Variant report

Variant	rs3130954
Chromosome Location	chr6:31172937-31172938
allele	C/T
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	chr6:31172837-31173111	HCT-116	colon:	n/a	n/a
2	POLR2A	chr6:31169816-31173081	GM12878	blood:	n/a	n/a
3	POLR2A	chr6:31172451-31173072	K562	blood:	n/a	n/a
4	POLR2A	chr6:31172518-31173046	Raji	blood:	n/a	n/a
5	POLR2A	chr6:31172491-31173072	PBDE	blood:	n/a	n/a
6	POLR2A	chr6:31172466-31173114	K562	blood:	n/a	n/a
7	POLR2A	chr6:31172496-31173046	K562	blood:	n/a	n/a
8	POLR2A	chr6:31172633-31173040	HepG2	liver:	n/a	n/a
9	POLR2A	chr6:31172394-31172961	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:31172635..31175449-chr6:31176323..31178435,2	K562	blood:
2	chr6:31169826..31173428-chr6:31237952..31240385,5	MCF-7	breast:

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

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2517559	0.88[EUR][1000 genomes]
rs3094189	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3094606	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3095252	0.81[EUR][1000 genomes]
rs3130466	0.83[EUR][1000 genomes]
rs3130468	0.81[EUR][1000 genomes]
rs3130497	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3130512	0.83[EUR][1000 genomes]
rs3130518	0.80[EUR][1000 genomes]
rs3130528	0.81[EUR][1000 genomes]
rs3130532	0.81[EUR][1000 genomes]
rs3130933	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3130950	0.81[EUR][1000 genomes]
rs3130952	0.83[EUR][1000 genomes]
rs3132499	0.81[EUR][1000 genomes]
rs3132501	0.81[EUR][1000 genomes]
rs3132503	0.82[EUR][1000 genomes]
rs3132504	0.83[EUR][1000 genomes]
rs3132507	0.81[EUR][1000 genomes]
rs3132509	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3132511	0.81[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3130954	CCHCR1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31169600-31173000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr6:31169800-31173000	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr6:31170200-31173000	Enhancers	Small Intestine	intestine
4	chr6:31170600-31173200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr6:31170800-31183000	Weak transcription	Spleen	Spleen
6	chr6:31171800-31173000	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr6:31171800-31175800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:31172200-31173000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:31172200-31173000	Enhancers	Primary B cells from peripheral blood	blood
10	chr6:31172200-31173000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:31172200-31173000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:31172200-31173000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr6:31172200-31173000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:31172200-31173000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:31172200-31173000	Enhancers	Fetal Thymus	thymus
16	chr6:31172200-31173000	Enhancers	Pancreas	Pancrea
17	chr6:31172200-31173000	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr6:31172200-31173000	Flanking Active TSS	GM12878-XiMat	blood
19	chr6:31172200-31173000	Enhancers	HSMM	muscle
20	chr6:31172200-31173800	Enhancers	K562	blood
21	chr6:31172200-31174000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:31172200-31174400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr6:31172200-31174400	Enhancers	Fetal Intestine Large	intestine
24	chr6:31172200-31174400	Enhancers	Fetal Intestine Small	intestine
25	chr6:31172200-31175800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:31172200-31176200	Weak transcription	Right Atrium	heart
27	chr6:31172200-31176400	Weak transcription	Aorta	Aorta
28	chr6:31172200-31176400	Weak transcription	Fetal Lung	lung
29	chr6:31172200-31178200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr6:31172200-31183600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr6:31172400-31173000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr6:31172400-31173000	Enhancers	Primary T cells fromperipheralblood	blood
33	chr6:31172400-31173000	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr6:31172400-31173000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr6:31172400-31173000	Enhancers	Left Ventricle	heart
36	chr6:31172400-31173000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr6:31172400-31173000	Transcr. at gene 5' and 3'	Dnd41	blood
38	chr6:31172400-31173200	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr6:31172400-31173800	Enhancers	Primary T cells from cord blood	blood
40	chr6:31172600-31173000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr6:31172600-31173000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr6:31172600-31173000	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr6:31172600-31173000	Flanking Active TSS	Colonic Mucosa	Colon
44	chr6:31172600-31173000	Enhancers	HMEC	breast
45	chr6:31172600-31173200	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr6:31172600-31173800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr6:31172600-31175800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:31172600-31175800	Weak transcription	Adipose Nuclei	Adipose
49	chr6:31172800-31173000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr6:31172800-31173000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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