Variant report

Variant	rs976874
Chromosome Location	chr12:31679659-31679660
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:31612968..31613587-chr12:31678930..31679823,2	MCF-7	breast:
2	chr12:31612637..31613514-chr12:31678906..31679710,3	MCF-7	breast:
3	chr12:31612782..31613587-chr12:31678930..31679828,6	MCF-7	breast:

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1012154	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11051456	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1150942	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150943	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150945	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150950	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1150953	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1150954	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150955	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1150963	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259233	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259235	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1259241	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259352	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1259353	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259354	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259356	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1259359	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1259386	0.91[ASN][1000 genomes]
rs1259389	0.85[ASN][1000 genomes]
rs1259395	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1259405	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1259409	0.85[EUR][1000 genomes]
rs1259422	0.85[AFR][1000 genomes]
rs1259426	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1259430	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1259432	0.86[AMR][1000 genomes]
rs1259435	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259437	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1259438	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259441	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1262390	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1271128	0.86[AMR][1000 genomes]
rs1271663	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1272773	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1542536	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1677154	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1677186	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1677187	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1677189	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1677217	0.81[EUR][1000 genomes]
rs1716194	0.82[ASN][1000 genomes]
rs1716216	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2061761	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2568885	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2568887	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2568888	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2568894	0.84[AMR][1000 genomes]
rs2568902	0.90[AMR][1000 genomes]
rs2604052	0.91[ASN][1000 genomes]
rs2617178	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2617191	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2617200	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2682671	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2682674	0.86[ASN][1000 genomes]
rs2682677	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2682679	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2682680	0.89[ASN][1000 genomes]
rs2682686	0.84[EUR][1000 genomes]
rs2682695	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4312145	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs708212	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs708215	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs708217	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs792871	0.84[AMR][1000 genomes]
rs792875	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs793148	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs793149	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs793150	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs793158	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs793161	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs793171	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs793173	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs793174	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs793175	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs793176	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs793177	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs793186	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs793191	0.84[AMR][1000 genomes]
rs899159	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	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS 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	71 gene(s)	inside rSNPs	diseases
3	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv898965	chr12:31631819-31771689	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv832365	chr12:31642811-31808532	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv1842653	chr12:31670378-31744033	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr12:31667800-31687600	Weak transcription	Pancreas	Pancrea
2	chr12:31671000-31680200	Weak transcription	Right Atrium	heart
3	chr12:31672200-31680000	Weak transcription	Right Ventricle	heart
4	chr12:31672800-31681000	Weak transcription	Brain Anterior Caudate	brain
5	chr12:31673000-31684600	Weak transcription	Aorta	Aorta
6	chr12:31673000-31685200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:31673400-31681200	Weak transcription	Brain Hippocampus Middle	brain
8	chr12:31673400-31681600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:31673400-31688400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:31675600-31689000	Weak transcription	Small Intestine	intestine
11	chr12:31676000-31681000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:31676000-31685800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:31676400-31684600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:31676800-31681000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:31677000-31683600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr12:31677000-31683600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:31677000-31684000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:31677200-31680200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:31677200-31681000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:31677200-31683600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:31677600-31680200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:31677600-31680400	Enhancers	Brain Angular Gyrus	brain
23	chr12:31677600-31681600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:31677800-31679800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:31677800-31680200	Enhancers	Fetal Kidney	kidney
26	chr12:31677800-31680200	Enhancers	Hela-S3	cervix
27	chr12:31677800-31683600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr12:31678000-31686400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:31678200-31681000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr12:31678200-31686400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:31678400-31680400	Enhancers	Adipose Nuclei	Adipose
32	chr12:31678400-31680400	Enhancers	HepG2	liver
33	chr12:31678600-31680400	Enhancers	Ovary	ovary
34	chr12:31678600-31681400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr12:31678600-31683600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:31678800-31679800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:31678800-31684600	Weak transcription	HSMM	muscle
38	chr12:31679000-31680000	Enhancers	Liver	Liver
39	chr12:31679000-31680200	Weak transcription	Fetal Muscle Leg	muscle
40	chr12:31679000-31680200	Weak transcription	Left Ventricle	heart
41	chr12:31679000-31688800	Weak transcription	Psoas Muscle	Psoas
42	chr12:31679000-31691400	Weak transcription	Fetal Intestine Large	intestine
43	chr12:31679200-31679800	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr12:31679200-31680200	Flanking Active TSS	A549	lung
45	chr12:31679200-31680400	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr12:31679400-31679800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr12:31679400-31680400	Enhancers	Fetal Heart	heart
48	chr12:31679400-31687600	Weak transcription	Primary B cells from cord blood	blood
49	chr12:31679600-31679800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:31679600-31679800	Enhancers	Brain Substantia Nigra	brain

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