Variant report

Variant	rs3131117
Chromosome Location	chr6:30465978-30465979
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30464045..30467237-chr6:30469293..30473855,6	K562	blood:
2	chr6:30464045..30467741-chr6:30469298..30473855,7	K562	blood:
3	chr6:30463377..30466095-chr6:30710317..30712311,2	K562	blood:
4	chr6:30461233..30466153-chr6:30523018..30526290,6	K562	blood:
5	chr6:30464414..30466263-chr6:30565221..30566781,2	K562	blood:
6	chr6:30455822..30466395-chr6:30579571..30587610,27	K562	blood:
7	chr6:30464351..30466086-chr6:30484035..30486195,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204590	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000235781	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000204576	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1264510	0.91[ASN][1000 genomes]
rs2516670	0.91[ASN][1000 genomes]
rs2524172	0.91[ASN][1000 genomes]
rs3130040	0.80[EUR][1000 genomes]
rs9262081	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv884070	chr6:30430875-30472772	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
6	nsv884076	chr6:30434566-30483919	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
7	nsv884077	chr6:30434900-30512163	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers 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 miRNA target site	967 gene(s)	inside rSNPs	diseases
9	nsv884081	chr6:30455920-30472772	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
10	nsv884082	chr6:30455920-30475431	Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
11	nsv884083	chr6:30462084-30470669	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
12	nsv884084	chr6:30462084-30475431	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
13	nsv884085	chr6:30462084-30482080	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
14	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
15	nsv884087	chr6:30465792-30475431	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
16	nsv884088	chr6:30465792-30480434	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
17	nsv884089	chr6:30465792-30482080	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30458600-30467400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:30460200-30468800	Weak transcription	HSMMtube	muscle
3	chr6:30460600-30466400	Weak transcription	Brain Anterior Caudate	brain
4	chr6:30460800-30468400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:30460800-30468400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:30460800-30475400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:30461400-30468000	Weak transcription	Dnd41	blood
8	chr6:30461400-30468200	Weak transcription	Small Intestine	intestine
9	chr6:30461400-30468400	Weak transcription	Placenta	Placenta
10	chr6:30461600-30468400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr6:30461800-30468400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:30462200-30468200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr6:30462200-30468400	Weak transcription	Esophagus	oesophagus
14	chr6:30462400-30468600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr6:30462600-30468200	Weak transcription	Spleen	Spleen
16	chr6:30464400-30468400	Weak transcription	Lung	lung
17	chr6:30464600-30466000	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr6:30464600-30468200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:30464600-30468200	Weak transcription	GM12878-XiMat	blood
20	chr6:30464600-30468400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr6:30464800-30467400	Weak transcription	HMEC	breast
22	chr6:30464800-30467600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr6:30464800-30468000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:30464800-30468000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr6:30464800-30468200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr6:30464800-30468200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:30464800-30468200	Weak transcription	NHEK	skin
28	chr6:30464800-30468400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:30464800-30468400	Weak transcription	Adipose Nuclei	Adipose
30	chr6:30464800-30468400	Weak transcription	NH-A	brain
31	chr6:30465000-30467800	Weak transcription	Primary B cells from cord blood	blood
32	chr6:30465000-30468000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:30465000-30468200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:30465000-30468200	Weak transcription	NHLF	lung
35	chr6:30465000-30468200	Weak transcription	Osteobl	bone
36	chr6:30465000-30468400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:30465000-30468400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr6:30465000-30468400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr6:30465000-30468400	Weak transcription	HSMM	muscle
40	chr6:30465400-30468000	Weak transcription	HUVEC	blood vessel
41	chr6:30465400-30468200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:30465400-30468200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:30465600-30467600	Weak transcription	Primary T cells from cord blood	blood
44	chr6:30465600-30467800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr6:30465600-30468000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr6:30465600-30468000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr6:30465600-30468000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr6:30465600-30468000	Weak transcription	NHDF-Ad	bronchial
49	chr6:30465600-30468200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr6:30465600-30468400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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