Variant report

Variant	rs57031821
Chromosome Location	chr11:74506636-74506637
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74458687..74461442-chr11:74503355..74507008,3	MCF-7	breast:
2	chr11:74505770..74509480-chr11:74510244..74512859,3	K562	blood:
3	chr11:74505770..74508769-chr11:74510244..74513511,3	K562	blood:

Variant related genes	Relation type
ENSG00000166439	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10160407	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10501418	0.87[EUR][1000 genomes]
rs11236224	1.00[ASN][1000 genomes]
rs11236229	1.00[ASN][1000 genomes]
rs11236239	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11236247	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236249	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236259	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236293	0.83[AMR][1000 genomes]
rs11501909	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11501910	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12098929	1.00[AMR][1000 genomes]
rs12270712	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12271211	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12271960	0.83[AMR][1000 genomes]
rs12272764	1.00[ASN][1000 genomes]
rs12273852	0.83[AMR][1000 genomes]
rs12274227	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275056	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12278314	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12283412	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12283768	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12284331	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12285302	0.83[EUR][1000 genomes]
rs12286425	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12286482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12287287	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12288052	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12290339	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12292428	0.83[AMR][1000 genomes]
rs13343191	1.00[AMR][1000 genomes]
rs1439677	0.83[AMR][1000 genomes]
rs28637653	0.85[AMR][1000 genomes]
rs4133526	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56306513	1.00[ASN][1000 genomes]
rs59481855	1.00[ASN][1000 genomes]
rs6592593	1.00[ASN][1000 genomes]
rs7109667	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111955	0.83[AMR][1000 genomes]
rs7125078	1.00[ASN][1000 genomes]
rs7128783	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72991236	1.00[ASN][1000 genomes]
rs72991239	1.00[ASN][1000 genomes]
rs72991244	1.00[ASN][1000 genomes]
rs73490680	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73490691	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73492727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73492743	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73492794	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73496929	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73496931	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73498736	0.83[AMR][1000 genomes]
rs73498737	0.83[AMR][1000 genomes]
rs7928010	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947106	1.00[ASN][1000 genomes]
rs9943586	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[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	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv932190	chr11:74359867-74618935	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
7	nsv897916	chr11:74465068-74574677	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv897917	chr11:74474266-74595507	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv38718	chr11:74505340-74507033	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74494800-74530600	Weak transcription	NH-A	brain
2	chr11:74496000-74508000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr11:74496000-74518200	Weak transcription	Psoas Muscle	Psoas
4	chr11:74496200-74507800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:74496200-74533000	Weak transcription	Fetal Brain Male	brain
6	chr11:74500000-74508600	Strong transcription	Fetal Muscle Trunk	muscle
7	chr11:74500600-74508600	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr11:74500600-74509200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:74500800-74507000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:74500800-74509400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:74500800-74510600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:74501200-74506800	Strong transcription	Fetal Lung	lung
13	chr11:74501600-74507600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr11:74502200-74507800	Strong transcription	Fetal Muscle Leg	muscle
15	chr11:74502400-74506800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr11:74502400-74508800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:74502600-74507200	Weak transcription	Small Intestine	intestine
18	chr11:74502600-74508600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr11:74502600-74519400	Weak transcription	HUVEC	blood vessel
20	chr11:74502600-74527800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr11:74502800-74507000	Weak transcription	GM12878-XiMat	blood
22	chr11:74502800-74507600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:74502800-74545600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr11:74503000-74506800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:74503000-74506800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:74503000-74507000	Strong transcription	Dnd41	blood
27	chr11:74503000-74507600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr11:74503000-74507800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:74503000-74507800	Weak transcription	Left Ventricle	heart
30	chr11:74503000-74509200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:74503000-74510000	Weak transcription	Brain Anterior Caudate	brain
32	chr11:74503000-74519600	Weak transcription	Aorta	Aorta
33	chr11:74503000-74522600	Weak transcription	NHLF	lung
34	chr11:74503000-74528400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:74503000-74529400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr11:74503000-74530200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr11:74503000-74530600	Weak transcription	HSMMtube	muscle
38	chr11:74503000-74531600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:74503000-74533000	Weak transcription	Right Ventricle	heart
40	chr11:74503200-74507400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:74503200-74507800	Weak transcription	K562	blood
42	chr11:74503200-74515000	Weak transcription	Ovary	ovary
43	chr11:74503200-74519400	Weak transcription	Brain Hippocampus Middle	brain
44	chr11:74503200-74519600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:74503200-74524800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:74503200-74528600	Weak transcription	Lung	lung
47	chr11:74503200-74533000	Weak transcription	Gastric	stomach
48	chr11:74503200-74537800	Weak transcription	Pancreas	Pancrea
49	chr11:74503800-74508400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:74503800-74529000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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