Variant report

Variant	rs29655
Chromosome Location	chr5:180267436-180267437
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:180265528..180270549-chr5:180272492..180276468,5	K562	blood:
2	chr5:180256981..180261786-chr5:180262145..180269081,9	K562	blood:
3	chr5:180258091..180260121-chr5:180265803..180269269,3	MCF-7	breast:
4	chr5:180266275..180269354-chr5:180269662..180271992,3	MCF-7	breast:
5	chr5:180235508..180238459-chr5:180267237..180269270,2	K562	blood:
6	chr5:180260907..180268562-chr5:180284401..180289844,9	K562	blood:
7	chr5:180262394..180264164-chr5:180266350..180269420,3	K562	blood:
8	chr5:180262664..180264949-chr5:180267112..180269108,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000196670	Chromatin interaction
ENSG00000131446	Chromatin interaction
ENSG00000245060	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10052755	0.86[ASN][1000 genomes]
rs168726	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1965839	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2127376	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2127378	0.87[EUR][1000 genomes]
rs249307	1.00[CHB][hapmap];0.83[GIH][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes]
rs249308	0.86[EUR][1000 genomes]
rs249309	0.91[EUR][1000 genomes]
rs249310	0.91[EUR][1000 genomes]
rs249313	0.91[EUR][1000 genomes]
rs249314	0.90[EUR][1000 genomes]
rs249315	0.91[EUR][1000 genomes]
rs249316	0.91[EUR][1000 genomes]
rs249317	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2591463	0.89[EUR][1000 genomes]
rs2591464	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2619753	0.83[EUR][1000 genomes]
rs2619754	1.00[CHB][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs2619755	0.87[EUR][1000 genomes]
rs2619756	1.00[CHB][hapmap];0.88[GIH][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes]
rs2619758	1.00[CHB][hapmap];0.88[GIH][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes]
rs2619759	1.00[CHB][hapmap];0.88[GIH][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs2619761	0.87[EUR][1000 genomes]
rs2619762	0.87[EUR][1000 genomes]
rs2619763	1.00[CHB][hapmap];0.88[GIH][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes]
rs2619765	0.86[EUR][1000 genomes]
rs2619766	0.89[EUR][1000 genomes]
rs29653	0.95[EUR][1000 genomes]
rs29654	1.00[CHB][hapmap];0.83[GIH][hapmap];0.94[TSI][hapmap];0.86[EUR][1000 genomes]
rs4700761	0.86[ASN][1000 genomes]
rs6601146	0.86[ASN][1000 genomes]
rs6601147	0.86[ASN][1000 genomes]
rs6601148	0.86[ASN][1000 genomes]
rs705441	0.89[EUR][1000 genomes]
rs73353029	0.86[ASN][1000 genomes]
rs7709390	1.00[ASN][1000 genomes]
rs7724400	0.86[ASN][1000 genomes]
rs801802	0.91[EUR][1000 genomes]
rs810491	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs899547	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
2	nsv1026417	chr5:179721376-180291360	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1031836	chr5:179742033-180676122	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv537984	chr5:179742033-180676122	Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
5	nsv949199	chr5:179743553-180696889	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
6	nsv533204	chr5:180008319-180273638	Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
7	nsv1015152	chr5:180014800-180567614	Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	89 gene(s)	inside rSNPs	diseases
8	nsv537987	chr5:180014800-180567614	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	89 gene(s)	inside rSNPs	diseases
9	nsv1034993	chr5:180059323-180686563	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	161 gene(s)	inside rSNPs	diseases
10	nsv534263	chr5:180063182-180696806	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	166 gene(s)	inside rSNPs	diseases
11	nsv1025669	chr5:180069992-180686563	Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	161 gene(s)	inside rSNPs	diseases
12	esv2759399	chr5:180079970-180281476	Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
13	esv2758033	chr5:180087198-180281476	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
14	nsv537993	chr5:180119301-180686563	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	158 gene(s)	inside rSNPs	diseases
15	nsv1026978	chr5:180137823-180686563	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	157 gene(s)	inside rSNPs	diseases
16	nsv949443	chr5:180144688-180503368	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
17	nsv1032677	chr5:180151997-180686563	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	157 gene(s)	inside rSNPs	diseases
18	nsv469692	chr5:180185452-180360834	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
19	nsv482702	chr5:180185452-180360834	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
20	nsv1022107	chr5:180203044-180686563	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	155 gene(s)	inside rSNPs	diseases
21	nsv1033854	chr5:180208441-180686563	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	155 gene(s)	inside rSNPs	diseases
22	nsv537995	chr5:180208441-180686563	Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	155 gene(s)	inside rSNPs	diseases
23	nsv1033472	chr5:180208501-180575682	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	79 gene(s)	inside rSNPs	diseases
24	nsv537996	chr5:180208501-180575682	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	79 gene(s)	inside rSNPs	diseases
25	nsv469788	chr5:180210102-180403232	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
26	nsv482337	chr5:180210102-180403232	Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
27	nsv1018788	chr5:180216969-180686563	Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	155 gene(s)	inside rSNPs	diseases
28	nsv1024379	chr5:180217029-180686563	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	155 gene(s)	inside rSNPs	diseases
29	nsv537997	chr5:180217029-180686563	Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	155 gene(s)	inside rSNPs	diseases
