Variant report

Variant	rs7930891
Chromosome Location	chr11:73001283-73001284
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72999826..73001894-chr11:73086497..73088526,2	K562	blood:
2	chr11:72996129..72998235-chr11:73000749..73003241,2	MCF-7	breast:
3	chr11:73000200..73002176-chr11:73003016..73005569,2	K562	blood:
4	chr11:72953739..72954341-chr11:73000494..73001410,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171631	Chromatin interaction
ENSG00000054967	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10898913	0.95[ASN][1000 genomes]
rs10898914	0.95[ASN][1000 genomes]
rs10898915	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235701	0.95[ASN][1000 genomes]
rs11235703	1.00[ASN][1000 genomes]
rs11235705	1.00[ASN][1000 genomes]
rs11235706	1.00[ASN][1000 genomes]
rs11235707	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235708	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235709	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235710	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235711	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235712	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235713	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12276627	1.00[ASN][1000 genomes]
rs12363628	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12790447	1.00[ASN][1000 genomes]
rs12790863	1.00[ASN][1000 genomes]
rs12794405	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12801084	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808111	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894075	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28513476	1.00[ASN][1000 genomes]
rs34023835	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34385073	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35455220	1.00[ASN][1000 genomes]
rs35963948	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4432047	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592517	1.00[ASN][1000 genomes]
rs67897720	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7103650	1.00[ASN][1000 genomes]
rs7106903	1.00[ASN][1000 genomes]
rs7114877	0.95[ASN][1000 genomes]
rs7116594	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123808	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127013	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127179	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127705	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127940	1.00[ASN][1000 genomes]
rs7942649	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs882904	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv520665	chr11:72999221-73061856	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72997000-73003400	Enhancers	Fetal Intestine Large	intestine
2	chr11:72998400-73003600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:72998600-73001600	Enhancers	Primary B cells from cord blood	blood
4	chr11:72998600-73002000	Enhancers	Primary B cells from peripheral blood	blood
5	chr11:72999000-73004600	Enhancers	Spleen	Spleen
6	chr11:72999200-73002600	Enhancers	Placenta	Placenta
7	chr11:72999800-73005000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr11:73000600-73003000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:73000600-73003000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:73000600-73003400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:73000600-73003400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:73000600-73011200	Weak transcription	Aorta	Aorta
13	chr11:73000800-73001600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:73000800-73001600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:73000800-73001800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:73000800-73002400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:73000800-73003200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:73000800-73003400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:73000800-73006200	Weak transcription	Right Atrium	heart
20	chr11:73000800-73007400	Weak transcription	Right Ventricle	heart
21	chr11:73000800-73008200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr11:73000800-73018000	Weak transcription	Pancreas	Pancrea
23	chr11:73001000-73001800	Weak transcription	Fetal Intestine Small	intestine
24	chr11:73001000-73002000	Weak transcription	A549	lung
25	chr11:73001000-73002400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr11:73001000-73002800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:73001000-73003000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:73001000-73003000	Weak transcription	NH-A	brain
29	chr11:73001000-73003200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:73001000-73003400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:73001000-73003400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr11:73001000-73003400	Weak transcription	Osteobl	bone
33	chr11:73001000-73004000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr11:73001000-73005200	Weak transcription	NHDF-Ad	bronchial
35	chr11:73001000-73006200	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr11:73001000-73006200	Weak transcription	Fetal Heart	heart
37	chr11:73001000-73006200	Weak transcription	Hela-S3	cervix
38	chr11:73001000-73006200	Weak transcription	HMEC	breast
39	chr11:73001000-73006200	Weak transcription	HSMM	muscle
40	chr11:73001000-73006400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:73001000-73006400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:73001000-73006400	Weak transcription	Colon Smooth Muscle	Colon
43	chr11:73001000-73006400	Weak transcription	Left Ventricle	heart
44	chr11:73001200-73001400	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr11:73001200-73001600	Weak transcription	Fetal Muscle Leg	muscle
46	chr11:73001200-73001600	Enhancers	GM12878-XiMat	blood
47	chr11:73001200-73002200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr11:73001200-73003600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:73001200-73006200	Weak transcription	HUVEC	blood vessel
50	chr11:73001200-73010800	Weak transcription	Adipose Nuclei	Adipose

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