Variant report

Variant	rs17131539
Chromosome Location	chr1:92190482-92190483
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:92189655..92191426-chr1:92192587..92194510,2	K562	blood:
2	chr1:92189258..92193188-chr1:92194522..92196591,3	K562	blood:
3	chr1:92182554..92184890-chr1:92189322..92192184,2	K562	blood:
4	chr1:92184011..92187610-chr1:92188347..92192369,4	K562	blood:

Variant related genes	Relation type
ENSG00000069702	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1012069	0.82[CEU][hapmap];0.82[AMR][1000 genomes]
rs11165347	0.88[CEU][hapmap];0.82[AMR][1000 genomes]
rs1542703	0.83[CEU][hapmap];0.82[AMR][1000 genomes]
rs1542704	0.82[AMR][1000 genomes]
rs17884552	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2007686	0.82[EUR][1000 genomes]
rs2029354	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2029355	0.90[EUR][1000 genomes]
rs2296620	0.87[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2296622	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs284180	0.88[JPT][hapmap]
rs284877	0.83[CEU][hapmap]
rs3754014	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs4658260	1.00[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4658261	1.00[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6699304	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72714444	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72714493	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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	14 gene(s)	inside rSNPs	diseases
2	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv2763581	chr1:92068967-92203803	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1014990	chr1:92084142-92206674	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv1005917	chr1:92189945-92378683	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92153000-92197000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:92155800-92191200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:92164000-92195000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr1:92165800-92196800	Weak transcription	Small Intestine	intestine
5	chr1:92166600-92191000	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:92168000-92191000	Weak transcription	HUVEC	blood vessel
7	chr1:92171000-92196800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:92171200-92196800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:92172800-92197000	Weak transcription	Colonic Mucosa	Colon
10	chr1:92173200-92202400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:92173600-92197800	Weak transcription	Brain Angular Gyrus	brain
12	chr1:92174400-92191200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr1:92179000-92191600	Strong transcription	Placenta	Placenta
14	chr1:92179400-92191000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:92179400-92192600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:92179400-92195200	Weak transcription	GM12878-XiMat	blood
17	chr1:92180800-92194400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr1:92181800-92190600	Strong transcription	NHDF-Ad	bronchial
19	chr1:92182000-92194400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:92182400-92191000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:92182400-92191000	Weak transcription	Osteobl	bone
22	chr1:92184000-92191200	Weak transcription	Fetal Kidney	kidney
23	chr1:92184000-92195000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr1:92184800-92195600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:92185200-92196600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:92185400-92191600	Weak transcription	Brain Anterior Caudate	brain
27	chr1:92185400-92196400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:92185400-92196600	Weak transcription	A549	lung
29	chr1:92185600-92193400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr1:92185600-92196800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:92185800-92190600	Weak transcription	Left Ventricle	heart
32	chr1:92185800-92191600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:92185800-92192800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr1:92185800-92194400	Weak transcription	Fetal Intestine Large	intestine
35	chr1:92185800-92194600	Weak transcription	Lung	lung
36	chr1:92185800-92195200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr1:92185800-92196800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:92185800-92196800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr1:92185800-92196800	Weak transcription	Pancreas	Pancrea
40	chr1:92185800-92197600	Weak transcription	Fetal Intestine Small	intestine
41	chr1:92186000-92191000	Weak transcription	Aorta	Aorta
42	chr1:92186000-92191400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr1:92186000-92194600	Weak transcription	Spleen	Spleen
44	chr1:92186000-92195200	Weak transcription	Esophagus	oesophagus
45	chr1:92186000-92196800	Weak transcription	Gastric	stomach
46	chr1:92186200-92195400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr1:92186400-92191000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:92186400-92191200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:92186400-92196400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:92187000-92195600	Weak transcription	Hela-S3	cervix

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