Variant report

Variant	rs493945
Chromosome Location	chr1:228465346-228465347
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr1:228465227-228465415	K562	blood:	n/a	n/a
2	POLR2A	chr1:228465324-228465354	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228353494..228355911-chr1:228462112..228465805,3	K562	blood:
2	chr1:228463910..228466494-chr1:228485377..228488310,3	K562	blood:
3	chr1:228461911..228467066-chr1:228644143..228647181,7	K562	blood:
4	chr1:228326053..228331395-chr1:228462710..228467617,6	K562	blood:
5	chr1:228461911..228467066-chr1:228644125..228647181,7	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf145-4	chr1:228464906-228465347	predAs_chen_BX104687_1

No data

Variant related genes	Relation type
OBSCN	TF binding region
ENSG00000269890	TF binding region
ENSG00000269934	TF binding region
ENSG00000143774	Chromatin interaction
ENSG00000196890	Chromatin interaction
ENSG00000181218	Chromatin interaction
ENSG00000154358	Chromatin interaction
ENSG00000181873	Chromatin interaction

Extended variants
information (count: 128 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10158357	0.87[CEU][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs1059778	0.96[CEU][hapmap];0.82[TSI][hapmap]
rs10753445	0.96[CEU][hapmap];0.82[TSI][hapmap]
rs10916265	0.87[CEU][hapmap]
rs10916268	0.91[CEU][hapmap];0.85[TSI][hapmap]
rs11580411	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11584385	0.96[CEU][hapmap];0.90[TSI][hapmap];0.81[EUR][1000 genomes]
rs12118872	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12564763	0.87[CEU][hapmap];0.85[TSI][hapmap]
rs12745416	0.96[CEU][hapmap]
rs1331303	0.82[EUR][1000 genomes]
rs1411910	0.83[ASW][hapmap];0.96[CEU][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap];0.86[YRI][hapmap];0.81[EUR][1000 genomes]
rs1620111	0.96[CEU][hapmap];0.90[TSI][hapmap]
rs1629294	0.96[CEU][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs1757129	0.81[EUR][1000 genomes]
rs1757132	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs1757133	0.96[CEU][hapmap];0.80[EUR][1000 genomes]
rs1757138	0.81[EUR][1000 genomes]
rs1757139	0.96[CEU][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs1757140	0.80[EUR][1000 genomes]
rs1757141	0.80[EUR][1000 genomes]
rs1757144	0.81[EUR][1000 genomes]
rs1757145	0.80[EUR][1000 genomes]
rs1757147	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs1757148	0.82[EUR][1000 genomes]
rs1757149	0.96[CEU][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs1757150	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs1757151	0.81[EUR][1000 genomes]
rs1757152	0.96[CEU][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs1757155	0.82[EUR][1000 genomes]
rs1757156	0.96[CEU][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs1757158	0.80[EUR][1000 genomes]
rs17640616	0.85[TSI][hapmap]
rs1771459	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs1771460	0.96[CEU][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs1771461	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs1771462	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs1771467	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs1771468	0.80[EUR][1000 genomes]
rs1771469	0.82[EUR][1000 genomes]
rs1771470	0.80[EUR][1000 genomes]
rs1771471	0.81[EUR][1000 genomes]
rs1771472	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs1771474	0.96[CEU][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs1771476	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs1771477	0.82[EUR][1000 genomes]
rs1771478	0.82[EUR][1000 genomes]
rs1771479	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs1771482	0.96[CEU][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes]
rs1771483	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs1771484	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs1771485	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs1771487	0.96[CEU][hapmap];0.90[TSI][hapmap]
rs2066237	0.96[CEU][hapmap];0.82[TSI][hapmap]
rs2313601	0.96[CEU][hapmap];0.90[TSI][hapmap]
rs2313602	0.96[CEU][hapmap];0.85[TSI][hapmap]
rs2776845	0.81[EUR][1000 genomes]
rs2776855	0.96[CEU][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap]
rs2776856	0.96[CEU][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs2792984	0.81[EUR][1000 genomes]
rs2872538	0.96[CEU][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap];0.81[EUR][1000 genomes]
rs3795777	0.80[EUR][1000 genomes]
rs3795782	0.96[CEU][hapmap];0.88[GIH][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes]
rs4653543	0.81[EUR][1000 genomes]
rs4653545	0.85[EUR][1000 genomes]
rs4653915	0.83[CEU][hapmap]
rs4653931	0.80[EUR][1000 genomes]
rs4653933	0.82[EUR][1000 genomes]
rs4653934	0.89[EUR][1000 genomes]
rs474735	0.86[AFR][1000 genomes]
rs489926	0.84[EUR][1000 genomes]
rs491293	0.84[EUR][1000 genomes]
rs504474	0.86[AFR][1000 genomes]
rs512406	0.85[EUR][1000 genomes]
rs545313	0.85[EUR][1000 genomes]
rs546967	0.85[EUR][1000 genomes]
rs56112646	0.82[EUR][1000 genomes]
rs56168609	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs566640	0.85[EUR][1000 genomes]
rs61827540	0.80[EUR][1000 genomes]
rs7512209	0.96[CEU][hapmap];0.85[TSI][hapmap]
rs7525075	0.83[EUR][1000 genomes]
rs7532924	0.96[CEU][hapmap]
rs7537636	0.96[CEU][hapmap];0.85[TSI][hapmap]
rs936884	0.86[AFR][1000 genomes]
rs947087	0.83[ASW][hapmap];0.96[CEU][hapmap];0.90[TSI][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
7	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
8	nsv1012078	chr1:228340876-228521843	Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
9	nsv535320	chr1:228340876-228521843	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
10	nsv873263	chr1:228391808-228494790	Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	nsv873264	chr1:228423647-228543800	Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv873265	chr1:228434395-228525008	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv873266	chr1:228434395-228537942	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv873267	chr1:228434395-228585837	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
15	nsv873268	chr1:228442663-228537942	Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv873269	chr1:228442663-228543800	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv873270	chr1:228442663-228699477	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
18	nsv1009891	chr1:228450763-228742676	Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
19	nsv873271	chr1:228450868-228470995	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
20	nsv873272	chr1:228450868-228538968	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
21	nsv873273	chr1:228450868-228556788	Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
22	nsv873274	chr1:228450868-228585837	Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
23	esv1798020	chr1:228456147-228556788	Strong transcription Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
24	esv1818776	chr1:228456147-228556788	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
25	nsv873275	chr1:228456147-228585837	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
26	nsv517545	chr1:228456147-228685999	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
27	nsv873276	chr1:228456943-228585837	Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
28	nsv1013500	chr1:228459134-228849601	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
29	nsv827064	chr1:228459934-228469437	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
30	nsv549292	chr1:228464248-228474817	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
31	esv1808871	chr1:228464248-228529606	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
32	nsv549293	chr1:228464248-228529606	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
33	esv1850422	chr1:228464248-228556788	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
34	nsv468260	chr1:228464248-228556788	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
35	nsv549294	chr1:228464248-228556788	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
36	nsv873277	chr1:228464248-228556788	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
37	nsv873278	chr1:228464248-228585837	Strong transcription Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
38	nsv468271	chr1:228464248-228601638	Bivalent Enhancer Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
39	nsv468283	chr1:228464248-228601638	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
40	nsv468294	chr1:228464248-228601638	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
41	nsv549295	chr1:228464248-228601638	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
42	nsv470780	chr1:228464248-228606965	Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs493945	MRPL55	cis	parietal	SCAN
rs493945	OBSCN	cis	Esophagus Mucosa	GTEx
rs493945	WDR26	cis	cerebellum	SCAN

