Variant report

Variant	rs11828131
Chromosome Location	chr11:64954803-64954804
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64946681-64957644	K562	blood:	n/a	n/a
2	GATA3	chr11:64954711-64955175	MCF-7	breast:	n/a	chr11:64954891-64954898 chr11:64954890-64954898 chr11:64954891-64954900
3	POLR2A	chr11:64954634-64955026	K562	blood:	n/a	n/a
4	GATA3	chr11:64954734-64955083	MCF-7	breast:	n/a	chr11:64954891-64954898 chr11:64954890-64954898 chr11:64954891-64954900
5	GATA3	chr11:64954496-64955078	MCF-7	breast:	n/a	chr11:64954891-64954898 chr11:64954630-64954637 chr11:64954890-64954898 chr11:64954891-64954900 chr11:64954630-64954642

No.	Distal block	Cell Line	Cell type
1	chr11:64877702..64891058-chr11:64944203..64957091,32	K562	blood:
2	chr11:64852718..64854358-chr11:64953563..64956408,2	MCF-7	breast:
3	chr11:64899984..64902140-chr11:64953523..64955030,2	MCF-7	breast:
4	chr11:64780421..64782168-chr11:64953277..64956161,2	MCF-7	breast:
5	chr11:64877522..64908330-chr11:64931619..64960265,171	MCF-7	breast:
6	chr11:64888312..64893387-chr11:64951706..64955535,4	K562	blood:
7	chr11:64953862..64955424-chr11:64955470..64957493,2	MCF-7	breast:

Variant related genes	Relation type
CAPN1	TF binding region
ENSG00000174276	Chromatin interaction
ENSG00000162298	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000149806	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000149792	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000213465	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11819994	1.00[EUR][1000 genomes]
rs11825104	1.00[EUR][1000 genomes]
rs11826724	1.00[EUR][1000 genomes]
rs17145206	1.00[EUR][1000 genomes]
rs17146681	1.00[EUR][1000 genomes]
rs17880328	1.00[AMR][1000 genomes]
rs17880419	0.85[AMR][1000 genomes]
rs17881194	0.85[AMR][1000 genomes]
rs17882241	1.00[EUR][1000 genomes]
rs17883601	1.00[EUR][1000 genomes]
rs17884528	1.00[EUR][1000 genomes]
rs17885792	1.00[EUR][1000 genomes]
rs17886339	1.00[EUR][1000 genomes]
rs56815630	1.00[AMR][1000 genomes]
rs57292990	1.00[EUR][1000 genomes]
rs57895567	1.00[EUR][1000 genomes]
rs58306239	1.00[EUR][1000 genomes]
rs58874511	1.00[AMR][1000 genomes]
rs59600966	1.00[AMR][1000 genomes]
rs60034183	1.00[EUR][1000 genomes]
rs60169759	1.00[EUR][1000 genomes]
rs60568743	1.00[EUR][1000 genomes]
rs61136517	1.00[EUR][1000 genomes]
rs61202604	1.00[EUR][1000 genomes]
rs61231480	1.00[EUR][1000 genomes]
rs7102692	0.85[AMR][1000 genomes]
rs73477004	1.00[EUR][1000 genomes]
rs73477025	1.00[EUR][1000 genomes]
rs73477027	1.00[EUR][1000 genomes]
rs73477209	1.00[EUR][1000 genomes]
rs73477214	1.00[EUR][1000 genomes]
rs73477223	1.00[EUR][1000 genomes]
rs73477224	1.00[EUR][1000 genomes]
rs73477233	1.00[EUR][1000 genomes]
rs73479135	1.00[EUR][1000 genomes]
rs73480916	1.00[EUR][1000 genomes]
rs73480917	1.00[EUR][1000 genomes]
rs73480936	1.00[EUR][1000 genomes]
rs73480948	1.00[EUR][1000 genomes]
rs73495050	1.00[EUR][1000 genomes]
rs73495054	1.00[EUR][1000 genomes]
rs73495060	1.00[EUR][1000 genomes]
rs769438	1.00[EUR][1000 genomes]
rs769439	1.00[EUR][1000 genomes]
rs7933743	1.00[AMR][1000 genomes]
rs7942977	0.85[AMR][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	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897713	chr11:64915042-65000719	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64950400-64955400	Weak transcription	Small Intestine	intestine
2	chr11:64950400-64956200	Weak transcription	Brain Substantia Nigra	brain
3	chr11:64950400-64973200	Weak transcription	Fetal Kidney	kidney
4	chr11:64950600-64957200	Weak transcription	Psoas Muscle	Psoas
5	chr11:64950600-64992400	Weak transcription	Right Atrium	heart
6	chr11:64950800-64956000	Weak transcription	HSMM	muscle
7	chr11:64951000-64955600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr11:64951000-64956200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr11:64951000-64956800	Weak transcription	NH-A	brain
10	chr11:64951000-64959000	Strong transcription	Thymus	Thymus
11	chr11:64951000-64959200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr11:64951000-64973600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:64951000-64976200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:64951200-64958400	Strong transcription	NHLF	lung
15	chr11:64951200-64958800	Strong transcription	Skeletal Muscle Male	skeletal muscle
16	chr11:64951200-64959800	Strong transcription	Primary T cells from cord blood	blood
17	chr11:64951200-64961800	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr11:64951200-64962800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:64951200-64963000	Strong transcription	Liver	Liver
20	chr11:64951200-64963000	Strong transcription	Fetal Stomach	stomach
21	chr11:64951200-64963200	Strong transcription	Fetal Muscle Trunk	muscle
22	chr11:64951200-64963600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:64951200-64968400	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr11:64951200-64976200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:64951400-64955000	Strong transcription	NHDF-Ad	bronchial
26	chr11:64951400-64957200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:64951400-64957200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr11:64951400-64958800	Strong transcription	Stomach Smooth Muscle	stomach
29	chr11:64951400-64959200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr11:64951400-64960000	Strong transcription	Adipose Nuclei	Adipose
31	chr11:64951400-64963400	Strong transcription	Fetal Muscle Leg	muscle
32	chr11:64951400-64968000	Strong transcription	Primary B cells from peripheral blood	blood
33	chr11:64951400-64979200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:64951600-64976400	Weak transcription	Fetal Brain Male	brain
35	chr11:64951600-64979600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:64951800-64958200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:64951800-64958200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:64951800-64958400	Strong transcription	Lung	lung
39	chr11:64951800-64958400	Strong transcription	Spleen	Spleen
40	chr11:64951800-64958600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:64951800-64958800	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:64951800-64959000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:64951800-64963200	Strong transcription	Fetal Intestine Large	intestine
44	chr11:64951800-64968800	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr11:64951800-64969000	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr11:64952000-64958600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:64952000-64962200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:64952200-64960000	Strong transcription	Primary B cells from cord blood	blood
49	chr11:64952200-64960000	Strong transcription	Duodenum Mucosa	Duodenum
50	chr11:64952200-64960200	Strong transcription	Fetal Thymus	thymus

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