Variant report

Variant	rs73493943
Chromosome Location	chr11:75650019-75650020
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75648758..75651551-chr11:75653084..75655719,3	MCF-7	breast:
2	chr11:75645975..75650713-chr11:75652976..75655754,4	K562	blood:

Variant related genes	Relation type
ENSG00000254915	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11820368	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11822610	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11823080	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11825180	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11825402	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11827625	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11828568	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1380074	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1380075	0.91[EUR][1000 genomes]
rs1380076	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1380077	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17134442	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17134444	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17134447	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17134448	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17134477	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1995893	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2099856	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2371719	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5026790	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56366270	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58050930	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59147439	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59656978	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60175455	0.84[EUR][1000 genomes]
rs60935802	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61311719	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6592616	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7104218	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7107458	0.94[EUR][1000 genomes]
rs7108765	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109235	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7109363	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7113365	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7114160	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7115483	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7115657	0.97[EUR][1000 genomes]
rs7117696	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7120267	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7126845	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs713275	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73493909	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73493938	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73493942	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73493944	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73493952	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7927825	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7927853	0.97[EUR][1000 genomes]
rs7927868	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7931418	0.97[EUR][1000 genomes]
rs7931944	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7937633	0.94[EUR][1000 genomes]
rs7941207	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949033	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7951333	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75586600-75676000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr11:75603600-75657000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:75604600-75657600	Weak transcription	Fetal Thymus	thymus
4	chr11:75606400-75652400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:75622800-75657600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:75625000-75682400	Weak transcription	Primary T cells from cord blood	blood
7	chr11:75625200-75656800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr11:75625400-75657600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:75625600-75652400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr11:75636400-75677400	Weak transcription	Hela-S3	cervix
11	chr11:75637000-75656400	Weak transcription	Brain Anterior Caudate	brain
12	chr11:75637400-75651000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:75637400-75651000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:75639400-75656800	Weak transcription	Fetal Intestine Small	intestine
15	chr11:75642400-75653400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:75642800-75656600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr11:75646800-75654600	Weak transcription	Brain Hippocampus Middle	brain
18	chr11:75647200-75651800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:75647800-75650200	Enhancers	HUVEC	blood vessel
20	chr11:75648400-75651400	Enhancers	NHDF-Ad	bronchial
21	chr11:75648600-75653600	Enhancers	Adipose Nuclei	Adipose
22	chr11:75649000-75650200	Weak transcription	Brain Substantia Nigra	brain
23	chr11:75649200-75650400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:75649200-75650400	Enhancers	Osteobl	bone
25	chr11:75649200-75651000	Enhancers	Colon Smooth Muscle	Colon
26	chr11:75649400-75650200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr11:75649400-75650400	Enhancers	Rectal Smooth Muscle	rectum
28	chr11:75649400-75650800	Genic enhancers	Primary B cells from peripheral blood	blood
29	chr11:75649400-75650800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr11:75649400-75651200	Enhancers	NHLF	lung
31	chr11:75649600-75650200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:75649600-75650200	Enhancers	Psoas Muscle	Psoas
33	chr11:75649600-75650200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr11:75649600-75650600	Enhancers	NHEK	skin
35	chr11:75649600-75650800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:75649600-75651000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr11:75649600-75651000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:75649600-75653200	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr11:75649800-75650200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:75649800-75650200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:75649800-75650400	Enhancers	GM12878-XiMat	blood
42	chr11:75649800-75650800	Enhancers	Small Intestine	intestine
43	chr11:75649800-75651000	Enhancers	Fetal Lung	lung
44	chr11:75649800-75651400	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr11:75650000-75650400	Weak transcription	Primary B cells from cord blood	blood
46	chr11:75650000-75650600	Weak transcription	Right Ventricle	heart
47	chr11:75650000-75650800	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr11:75650000-75652000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr11:75650000-75653000	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr11:75650000-75654800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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