Variant report

Variant	rs2508584
Chromosome Location	chr11:63757446-63757447
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	chr11:63754118..63755795-chr11:63756006..63757666,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167770	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10751004	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10792424	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10897464	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10897466	0.89[EUR][1000 genomes]
rs10897468	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11231646	0.85[AMR][1000 genomes]
rs11231653	0.88[EUR][1000 genomes]
rs11601228	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11607028	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12790749	0.92[EUR][1000 genomes]
rs12798491	0.88[EUR][1000 genomes]
rs12808604	0.93[EUR][1000 genomes]
rs1386346	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1684950	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1783964	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2318110	0.83[AMR][1000 genomes]
rs3019782	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs320121	0.92[EUR][1000 genomes]
rs320156	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35492216	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3740636	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4426138	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs481835	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs483340	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs487540	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs488082	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4980509	0.81[AMR][1000 genomes]
rs4980512	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4980516	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs499118	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs500493	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs502858	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs504314	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs528927	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs529915	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs539432	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs553724	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs562865	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs567386	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs578295	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6591830	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs709594	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs728919	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7928990	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7938498	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7942318	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7951529	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9943682	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
7	nsv897639	chr11:63691049-63844683	Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	esv1849906	chr11:63719273-63880383	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv1042075	chr11:63732454-63813164	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	esv29993	chr11:63738642-63864211	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv897640	chr11:63744152-63835611	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv897641	chr11:63744152-63844683	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv897642	chr11:63744152-63866959	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
14	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
15	nsv897643	chr11:63754986-63844683	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
16	nsv897644	chr11:63754986-63849330	Bivalent Enhancer Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
17	nsv897645	chr11:63754986-63859751	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
18	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
19	nsv897647	chr11:63755961-63835611	Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63754600-63758600	Weak transcription	Aorta	Aorta
2	chr11:63754800-63757600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:63754800-63767600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:63755000-63766600	Weak transcription	Right Atrium	heart
5	chr11:63755000-63769000	Weak transcription	Fetal Kidney	kidney
6	chr11:63755200-63757600	Weak transcription	Left Ventricle	heart
7	chr11:63755200-63757600	Weak transcription	HSMMtube	muscle
8	chr11:63755200-63757800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr11:63755200-63761200	Weak transcription	HUVEC	blood vessel
10	chr11:63755200-63762000	Weak transcription	Small Intestine	intestine
11	chr11:63755200-63766600	Weak transcription	Stomach Mucosa	stomach
12	chr11:63755200-63775200	Weak transcription	Psoas Muscle	Psoas
13	chr11:63755400-63757600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr11:63755400-63757600	Weak transcription	Colon Smooth Muscle	Colon
15	chr11:63755400-63757600	Weak transcription	Pancreas	Pancrea
16	chr11:63755400-63757600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:63755400-63757600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr11:63755400-63757600	Weak transcription	NH-A	brain
19	chr11:63755400-63758000	Weak transcription	HSMM	muscle
20	chr11:63755400-63758400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:63755400-63758400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr11:63755400-63758400	Weak transcription	NHDF-Ad	bronchial
23	chr11:63755400-63758600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr11:63755400-63759000	Weak transcription	Colonic Mucosa	Colon
25	chr11:63755400-63759400	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr11:63755400-63759600	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:63755400-63759600	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr11:63755400-63760400	Weak transcription	Brain Angular Gyrus	brain
29	chr11:63755400-63762400	Weak transcription	Brain Substantia Nigra	brain
30	chr11:63755400-63765400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr11:63755400-63765400	Strong transcription	Fetal Stomach	stomach
32	chr11:63755400-63765600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:63755400-63766200	Strong transcription	Fetal Muscle Leg	muscle
34	chr11:63755400-63766200	Strong transcription	Fetal Thymus	thymus
35	chr11:63755400-63766400	Strong transcription	NHLF	lung
36	chr11:63755400-63766600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:63755600-63757600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:63755600-63757600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:63755600-63758600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:63755600-63759200	Strong transcription	Adipose Nuclei	Adipose
41	chr11:63755600-63759600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:63755600-63759800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:63755600-63764800	Weak transcription	Fetal Brain Male	brain
44	chr11:63755600-63765800	Strong transcription	NHEK	skin
45	chr11:63755600-63766000	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr11:63755600-63766400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:63755800-63757600	Weak transcription	Primary B cells from cord blood	blood
48	chr11:63755800-63757600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr11:63755800-63759400	Strong transcription	Primary B cells from peripheral blood	blood
50	chr11:63755800-63759400	Strong transcription	Brain Inferior Temporal Lobe	brain

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