Variant report

Variant	rs7974361
Chromosome Location	chr12:118789209-118789210
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118787708..118789568-chr12:118793165..118794977,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10160871	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10507287	1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11068877	0.83[MKK][hapmap];1.00[TSI][hapmap]
rs11068890	0.85[MKK][hapmap];1.00[TSI][hapmap]
rs11068895	0.85[MKK][hapmap];1.00[TSI][hapmap]
rs12311160	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12315982	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12319261	1.00[TSI][hapmap]
rs2062521	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56097381	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs56818943	0.85[ASN][1000 genomes]
rs57261188	0.83[ASN][1000 genomes]
rs61388284	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7134670	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137548	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7137739	0.81[MKK][hapmap];1.00[TSI][hapmap]
rs7296214	1.00[CHD][hapmap];0.85[GIH][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap]
rs7313514	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7967474	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1038224	chr12:118648415-118791388	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1040061	chr12:118648415-118800437	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1053417	chr12:118688969-118808530	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118720800-118793600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:118768800-118790400	Weak transcription	Primary T cells from cord blood	blood
3	chr12:118769200-118791000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:118774000-118792400	Weak transcription	Dnd41	blood
5	chr12:118775800-118792000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:118775800-118792600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr12:118776200-118792000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:118777000-118791000	Weak transcription	NHDF-Ad	bronchial
9	chr12:118780000-118790400	Weak transcription	Liver	Liver
10	chr12:118781000-118793600	Weak transcription	NHEK	skin
11	chr12:118783400-118789400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:118783400-118791000	Weak transcription	NHLF	lung
13	chr12:118783600-118792200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:118783600-118793000	Weak transcription	Osteobl	bone
15	chr12:118783600-118794400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr12:118784200-118793600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:118785000-118792600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:118785000-118794600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:118785400-118790600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr12:118785400-118790600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:118785400-118792200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:118785400-118793000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:118785400-118794600	Weak transcription	Aorta	Aorta
24	chr12:118785600-118791000	Weak transcription	Primary B cells from cord blood	blood
25	chr12:118786000-118790600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:118786000-118791000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr12:118786000-118791200	Weak transcription	Brain Substantia Nigra	brain
28	chr12:118786000-118791400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:118786000-118793400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr12:118786000-118794400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr12:118786200-118791000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr12:118786200-118791000	Weak transcription	Brain Angular Gyrus	brain
33	chr12:118786200-118791000	Weak transcription	K562	blood
34	chr12:118786200-118791200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:118786200-118791400	Weak transcription	A549	lung
36	chr12:118786200-118791600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr12:118786200-118793400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr12:118786200-118793400	Weak transcription	Stomach Mucosa	stomach
39	chr12:118786200-118793600	Weak transcription	Brain Hippocampus Middle	brain
40	chr12:118786200-118793600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr12:118786200-118793800	Weak transcription	Colon Smooth Muscle	Colon
42	chr12:118786600-118793800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr12:118786800-118791200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr12:118786800-118792000	Weak transcription	Fetal Intestine Small	intestine
45	chr12:118787400-118790400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr12:118788200-118790400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr12:118788200-118790800	Weak transcription	GM12878-XiMat	blood
48	chr12:118788400-118789400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:118788400-118791000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr12:118789000-118789400	Enhancers	Monocytes-CD14+_RO01746	blood

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