Variant report

Variant	rs7304096
Chromosome Location	chr12:1801318-1801319
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1769488..1776078-chr12:1798561..1806450,20	K562	blood:
2	chr12:1769387..1773191-chr12:1797591..1801415,7	K562	blood:
3	chr12:1799825..1801584-chr17:59476233..59479039,2	MCF-7	breast:
4	chr12:1800837..1805465-chr12:1806386..1808744,4	MCF-7	breast:
5	chr12:1801029..1803898-chr12:1875286..1877234,3	MCF-7	breast:
6	chr12:1768367..1774746-chr12:1797764..1801789,11	MCF-7	breast:
7	chr12:1801036..1802914-chr12:1804421..1806179,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271500	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000266043	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10082860	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs10082890	0.86[AFR][1000 genomes]
rs10161408	1.00[ASW][hapmap];0.86[AFR][1000 genomes]
rs10466906	0.84[AFR][1000 genomes]
rs11061916	1.00[ASW][hapmap];1.00[MKK][hapmap];0.87[YRI][hapmap]
rs11061960	0.92[AFR][1000 genomes]
rs11061966	0.92[AFR][1000 genomes]
rs11061969	0.81[AFR][1000 genomes]
rs11061981	0.84[AFR][1000 genomes]
rs12296498	0.86[AFR][1000 genomes]
rs12298275	1.00[ASW][hapmap];1.00[MKK][hapmap];0.86[AFR][1000 genomes]
rs12301209	0.86[AFR][1000 genomes]
rs12301668	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12303097	0.84[AFR][1000 genomes]
rs12303326	0.86[AFR][1000 genomes]
rs12307320	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs12310516	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs12312339	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12319781	0.92[AFR][1000 genomes]
rs7956914	0.84[AFR][1000 genomes]
rs7962861	1.00[YRI][hapmap]
rs7965288	0.86[AFR][1000 genomes]
rs7965379	0.86[AFR][1000 genomes]
rs9804994	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS 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	46 gene(s)	inside rSNPs	diseases
2	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv832304	chr12:1710249-1868642	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats 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	24 gene(s)	inside rSNPs	diseases
4	nsv832305	chr12:1769852-1936054	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv948480	chr12:1776217-2284333	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1799200-1801400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:1799200-1801400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:1799200-1801400	Active TSS	Stomach Smooth Muscle	stomach
4	chr12:1799200-1801600	Active TSS	H1 Cell Line	embryonic stem cell
5	chr12:1799200-1801600	Active TSS	H9 Cell Line	embryonic stem cell
6	chr12:1799200-1801600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:1799200-1801800	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr12:1799400-1801400	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr12:1799400-1801400	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr12:1799400-1801400	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr12:1799400-1801400	Active TSS	Fetal Brain Female	brain
12	chr12:1799400-1801400	Active TSS	Fetal Muscle Leg	muscle
13	chr12:1799400-1801400	Active TSS	K562	blood
14	chr12:1799400-1801800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr12:1799400-1801800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:1799400-1801800	Active TSS	Psoas Muscle	Psoas
17	chr12:1799400-1801800	Active TSS	NHDF-Ad	bronchial
18	chr12:1799400-1803000	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr12:1799600-1801400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:1799600-1801400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:1799600-1801400	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr12:1799600-1801400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:1799600-1801400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:1799600-1801400	Active TSS	Brain Cingulate Gyrus	brain
25	chr12:1799600-1801400	Active TSS	Thymus	Thymus
26	chr12:1799600-1801400	Active TSS	HSMM	muscle
27	chr12:1799600-1801400	Active TSS	HSMMtube	muscle
28	chr12:1799600-1801600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:1799600-1801600	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr12:1799600-1801600	Active TSS	Colonic Mucosa	Colon
31	chr12:1799600-1801600	Active TSS	Fetal Intestine Large	intestine
32	chr12:1799600-1801600	Active TSS	Left Ventricle	heart
33	chr12:1799600-1801600	Active TSS	Ovary	ovary
34	chr12:1799600-1801800	Active TSS	Brain Hippocampus Middle	brain
35	chr12:1799600-1801800	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr12:1799600-1801800	Active TSS	Right Ventricle	heart
37	chr12:1799600-1801800	Active TSS	Stomach Mucosa	stomach
38	chr12:1799600-1801800	Active TSS	NHLF	lung
39	chr12:1799600-1802400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:1799600-1802600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:1799600-1802600	Active TSS	GM12878-XiMat	blood
42	chr12:1799800-1801400	Active TSS	Aorta	Aorta
43	chr12:1799800-1801400	Active TSS	Liver	Liver
44	chr12:1799800-1801400	Active TSS	Small Intestine	intestine
45	chr12:1799800-1801400	Active TSS	Hela-S3	cervix
46	chr12:1799800-1801400	Active TSS	HMEC	breast
47	chr12:1799800-1801600	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr12:1799800-1801800	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr12:1799800-1801800	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr12:1799800-1802000	Active TSS	Brain Angular Gyrus	brain

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