Variant report

Variant	rs713275
Chromosome Location	chr11:75574314-75574315
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75513974..75516469-chr11:75574105..75576433,2	MCF-7	breast:
2	chr11:75523919..75526976-chr11:75573533..75576982,4	MCF-7	breast:
3	chr11:75574297..75577262-chr11:75579536..75582781,3	K562	blood:
4	chr11:75574297..75575842-chr11:75579536..75582464,2	K562	blood:
5	chr11:75571832..75577418-chr11:75578564..75580834,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198382	Chromatin interaction
ENSG00000255507	Chromatin interaction
ENSG00000254814	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11820368	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11822610	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11823080	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11825180	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11825402	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11827625	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11828568	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.89[YRI][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1380074	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1380075	1.00[EUR][1000 genomes]
rs1380076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1380077	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17134442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17134444	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17134447	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17134448	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17134477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1995893	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2099856	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.85[TSI][hapmap];0.89[YRI][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2371719	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5026790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56366270	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58050930	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59147439	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59656978	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60935802	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61311719	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592616	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104218	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7107458	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs7108765	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7109235	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109363	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7113365	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7114160	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.85[TSI][hapmap];0.82[YRI][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7115483	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7115657	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[EUR][1000 genomes]
rs7117696	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7120267	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];0.85[TSI][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7126845	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127326	0.81[GIH][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap]
rs73493909	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73493938	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73493942	0.91[EUR][1000 genomes]
rs73493943	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73493944	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73493952	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7927825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7927853	0.88[EUR][1000 genomes]
rs7927868	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];0.85[TSI][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7931418	0.88[EUR][1000 genomes]
rs7931944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7937633	0.97[EUR][1000 genomes]
rs7941207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7949033	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7951333	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv832212	chr11:75524993-75725623	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv515973	chr11:75569267-75832315	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75535400-75579000	Weak transcription	Fetal Intestine Large	intestine
2	chr11:75538800-75591400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:75544000-75584000	Weak transcription	Small Intestine	intestine
4	chr11:75547600-75600000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr11:75549800-75602800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:75552000-75580000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:75553800-75600800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:75557400-75586800	Weak transcription	Ovary	ovary
9	chr11:75558400-75602800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr11:75559800-75575600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr11:75560200-75579400	Weak transcription	Pancreas	Pancrea
12	chr11:75561200-75584200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:75561200-75584800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:75561200-75584800	Weak transcription	Lung	lung
15	chr11:75561400-75578400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr11:75561800-75576400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:75562000-75586400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:75562200-75585800	Weak transcription	Fetal Brain Male	brain
19	chr11:75562200-75590800	Weak transcription	Thymus	Thymus
20	chr11:75562400-75579400	Weak transcription	Fetal Thymus	thymus
21	chr11:75562600-75578400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr11:75562600-75579000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:75562600-75580000	Weak transcription	Fetal Lung	lung
24	chr11:75562600-75584800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:75562600-75591400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr11:75562600-75630400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr11:75562800-75577800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr11:75562800-75578000	Weak transcription	Brain Angular Gyrus	brain
29	chr11:75562800-75578000	Weak transcription	Brain Substantia Nigra	brain
30	chr11:75562800-75578000	Weak transcription	Colon Smooth Muscle	Colon
31	chr11:75562800-75578000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr11:75562800-75610800	Weak transcription	HSMMtube	muscle
33	chr11:75563800-75579000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:75564200-75577000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr11:75564200-75584400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:75565400-75591400	Weak transcription	Fetal Stomach	stomach
37	chr11:75565400-75592000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:75565800-75579200	Weak transcription	Psoas Muscle	Psoas
39	chr11:75565800-75591400	Weak transcription	Fetal Muscle Leg	muscle
40	chr11:75566400-75587400	Weak transcription	HepG2	liver
41	chr11:75566600-75577200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:75566600-75584400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:75567800-75575200	Weak transcription	Fetal Intestine Small	intestine
44	chr11:75568000-75591200	Weak transcription	Placenta	Placenta
45	chr11:75568200-75575600	Weak transcription	Hela-S3	cervix
46	chr11:75570000-75575600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:75570000-75578200	Weak transcription	NHLF	lung
48	chr11:75570000-75578400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr11:75570000-75579000	Weak transcription	Liver	Liver
50	chr11:75570000-75610600	Weak transcription	NHDF-Ad	bronchial

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