Variant report

Variant	rs4756990
Chromosome Location	chr11:19141210-19141211
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:19137216..19140215-chr11:19140251..19142012,2	K562	blood:
2	chr11:19137680..19140676-chr11:19140907..19143040,2	MCF-7	breast:
3	chr11:19140016..19142477-chr11:19255077..19256863,2	K562	blood:

Variant related genes	Relation type
ENSG00000177054	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10500841	0.93[EUR][1000 genomes]
rs10741761	0.93[EUR][1000 genomes]
rs10766528	0.93[EUR][1000 genomes]
rs10833064	0.93[EUR][1000 genomes]
rs10833065	0.93[EUR][1000 genomes]
rs11025025	0.94[EUR][1000 genomes]
rs11025026	0.94[EUR][1000 genomes]
rs11025028	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11025037	0.91[EUR][1000 genomes]
rs11604471	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11604483	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11606057	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11607797	0.91[EUR][1000 genomes]
rs12270581	0.91[EUR][1000 genomes]
rs12273085	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12801321	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1503506	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1503507	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1503508	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1546327	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2042687	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2042688	0.88[EUR][1000 genomes]
rs2134622	0.91[EUR][1000 genomes]
rs2271001	0.91[EUR][1000 genomes]
rs28891775	0.88[EUR][1000 genomes]
rs3802796	0.91[EUR][1000 genomes]
rs3802797	0.91[EUR][1000 genomes]
rs3802798	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4515942	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4757757	0.93[EUR][1000 genomes]
rs4757758	0.93[EUR][1000 genomes]
rs4757759	0.91[EUR][1000 genomes]
rs4757760	0.91[EUR][1000 genomes]
rs7111105	0.94[EUR][1000 genomes]
rs7129212	0.93[EUR][1000 genomes]
rs7129326	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7950603	0.91[EUR][1000 genomes]
rs7950788	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040805	chr11:19037871-19892803	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv540957	chr11:19037871-19892803	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:19139400-19142000	Enhancers	Primary T killer memory cells from peripheral blood	blood
2	chr11:19139400-19144800	Weak transcription	Left Ventricle	heart
3	chr11:19139400-19147800	Weak transcription	Spleen	Spleen
4	chr11:19139400-19151400	Weak transcription	Aorta	Aorta
5	chr11:19139400-19156200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:19139400-19156200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:19139600-19141400	Enhancers	Primary T cells fromperipheralblood	blood
8	chr11:19139600-19141400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr11:19139600-19142200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:19139600-19142600	Weak transcription	Gastric	stomach
11	chr11:19139600-19143000	Weak transcription	Osteobl	bone
12	chr11:19139600-19143200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr11:19139600-19143400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:19139600-19143600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr11:19139600-19143600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:19139600-19143800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr11:19139600-19144800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:19139600-19144800	Weak transcription	Psoas Muscle	Psoas
19	chr11:19139600-19146400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:19139600-19148200	Weak transcription	Fetal Muscle Leg	muscle
21	chr11:19139600-19149200	Weak transcription	HSMM	muscle
22	chr11:19139600-19150400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:19139600-19153600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:19139600-19153800	Weak transcription	Ovary	ovary
25	chr11:19139600-19175000	Weak transcription	Pancreas	Pancrea
26	chr11:19139800-19141800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr11:19139800-19142000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:19139800-19143000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:19139800-19143200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:19139800-19143200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:19139800-19143200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr11:19139800-19143400	Weak transcription	Liver	Liver
33	chr11:19139800-19146200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:19139800-19149200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr11:19139800-19153800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr11:19139800-19154200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:19139800-19155000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr11:19139800-19172000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:19140000-19141600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr11:19140000-19142000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:19140000-19142000	Weak transcription	NHLF	lung
42	chr11:19140000-19143000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:19140000-19143000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr11:19140000-19143000	Weak transcription	A549	lung
45	chr11:19140000-19143000	Weak transcription	Hela-S3	cervix
46	chr11:19140000-19143000	Weak transcription	NHDF-Ad	bronchial
47	chr11:19140000-19143800	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr11:19140000-19146800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:19140000-19147000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:19140000-19148600	Weak transcription	Brain Anterior Caudate	brain

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