Variant report

Variant	rs2508023
Chromosome Location	chr6:30467067-30467068
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30466761..30468870-chr6:30526489..30529177,2	K562	blood:
2	chr6:30464045..30467237-chr6:30469293..30473855,6	K562	blood:
3	chr6:30464045..30467741-chr6:30469298..30473855,7	K562	blood:
4	chr6:30466122..30468758-chr6:30475477..30477398,2	K562	blood:

Variant related genes	Relation type
ENSG00000204576	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1264456	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1362119	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1468079	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2023608	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2023609	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2074505	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2109477	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2429655	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2429656	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2508021	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2508022	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2508024	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2516639	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2516642	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2516643	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2516644	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2516646	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2516648	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2516649	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2516653	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2516656	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2516660	0.82[ASN][1000 genomes]
rs2516662	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2516665	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2524221	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2524224	0.84[ASN][1000 genomes]
rs2524225	0.84[ASN][1000 genomes]
rs2524226	0.83[AMR][1000 genomes]
rs2534802	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2534806	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2534807	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2534808	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2534809	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2534810	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2534812	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2534813	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2534814	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2534815	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2534820	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2534821	0.81[AMR][1000 genomes]
rs2534823	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2534824	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2534825	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2844713	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2844714	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2844715	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2844716	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2844717	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2844718	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2844720	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2844721	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2844722	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2844723	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2844724	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2844725	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3094718	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3095280	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3130039	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3130240	0.81[EUR][1000 genomes]
rs9262070	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9262082	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs975195	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs996588	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs996589	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][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:67 , 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	chr6:30460800-30468400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:30460800-30468400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:30460800-30475400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:30461400-30468000	Weak transcription	Dnd41	blood
7	chr6:30461400-30468200	Weak transcription	Small Intestine	intestine
8	chr6:30461400-30468400	Weak transcription	Placenta	Placenta
9	chr6:30461600-30468400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr6:30461800-30468400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:30462200-30468200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:30462200-30468400	Weak transcription	Esophagus	oesophagus
13	chr6:30462400-30468600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr6:30462600-30468200	Weak transcription	Spleen	Spleen
15	chr6:30464400-30468400	Weak transcription	Lung	lung
16	chr6:30464600-30468200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:30464600-30468200	Weak transcription	GM12878-XiMat	blood
18	chr6:30464600-30468400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr6:30464800-30467400	Weak transcription	HMEC	breast
20	chr6:30464800-30467600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr6:30464800-30468000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr6:30464800-30468000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr6:30464800-30468200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr6:30464800-30468200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:30464800-30468200	Weak transcription	NHEK	skin
26	chr6:30464800-30468400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:30464800-30468400	Weak transcription	Adipose Nuclei	Adipose
28	chr6:30464800-30468400	Weak transcription	NH-A	brain
29	chr6:30465000-30467800	Weak transcription	Primary B cells from cord blood	blood
30	chr6:30465000-30468000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:30465000-30468200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:30465000-30468200	Weak transcription	NHLF	lung
33	chr6:30465000-30468200	Weak transcription	Osteobl	bone
34	chr6:30465000-30468400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:30465000-30468400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr6:30465000-30468400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:30465000-30468400	Weak transcription	HSMM	muscle
38	chr6:30465400-30468000	Weak transcription	HUVEC	blood vessel
39	chr6:30465400-30468200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:30465400-30468200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:30465600-30467600	Weak transcription	Primary T cells from cord blood	blood
42	chr6:30465600-30467800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr6:30465600-30468000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr6:30465600-30468000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr6:30465600-30468000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr6:30465600-30468000	Weak transcription	NHDF-Ad	bronchial
47	chr6:30465600-30468200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr6:30465600-30468400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr6:30465800-30467400	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr6:30465800-30467600	Weak transcription	Primary B cells from peripheral blood	blood

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