Variant report

Variant	rs2844724
Chromosome Location	chr6:30469190-30469191
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30460308..30463504-chr6:30467880..30470145,3	K562	blood:
2	chr6:30455779..30460084-chr6:30467549..30471696,4	K562	blood:
3	chr6:30459180..30463504-chr6:30468325..30471829,5	K562	blood:
4	chr6:30467302..30470301-chr6:30557602..30560593,2	K562	blood:

Variant related genes	Relation type
ENSG00000204592	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs1058318	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1264432	0.81[EUR][1000 genomes]
rs1264437	0.83[EUR][1000 genomes]
rs1264438	0.83[EUR][1000 genomes]
rs1264439	0.83[EUR][1000 genomes]
rs1264440	0.84[EUR][1000 genomes]
rs1264448	0.81[EUR][1000 genomes]
rs1264456	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1362119	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1468079	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2023608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2023609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2074503	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2074504	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2074505	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2109477	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2269709	0.86[EUR][1000 genomes]
rs2269710	0.83[EUR][1000 genomes]
rs2429655	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2429656	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2508021	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2508022	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2508023	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2508024	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2516639	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2516641	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2516642	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2516643	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2516644	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2516646	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2516647	0.82[EUR][1000 genomes]
rs2516648	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2516649	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2516653	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2516655	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2516656	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2516660	0.81[ASN][1000 genomes]
rs2516662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2516665	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2524221	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2524223	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2524224	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2524225	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2524226	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2534802	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2534803	0.88[EUR][1000 genomes]
rs2534804	0.88[EUR][1000 genomes]
rs2534805	0.86[EUR][1000 genomes]
rs2534806	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2534807	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2534808	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2534809	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2534810	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2534811	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2534812	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2534813	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2534814	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2534815	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2534817	0.88[EUR][1000 genomes]
rs2534820	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2534821	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2534823	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2534824	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2534825	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2844713	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2844714	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2844715	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2844716	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2844717	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2844718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2844720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2844721	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2844722	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2844723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2844725	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3094718	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3095280	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3130039	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3130041	0.86[EUR][1000 genomes]
rs3130043	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3130045	0.86[EUR][1000 genomes]
rs3130240	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3130242	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3130243	0.87[EUR][1000 genomes]
rs3130244	0.88[EUR][1000 genomes]
rs3132609	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3132612	0.84[EUR][1000 genomes]
rs3132613	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3132614	0.89[EUR][1000 genomes]
rs9262070	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9262082	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9262118	0.89[EUR][1000 genomes]
rs975195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs996588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs996589	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2844724	ABT1	cis	parietal	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30460800-30475400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:30467600-30469200	Enhancers	Primary B cells from peripheral blood	blood
3	chr6:30467800-30469200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr6:30467800-30469200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:30468000-30469200	Enhancers	Primary hematopoietic stem cells	blood
6	chr6:30468000-30469200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr6:30468000-30469200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:30468000-30469200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:30468200-30469200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr6:30468200-30469200	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr6:30468200-30469200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr6:30468200-30469200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr6:30468200-30469200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:30468200-30469200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:30468200-30469200	Enhancers	NHEK	skin
16	chr6:30468600-30469200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:30468600-30476000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr6:30468800-30469200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr6:30468800-30469200	Enhancers	Duodenum Mucosa	Duodenum
20	chr6:30468800-30469600	Enhancers	Primary B cells from cord blood	blood
21	chr6:30468800-30475400	Weak transcription	Esophagus	oesophagus
22	chr6:30468800-30483800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:30469000-30469200	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr6:30469000-30469200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:30469000-30469200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:30469000-30469200	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr6:30469000-30469200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:30469000-30469200	Enhancers	GM12878-XiMat	blood
29	chr6:30469000-30469200	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr6:30469000-30469600	Enhancers	Primary T cells from cord blood	blood
31	chr6:30469000-30469600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr6:30469000-30469600	Enhancers	HUVEC	blood vessel
33	chr6:30469000-30472600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr6:30469000-30472800	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr6:30469000-30475000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:30469000-30475400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr6:30469000-30476800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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