Variant report

Variant	rs12108962
Chromosome Location	chr5:179257312-179257313
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179209321..179211104-chr5:179255738..179258099,2	K562	blood:
2	chr5:179255888..179258198-chr5:179285970..179288800,2	K562	blood:
3	chr5:179252799..179257821-chr5:179257862..179261026,6	MCF-7	breast:
4	chr19:2948482..2950039-chr5:179257194..179258714,2	K562	blood:

Variant related genes	Relation type
ENSG00000245317	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12109504	1.00[AMR][1000 genomes]
rs28365147	1.00[AMR][1000 genomes]
rs61748798	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
4	nsv469579	chr5:179184831-179360191	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats 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	182 gene(s)	inside rSNPs	diseases
5	nsv883274	chr5:179186397-179310330	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv883275	chr5:179193598-179267783	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
7	nsv883276	chr5:179193598-179310330	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
8	nsv883277	chr5:179193598-179350387	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
9	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer 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 miRNA target site	189 gene(s)	inside rSNPs	diseases
10	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
11	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	175 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179249600-179262600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:179249800-179261600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr5:179250000-179260800	Strong transcription	Dnd41	blood
4	chr5:179250000-179261000	Strong transcription	NHEK	skin
5	chr5:179250000-179261200	Strong transcription	Primary B cells from peripheral blood	blood
6	chr5:179250000-179261200	Strong transcription	Fetal Lung	lung
7	chr5:179250000-179261400	Strong transcription	Fetal Brain Female	brain
8	chr5:179250000-179261600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:179250000-179261600	Strong transcription	Fetal Stomach	stomach
10	chr5:179250000-179263000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr5:179250200-179261200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr5:179250200-179261400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr5:179250200-179272000	Strong transcription	Fetal Muscle Leg	muscle
14	chr5:179250200-179272800	Weak transcription	Fetal Brain Male	brain
15	chr5:179250400-179258200	Strong transcription	Primary B cells from cord blood	blood
16	chr5:179250400-179261400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:179250400-179261400	Strong transcription	Brain Germinal Matrix	brain
18	chr5:179250800-179261200	Strong transcription	Primary T cells from cord blood	blood
19	chr5:179250800-179261200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr5:179251000-179261000	Strong transcription	HMEC	breast
21	chr5:179251000-179261200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr5:179251200-179261000	Strong transcription	K562	blood
23	chr5:179251200-179261400	Strong transcription	Aorta	Aorta
24	chr5:179251200-179261600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:179251200-179263200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr5:179251400-179261400	Strong transcription	Ovary	ovary
27	chr5:179251600-179261000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:179251600-179261200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
29	chr5:179251600-179261200	Strong transcription	GM12878-XiMat	blood
30	chr5:179251600-179261200	Strong transcription	HUVEC	blood vessel
31	chr5:179251600-179261600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:179251600-179263200	Weak transcription	Right Atrium	heart
33	chr5:179251800-179261200	Genic enhancers	Liver	Liver
34	chr5:179251800-179267800	Strong transcription	Fetal Muscle Trunk	muscle
35	chr5:179252200-179259400	Strong transcription	Spleen	Spleen
36	chr5:179252200-179261200	Strong transcription	Pancreatic Islets	Pancreatic Islet
37	chr5:179252200-179261400	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr5:179252200-179261400	Strong transcription	NHLF	lung
39	chr5:179252400-179261200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr5:179252400-179263600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr5:179253000-179258200	Genic enhancers	HepG2	liver
42	chr5:179253000-179261200	Genic enhancers	A549	lung
43	chr5:179253000-179261200	Strong transcription	HSMMtube	muscle
44	chr5:179253400-179257800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr5:179254000-179261000	Strong transcription	Stomach Mucosa	stomach
46	chr5:179254000-179261400	Strong transcription	Rectal Smooth Muscle	rectum
47	chr5:179254200-179261200	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr5:179254600-179257400	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr5:179254600-179257600	Genic enhancers	Brain Hippocampus Middle	brain
50	chr5:179254600-179261200	Strong transcription	Osteobl	bone

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