Variant report

Variant	rs3132511
Chromosome Location	chr6:31170020-31170021
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:31169816-31173081	GM12878	blood:	n/a	n/a
2	POLR2A	chr6:31169751-31170978	HL-60	blood:	n/a	n/a
3	POLR2A	chr6:31169908-31170213	GM12891	blood:	n/a	n/a
4	POLR2A	chr6:31169920-31170786	K562	blood:	n/a	n/a
5	POLR2A	chr6:31169710-31170851	K562	blood:	n/a	n/a
6	POLR2A	chr6:31169890-31172142	GM12892	blood:	n/a	n/a
7	POLR2A	chr6:31169963-31170507	HepG2	liver:	n/a	n/a
8	POLR2A	chr6:31169968-31170751	GM12878	blood:	n/a	n/a
9	POLR2A	chr6:31169800-31170861	GM12892	blood:	n/a	n/a
10	POLR2A	chr6:31169929-31170735	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:31169826..31173428-chr6:31237952..31240385,5	MCF-7	breast:
2	chr6:31163991..31166829-chr6:31169984..31172636,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271821	TF binding region
ENSG00000272501	TF binding region
ENSG00000272501	Chromatin interaction
ENSG00000206344	Chromatin interaction
ENSG00000204525	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs3094606	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3094607	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3094608	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3094609	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3094610	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3095237	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3095238	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3095246	0.93[EUR][1000 genomes]
rs3095252	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3130428	0.93[EUR][1000 genomes]
rs3130460	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3130461	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3130462	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3130463	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3130466	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3130468	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3130512	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3130518	0.94[EUR][1000 genomes]
rs3130520	0.93[EUR][1000 genomes]
rs3130528	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3130532	0.96[EUR][1000 genomes]
rs3130941	0.93[EUR][1000 genomes]
rs3130950	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3130952	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3130954	0.81[EUR][1000 genomes]
rs3131017	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3132499	0.96[EUR][1000 genomes]
rs3132500	0.87[EUR][1000 genomes]
rs3132501	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3132503	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3132504	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3132507	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3132508	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3132509	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3132517	0.86[ASN][1000 genomes]
rs3134782	0.93[EUR][1000 genomes]
rs3134789	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4343960	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9264416	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv1029442	chr6:31006647-31449207	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
7	nsv427750	chr6:31028290-31234581	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic 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	47 gene(s)	inside rSNPs	diseases
8	nsv428140	chr6:31028290-31462106	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	89 gene(s)	inside rSNPs	diseases
9	esv2758042	chr6:31028290-31497106	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
10	esv2759414	chr6:31028290-31542308	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	151 gene(s)	inside rSNPs	diseases
11	nsv1019637	chr6:31104401-31354706	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
12	nsv1029569	chr6:31104401-31412740	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	68 gene(s)	inside rSNPs	diseases
13	nsv538174	chr6:31104401-31412740	Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	68 gene(s)	inside rSNPs	diseases
14	nsv1034391	chr6:31131121-31279595	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
15	nsv1025909	chr6:31131121-31354706	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
16	nsv538175	chr6:31131121-31354706	Active TSS Bivalent Enhancer Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
17	nsv1015890	chr6:31131121-31449207	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
18	nsv538176	chr6:31131121-31449207	Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
19	esv32635	chr6:31141504-31250618	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
20	nsv1024887	chr6:31162849-31354706	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
21	nsv538177	chr6:31162849-31354706	Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
22	nsv1015903	chr6:31162849-31412740	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
23	nsv538178	chr6:31162849-31412740	Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
24	nsv1031682	chr6:31162849-31449207	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
25	nsv538179	chr6:31162849-31449207	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3132511	CCHCR1	Cis_1M	lymphoblastoid	RTeQTL
rs3132511	HCG27	cis	multi-tissue	Pritchard

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31166200-31170200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:31166200-31170400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:31166200-31170600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:31166200-31170600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr6:31166200-31170600	Weak transcription	NH-A	brain
6	chr6:31166200-31170800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr6:31166200-31171000	Weak transcription	HSMMtube	muscle
8	chr6:31166200-31171000	Weak transcription	Osteobl	bone
9	chr6:31166200-31171200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:31166200-31171200	Weak transcription	Fetal Lung	lung
11	chr6:31166200-31171600	Weak transcription	Brain Substantia Nigra	brain
12	chr6:31166200-31171600	Weak transcription	Ovary	ovary
13	chr6:31166200-31171800	Weak transcription	Aorta	Aorta
14	chr6:31166200-31171800	Weak transcription	Fetal Brain Male	brain
15	chr6:31166200-31172400	Weak transcription	Gastric	stomach
16	chr6:31166400-31170800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:31166400-31170800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:31166600-31170200	Weak transcription	Small Intestine	intestine
19	chr6:31166600-31170800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:31166600-31171200	Weak transcription	HSMM	muscle
21	chr6:31166800-31170200	Weak transcription	Psoas Muscle	Psoas
22	chr6:31166800-31170600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:31166800-31170600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr6:31166800-31170600	Weak transcription	A549	lung
25	chr6:31166800-31171200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr6:31166800-31171200	Weak transcription	NHDF-Ad	bronchial
27	chr6:31166800-31171400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr6:31166800-31171400	Weak transcription	Left Ventricle	heart
29	chr6:31167000-31171400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr6:31167600-31170600	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
31	chr6:31167600-31170600	Weak transcription	Colon Smooth Muscle	Colon
32	chr6:31167800-31170200	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr6:31167800-31170200	Genic enhancers	Primary T cells fromperipheralblood	blood
34	chr6:31167800-31170600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr6:31168000-31170400	Weak transcription	Liver	Liver
36	chr6:31168000-31170600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
37	chr6:31168000-31170600	Weak transcription	Brain Hippocampus Middle	brain
38	chr6:31168000-31170800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr6:31168200-31170400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr6:31168200-31170600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr6:31168600-31170600	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr6:31168800-31170200	Genic enhancers	Thymus	Thymus
43	chr6:31169000-31170200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:31169000-31170200	Strong transcription	Adipose Nuclei	Adipose
45	chr6:31169000-31170200	Genic enhancers	Rectal Mucosa Donor 29	rectum
46	chr6:31169000-31170400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr6:31169000-31170800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr6:31169000-31171400	Enhancers	Pancreas	Pancrea
49	chr6:31169200-31170200	Weak transcription	Fetal Muscle Leg	muscle
50	chr6:31169200-31171200	Enhancers	Primary T killer memory cells from peripheral blood	blood

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