Variant report

Variant	rs3130465
Chromosome Location	chr6:31166352-31166353
allele	A/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	chr6:31164045-31167117	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:31165208-31166361	HL-60	blood:	n/a	n/a
3	JUN	chr6:31165182-31166382	K562	blood:	n/a	chr6:31166082-31166093 chr6:31166079-31166091 chr6:31166081-31166090
4	PML	chr6:31164576-31166354	GM12878	blood:	n/a	n/a
5	POLR2A	chr6:31166232-31166353	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr6:31166243-31166352	GM10266	blood:	n/a	n/a
7	CTCF	chr6:31166220-31166370	HCT-116	colon:	n/a	n/a
8	POLR2A	chr6:31165204-31166744	HL-60	blood:	n/a	n/a
9	POLR2A	chr6:31164575-31166414	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:31163696..31166940-chr6:31333321..31336541,7	MCF-7	breast:
2	chr6:31164763..31166450-chr6:31463766..31465501,2	K562	blood:
3	chr6:31148110..31150151-chr6:31165829..31167375,2	K562	blood:

Variant related genes	Relation type
HCG27	TF binding region
ENSG00000272501	TF binding region
ENSG00000204531	Chromatin interaction
ENSG00000228432	Chromatin interaction
ENSG00000201680	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs3094612	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3095240	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3130458	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3130467	0.89[EUR][1000 genomes]
rs3130505	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3130507	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3130511	0.89[EUR][1000 genomes]
rs3130517	0.87[EUR][1000 genomes]
rs3130953	0.89[EUR][1000 genomes]
rs3131016	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3132502	0.88[EUR][1000 genomes]
rs3134788	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3130465	HLA-C	Cis_1M	lymphoblastoid	RTeQTL
rs3130465	HCG27	Cis_1M	lymphoblastoid	RTeQTL
rs3130465	HLA-B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31164200-31167200	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr6:31164400-31166600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:31164400-31166800	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr6:31164400-31166800	Active TSS	Colon Smooth Muscle	Colon
5	chr6:31164400-31166800	Active TSS	A549	lung
6	chr6:31164400-31168400	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr6:31164600-31166400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr6:31164600-31166400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:31164600-31166400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:31164600-31166400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:31164600-31166400	Active TSS	Brain Angular Gyrus	brain
12	chr6:31164600-31166400	Active TSS	Brain Hippocampus Middle	brain
13	chr6:31164600-31166400	Active TSS	Right Ventricle	heart
14	chr6:31164600-31166400	Active TSS	HMEC	breast
15	chr6:31164600-31166600	Active TSS	Fetal Brain Female	brain
16	chr6:31164600-31166600	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr6:31164600-31166600	Active TSS	Left Ventricle	heart
18	chr6:31164600-31166600	Active TSS	Psoas Muscle	Psoas
19	chr6:31164600-31166600	Active TSS	HSMM	muscle
20	chr6:31164600-31166800	Active TSS	Right Atrium	heart
21	chr6:31164600-31166800	Active TSS	NHDF-Ad	bronchial
22	chr6:31164600-31166800	Active TSS	NHLF	lung
23	chr6:31164800-31166400	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr6:31164800-31166400	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr6:31164800-31166400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:31164800-31166400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:31164800-31166400	Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr6:31164800-31166400	Active TSS	Monocytes-CD14+_RO01746	blood
29	chr6:31164800-31166600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:31164800-31166600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr6:31164800-31166600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr6:31164800-31166600	Active TSS	Fetal Stomach	stomach
33	chr6:31164800-31166600	Active TSS	Lung	lung
34	chr6:31164800-31166800	Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr6:31164800-31166800	Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr6:31164800-31166800	Active TSS	Muscle Satellite Cultured Cells	--
37	chr6:31164800-31166800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr6:31164800-31166800	Active TSS	Brain Anterior Caudate	brain
39	chr6:31164800-31166800	Active TSS	Colonic Mucosa	Colon
40	chr6:31164800-31166800	Active TSS	Esophagus	oesophagus
41	chr6:31164800-31167000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr6:31164800-31167000	Active TSS	Hela-S3	cervix
43	chr6:31164800-31167200	Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr6:31164800-31167200	Active TSS	Primary T cells from cord blood	blood
45	chr6:31164800-31167400	Active TSS	Liver	Liver
46	chr6:31164800-31167400	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr6:31164800-31167400	Active TSS	GM12878-XiMat	blood
48	chr6:31164800-31167800	Active TSS	Rectal Smooth Muscle	rectum
49	chr6:31165000-31166400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:31165000-31166400	Active TSS	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links