Variant report

Variant	rs2508024
Chromosome Location	chr6:30465512-30465513
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30461133..30465546-chr6:30581311..30587610,6	K562	blood:
2	chr6:30461955..30465538-chr6:30528030..30531365,3	K562	blood:
3	chr6:30464045..30467237-chr6:30469293..30473855,6	K562	blood:
4	chr6:30463933..30465752-chr6:30565094..30566698,2	MCF-7	breast:
5	chr6:30464045..30467741-chr6:30469298..30473855,7	K562	blood:
6	chr6:30463377..30466095-chr6:30710317..30712311,2	K562	blood:
7	chr6:30463426..30465717-chr6:30474253..30476721,2	MCF-7	breast:
8	chr6:30461233..30466153-chr6:30523018..30526290,6	K562	blood:
9	chr6:30464414..30466263-chr6:30565221..30566781,2	K562	blood:
10	chr6:30455822..30466395-chr6:30579571..30587610,27	K562	blood:
11	chr6:30464351..30466086-chr6:30484035..30486195,2	MCF-7	breast:

No data

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

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1264440	0.80[EUR][1000 genomes]
rs1264456	0.85[EUR][1000 genomes]
rs1362119	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1468079	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2023608	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2023609	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2074505	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2269709	0.81[EUR][1000 genomes]
rs2429655	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2508021	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2508022	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2508023	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2516639	0.83[EUR][1000 genomes]
rs2516642	0.81[EUR][1000 genomes]
rs2516643	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2516644	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2516646	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2516647	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2516648	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2516649	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2516653	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2516655	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2516656	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2516659	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2516660	0.82[ASN][1000 genomes]
rs2516661	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2516662	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2524221	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2524224	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2524225	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2534802	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2534806	0.80[ASN][1000 genomes]
rs2534807	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2534809	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2534810	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2534811	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2534812	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2534813	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2534815	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2534820	0.85[EUR][1000 genomes]
rs2534823	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2534824	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2534825	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2844713	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2844714	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2844715	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2844716	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2844717	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2844718	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2844720	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2844723	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2844724	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2844725	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3094718	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3130039	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3130041	0.82[EUR][1000 genomes]
rs3130043	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3130045	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3130243	0.82[EUR][1000 genomes]
rs3130244	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3132609	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9262070	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9262082	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9262118	0.84[EUR][1000 genomes]
rs975195	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs996588	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs996589	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2508024	ABT1	cis	parietal	SCAN

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30458600-30465600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:30458600-30467400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:30460200-30468800	Weak transcription	HSMMtube	muscle
4	chr6:30460600-30466400	Weak transcription	Brain Anterior Caudate	brain
5	chr6:30460800-30465600	Weak transcription	Right Atrium	heart
6	chr6:30460800-30468400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:30460800-30468400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:30460800-30475400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:30461400-30468000	Weak transcription	Dnd41	blood
10	chr6:30461400-30468200	Weak transcription	Small Intestine	intestine
11	chr6:30461400-30468400	Weak transcription	Placenta	Placenta
12	chr6:30461600-30468400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr6:30461800-30468400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:30462200-30465600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr6:30462200-30465800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr6:30462200-30468200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr6:30462200-30468400	Weak transcription	Esophagus	oesophagus
18	chr6:30462400-30465800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr6:30462400-30465800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:30462400-30468600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr6:30462600-30465600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr6:30462600-30465600	Weak transcription	Right Ventricle	heart
23	chr6:30462600-30465600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr6:30462600-30465800	Enhancers	Primary B cells from peripheral blood	blood
25	chr6:30462600-30465800	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr6:30462600-30468200	Weak transcription	Spleen	Spleen
27	chr6:30462800-30465800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr6:30463400-30465800	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr6:30463400-30465800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:30463600-30465600	Enhancers	Primary T cells from cord blood	blood
31	chr6:30464000-30465600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr6:30464200-30465600	Enhancers	NHDF-Ad	bronchial
33	chr6:30464200-30465800	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr6:30464200-30465800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:30464200-30465800	Enhancers	HepG2	liver
36	chr6:30464400-30465800	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr6:30464400-30468400	Weak transcription	Lung	lung
38	chr6:30464600-30465600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr6:30464600-30466000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr6:30464600-30468200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:30464600-30468200	Weak transcription	GM12878-XiMat	blood
42	chr6:30464600-30468400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr6:30464800-30465800	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr6:30464800-30465800	Enhancers	K562	blood
45	chr6:30464800-30467400	Weak transcription	HMEC	breast
46	chr6:30464800-30467600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr6:30464800-30468000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr6:30464800-30468000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr6:30464800-30468200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr6:30464800-30468200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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