Variant report

Variant	rs208292
Chromosome Location	chr12:121596191-121596192
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121596042..121597903-chr12:121602917..121605232,2	MCF-7	breast:
2	chr12:121593680..121596400-chr12:121646406..121649307,2	K562	blood:
3	chr12:121590684..121593729-chr12:121595219..121598462,4	K562	blood:

Variant related genes	Relation type
ENSG00000135124	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10849843	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10849845	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10849846	0.92[ASN][1000 genomes]
rs10849848	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10849849	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849850	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10849851	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065428	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11065433	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11065435	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11065436	0.92[ASN][1000 genomes]
rs11065437	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11065440	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11065441	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11065443	1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap];0.96[MKK][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11065445	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11065453	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11065458	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2393800	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3861798	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3891262	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3900976	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4077055	0.92[ASN][1000 genomes]
rs4559762	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58717055	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6489794	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs684201	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7298521	0.86[CEU][hapmap];0.94[CHB][hapmap];0.84[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.93[MKK][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7302184	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7310821	1.00[CEU][hapmap];0.95[ASN][1000 genomes]
rs7313004	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7314706	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7954687	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv832531	chr12:121440495-121604232	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer 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	15 gene(s)	inside rSNPs	diseases
3	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer 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
6	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv899563	chr12:121543011-121600529	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats 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 target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121571800-121623200	Weak transcription	Colonic Mucosa	Colon
2	chr12:121572200-121599800	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:121572800-121601600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr12:121583000-121613200	Weak transcription	Primary B cells from cord blood	blood
5	chr12:121583000-121634600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr12:121583600-121599600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr12:121583800-121600400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr12:121583800-121602000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:121583800-121603200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:121583800-121623600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr12:121583800-121634400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr12:121584600-121626600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:121586200-121623600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:121592000-121599000	Strong transcription	Ovary	ovary
15	chr12:121592200-121596400	Strong transcription	Brain Substantia Nigra	brain
16	chr12:121592600-121596400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:121592600-121596400	Strong transcription	Liver	Liver
18	chr12:121593400-121597600	Strong transcription	Primary T cells from cord blood	blood
19	chr12:121594000-121612600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:121594200-121596400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:121594200-121596400	ZNF genes & repeats	Lung	lung
22	chr12:121594200-121627600	Weak transcription	Right Ventricle	heart
23	chr12:121594400-121600000	Weak transcription	Spleen	Spleen
24	chr12:121594600-121605400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:121595000-121597000	Enhancers	K562	blood
26	chr12:121595200-121596200	ZNF genes & repeats	Adipose Nuclei	Adipose
27	chr12:121595200-121596400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
28	chr12:121595200-121596400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
29	chr12:121595200-121606200	Strong transcription	Brain Angular Gyrus	brain
30	chr12:121595400-121596800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:121595400-121598600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:121595600-121596200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
33	chr12:121595600-121596200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
34	chr12:121595600-121596400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
35	chr12:121595600-121596400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
36	chr12:121595600-121596400	ZNF genes & repeats	Brain Hippocampus Middle	brain
37	chr12:121595600-121596400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:121595600-121596400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
39	chr12:121595800-121596200	ZNF genes & repeats	Brain Anterior Caudate	brain
40	chr12:121595800-121596200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
41	chr12:121595800-121596200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
42	chr12:121595800-121596200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
43	chr12:121595800-121596200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
44	chr12:121595800-121596400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
45	chr12:121595800-121596400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:121596000-121614800	Weak transcription	Gastric	stomach

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