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228455400-228484800	Weak transcription	A549	lung
2	chr1:228456400-228485800	Weak transcription	Hela-S3	cervix
3	chr1:228457200-228472000	Weak transcription	Fetal Heart	heart
4	chr1:228459800-228469600	Weak transcription	HSMMtube	muscle
5	chr1:228463800-228481400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:228464000-228472200	Weak transcription	Small Intestine	intestine
7	chr1:228464200-228466400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:228464200-228470400	Weak transcription	HMEC	breast
9	chr1:228464200-228470600	Weak transcription	Aorta	Aorta
10	chr1:228464200-228473800	Weak transcription	Psoas Muscle	Psoas
11	chr1:228464200-228473800	Weak transcription	NHEK	skin
12	chr1:228464200-228478000	Strong transcription	Dnd41	blood
13	chr1:228464200-228491600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:228464400-228465400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:228464400-228465800	Enhancers	Spleen	Spleen
16	chr1:228464400-228466200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:228464400-228466200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:228464400-228466200	Weak transcription	Fetal Intestine Large	intestine
19	chr1:228464400-228466200	Weak transcription	Fetal Lung	lung
20	chr1:228464400-228466200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr1:228464400-228466400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:228464400-228466400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:228464400-228467000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr1:228464400-228467600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:228464400-228468000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:228464400-228468400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr1:228464400-228469200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:228464400-228470600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:228464400-228470600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr1:228464400-228471800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:228464400-228472000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
32	chr1:228464400-228473000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr1:228464400-228478400	Strong transcription	Thymus	Thymus
34	chr1:228464400-228479600	Weak transcription	Right Atrium	heart
35	chr1:228464400-228481400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:228464400-228482000	Weak transcription	Fetal Kidney	kidney
37	chr1:228464400-228489200	Strong transcription	Left Ventricle	heart
38	chr1:228464600-228465400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:228464600-228465400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:228464600-228465400	Genic enhancers	Fetal Muscle Trunk	muscle
41	chr1:228464600-228465800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr1:228464600-228466200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:228464600-228466600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:228464600-228466600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:228464600-228467200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr1:228464600-228467400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
47	chr1:228464600-228467800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr1:228464600-228467800	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr1:228464600-228468400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:228464600-228468800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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