Variant report

Variant	rs7251135
Chromosome Location	chr19:21582002-21582003
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21581402..21583289-chr19:21587139..21589283,2	K562	blood:

Variant related genes	Relation type
ENSG00000196268	Chromatin interaction
ENSG00000269237	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10414834	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10424079	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11666213	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11666447	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11666525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11666540	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11667103	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11667361	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11667392	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11669033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11669790	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11670815	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11670868	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11672341	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11672583	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11673320	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11879901	0.92[EUR][1000 genomes]
rs13346641	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1621154	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1626404	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1762578	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17680605	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1781867	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1781872	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1967182	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2061916	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2154302	0.89[EUR][1000 genomes]
rs2358993	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2359144	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2359145	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2562405	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2562411	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2562413	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2562416	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2650776	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2650844	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2650848	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs279807	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs279809	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2914646	0.84[AFR][1000 genomes]
rs3853837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3853838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4321312	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4327181	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4359573	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4544364	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4638726	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55756795	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55790393	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55875743	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55899865	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57299552	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58412280	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60173523	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61035285	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62107465	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62107468	0.82[EUR][1000 genomes]
rs62107469	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62107472	0.91[EUR][1000 genomes]
rs62107479	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62107531	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62107532	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62107534	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62107536	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62107539	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62107540	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62107541	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62109225	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62109226	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62109227	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62109228	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62109229	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62110071	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110367	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62110377	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62110420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62110424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62110426	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62110427	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62110428	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62110429	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7246339	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7258099	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7258473	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7258562	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73537884	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv911420	chr19:21454672-21613397	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2751783	chr19:21465822-21726337	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	esv3363678	chr19:21483148-21756908	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	esv1793996	chr19:21544242-21609607	Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv1801985	chr19:21544242-21609607	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	esv1844586	chr19:21544242-21609607	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	esv1834499	chr19:21557835-21609607	Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	esv1834993	chr19:21557835-21609607	Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv911421	chr19:21579718-21613397	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
15	nsv978789	chr19:21579953-21589286	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7251135	RP11-678G14.2	cis	Esophagus Muscularis	GTEx
rs7251135	ZNF708	cis	Skin Sun Exposed Lower leg	GTEx
rs7251135	RP11-678G14.3	cis	Adipose Subcutaneous	GTEx
rs7251135	ZNF708	cis	lung	GTEx
rs7251135	RP11-678G14.2	cis	Whole Blood	GTEx
rs7251135	ZNF708	cis	Muscle Skeletal	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21580600-21582200	Weak transcription	A549	lung
2	chr19:21580600-21585000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr19:21580600-21592600	Weak transcription	Placenta	Placenta
4	chr19:21580600-21593200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:21580600-21593600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr19:21580600-21600200	Weak transcription	Gastric	stomach
7	chr19:21580600-21602400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:21580800-21583000	Weak transcription	Fetal Muscle Leg	muscle
9	chr19:21580800-21595400	Weak transcription	HUVEC	blood vessel
10	chr19:21581000-21582600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:21581000-21583000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr19:21581000-21583000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr19:21581000-21583400	Weak transcription	Brain Substantia Nigra	brain
14	chr19:21581000-21583400	Weak transcription	NHDF-Ad	bronchial
15	chr19:21581000-21584600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr19:21581000-21591800	Weak transcription	Pancreas	Pancrea
17	chr19:21581000-21596200	Weak transcription	Aorta	Aorta
18	chr19:21581000-21598800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:21581200-21582200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr19:21581200-21582400	Genic enhancers	Left Ventricle	heart
21	chr19:21581200-21582600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr19:21581200-21583400	Weak transcription	Fetal Thymus	thymus
23	chr19:21581200-21584200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr19:21581200-21584200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
25	chr19:21581200-21590200	Weak transcription	NHLF	lung
26	chr19:21581400-21582200	Genic enhancers	Primary T cells fromperipheralblood	blood
27	chr19:21581400-21582200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr19:21581400-21582400	Weak transcription	Osteobl	bone
29	chr19:21581400-21582600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr19:21581400-21582800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr19:21581400-21583000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr19:21581400-21583000	Weak transcription	Fetal Brain Male	brain
33	chr19:21581400-21583200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr19:21581400-21583200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr19:21581400-21583400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr19:21581400-21583400	Weak transcription	NHEK	skin
37	chr19:21581400-21583800	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr19:21581400-21584200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chr19:21581400-21584200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr19:21581400-21585200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr19:21581400-21585400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr19:21581400-21585400	Weak transcription	Colonic Mucosa	Colon
43	chr19:21581400-21586200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr19:21581400-21588400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr19:21581400-21588600	Weak transcription	Fetal Stomach	stomach
46	chr19:21581400-21589000	Weak transcription	K562	blood
47	chr19:21581400-21592000	Weak transcription	NH-A	brain
48	chr19:21581400-21594600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr19:21581400-21596800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr19:21581400-21598800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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