30	nsv1032399	chr5:180229033-180429831	Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
31	nsv537998	chr5:180229033-180429831	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
32	nsv1027391	chr5:180229033-180447744	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
33	nsv1018245	chr5:180229033-180686563	Active TSS Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	155 gene(s)	inside rSNPs	diseases
34	nsv537999	chr5:180229033-180686563	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	155 gene(s)	inside rSNPs	diseases
35	nsv428133	chr5:180232451-180786488	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	157 gene(s)	inside rSNPs	diseases
36	nsv1032922	chr5:180234136-180429831	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
37	nsv1027735	chr5:180234136-180447744	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
38	nsv538000	chr5:180234136-180447744	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
39	nsv1028360	chr5:180234136-180686563	Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	149 gene(s)	inside rSNPs	diseases
40	nsv1035134	chr5:180240674-180429831	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
41	nsv538001	chr5:180240674-180429831	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
42	nsv1033040	chr5:180240674-180686563	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	137 gene(s)	inside rSNPs	diseases
43	nsv538002	chr5:180240674-180686563	Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	137 gene(s)	inside rSNPs	diseases
44	nsv1029448	chr5:180242884-180429831	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
45	nsv538003	chr5:180242884-180429831	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
46	nsv1015860	chr5:180242884-180447744	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
47	nsv1028885	chr5:180242884-180686563	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	137 gene(s)	inside rSNPs	diseases
48	nsv538004	chr5:180242884-180686563	Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	137 gene(s)	inside rSNPs	diseases
49	nsv1020386	chr5:180251695-180447744	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
50	nsv538005	chr5:180251695-180447744	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs29655	HNRNPH1	cis	parietal	SCAN

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:180259000-180272600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:180259400-180271400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:180259400-180273600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:180259600-180272400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:180259600-180272600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:180259800-180276800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:180260000-180268800	Weak transcription	Brain Germinal Matrix	brain
8	chr5:180260000-180271400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:180260000-180273200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:180260000-180273800	Weak transcription	Fetal Kidney	kidney
11	chr5:180260000-180274400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr5:180260000-180274400	Weak transcription	NHDF-Ad	bronchial
13	chr5:180260000-180276200	Weak transcription	Stomach Mucosa	stomach
14	chr5:180262400-180272800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:180262400-180276200	Weak transcription	Psoas Muscle	Psoas
16	chr5:180262600-180268800	Weak transcription	Fetal Brain Female	brain
17	chr5:180262600-180276200	Weak transcription	HSMMtube	muscle
18	chr5:180263200-180273200	Weak transcription	Fetal Intestine Large	intestine
19	chr5:180263200-180274600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:180263800-180272400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:180263800-180272600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:180264000-180268600	Weak transcription	Fetal Muscle Leg	muscle
23	chr5:180264000-180272800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr5:180264000-180275600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr5:180264000-180275800	Weak transcription	Colonic Mucosa	Colon
26	chr5:180264200-180273000	Weak transcription	Lung	lung
27	chr5:180264400-180272600	Weak transcription	Pancreas	Pancrea
28	chr5:180264400-180275600	Weak transcription	NHLF	lung
29	chr5:180264400-180275800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:180264600-180268000	Weak transcription	Fetal Lung	lung
31	chr5:180264600-180271400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr5:180264600-180271400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:180264600-180271400	Weak transcription	Brain Substantia Nigra	brain
34	chr5:180264600-180271400	Weak transcription	Thymus	Thymus
35	chr5:180264600-180272400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr5:180264600-180273000	Weak transcription	HSMM	muscle
37	chr5:180264600-180273200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr5:180264600-180273200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr5:180264600-180273400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr5:180264600-180274000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:180264600-180274400	Weak transcription	Dnd41	blood
42	chr5:180264600-180274600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:180264600-180275600	Weak transcription	Colon Smooth Muscle	Colon
44	chr5:180264600-180275600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr5:180264600-180275800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr5:180264600-180275800	Weak transcription	Spleen	Spleen
47	chr5:180264600-180276200	Weak transcription	Fetal Brain Male	brain
48	chr5:180264800-180268800	Weak transcription	Brain Hippocampus Middle	brain
49	chr5:180264800-180272600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr5:180264800-180273200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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