Variant report

Variant	rs17012845
Chromosome Location	chr4:128914544-128914545
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:128906555..128909101-chr4:128913842..128916277,2	MCF-7	breast:
2	chr4:128902427..128905615-chr4:128912442..128914780,3	K562	blood:
3	chr4:128885680..128888469-chr4:128913436..128915929,2	K562	blood:
4	chr4:128902427..128904271-chr4:128912442..128914702,2	K562	blood:

Variant related genes	Relation type
ENSG00000164074	Chromatin interaction
ENSG00000164073	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11931314	1.00[ASW][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs11931319	0.97[AFR][1000 genomes]
rs11931833	0.80[YRI][hapmap];1.00[AMR][1000 genomes]
rs11932251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11933103	1.00[AMR][1000 genomes]
rs11934357	0.91[LWK][hapmap];1.00[AMR][1000 genomes]
rs11935267	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.80[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11938181	1.00[ASW][hapmap];0.84[LWK][hapmap];1.00[AMR][1000 genomes]
rs11940703	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs11941245	0.91[YRI][hapmap];0.83[AFR][1000 genomes]
rs11941287	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11941857	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs11942042	1.00[ASW][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.80[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11943141	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11943527	1.00[AMR][1000 genomes]
rs11947194	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11947313	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17012665	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs17012675	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs17012679	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs17012810	0.83[YRI][hapmap]
rs17012867	1.00[MEX][hapmap];0.83[YRI][hapmap]
rs17012926	1.00[ASW][hapmap];0.81[LWK][hapmap]
rs17012942	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs17012954	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs6534652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv817326	chr4:128292216-128915201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv879923	chr4:128554404-129068179	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv1801492	chr4:128566686-128934513	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv1792644	chr4:128566686-129133826	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	esv1795770	chr4:128566686-129145581	Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	esv3431515	chr4:128657260-128932577	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv532740	chr4:128710011-129035335	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats 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 miRNA target site	31 gene(s)	inside rSNPs	diseases
9	esv3416036	chr4:128782694-129133956	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS 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 miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv1033701	chr4:128803159-129095018	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv1019193	chr4:128810527-128949320	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	esv1841203	chr4:128817558-129043809	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
13	nsv1029890	chr4:128828468-129041302	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
14	esv1817670	chr4:128850073-129012181	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS 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	28 gene(s)	inside rSNPs	diseases
15	esv1821180	chr4:128850073-129012181	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
16	nsv1018952	chr4:128850790-129082821	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers 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 target site	29 gene(s)	inside rSNPs	diseases
17	nsv595388	chr4:128853913-129084831	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
18	nsv1019555	chr4:128901614-129088903	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:128887600-128920800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr4:128887600-128933600	Weak transcription	Brain Hippocampus Middle	brain
3	chr4:128887600-128933800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:128887600-128941400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:128887600-128981200	Weak transcription	Psoas Muscle	Psoas
6	chr4:128887800-128917200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr4:128887800-128921000	Weak transcription	Fetal Lung	lung
8	chr4:128887800-128930400	Weak transcription	Osteobl	bone
9	chr4:128887800-128933800	Weak transcription	Gastric	stomach
10	chr4:128887800-128940200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr4:128887800-128941200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr4:128887800-128951200	Weak transcription	HUVEC	blood vessel
13	chr4:128888400-128921400	Weak transcription	Brain Anterior Caudate	brain
14	chr4:128888400-128941200	Weak transcription	NHDF-Ad	bronchial
15	chr4:128888400-128956000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr4:128888600-128933200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr4:128890200-128933600	Weak transcription	Aorta	Aorta
18	chr4:128890200-128939200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr4:128890200-128950600	Weak transcription	HepG2	liver
20	chr4:128890400-128958600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr4:128893600-128948200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr4:128893600-128954200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr4:128893600-128955800	Weak transcription	Right Ventricle	heart
24	chr4:128894200-128916200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr4:128894600-128919400	Weak transcription	Fetal Kidney	kidney
26	chr4:128894800-128917000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:128895800-128923400	Weak transcription	Lung	lung
28	chr4:128895800-128926400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:128895800-128930200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:128895800-128938400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr4:128895800-128944600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr4:128895800-128953600	Weak transcription	Pancreas	Pancrea
33	chr4:128896800-128930000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr4:128896800-128951800	Weak transcription	HSMM	muscle
35	chr4:128900200-128943800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr4:128901400-128941400	Weak transcription	Small Intestine	intestine
37	chr4:128902000-128922400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr4:128903400-128916400	Weak transcription	A549	lung
39	chr4:128904200-128917000	Weak transcription	HMEC	breast
40	chr4:128904400-128916400	Weak transcription	NHEK	skin
41	chr4:128905000-128940400	Weak transcription	Brain Germinal Matrix	brain
42	chr4:128905400-128918800	Weak transcription	Brain Substantia Nigra	brain
43	chr4:128906400-128926800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:128906600-128940200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr4:128907200-128926800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr4:128907400-128916000	Weak transcription	Fetal Intestine Large	intestine
47	chr4:128907400-128917000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:128907400-128921400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:128907800-128917000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr4:128907800-128917000	Weak transcription	Placenta	Placenta

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