Variant report

Variant	rs190250992
Chromosome Location	chr11:64807636-64807637
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64807448-64807811	HepG2	liver:	n/a	n/a
2	HCFC1	chr11:64807321-64809595	Hela-S3	cervix:	n/a	n/a

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64806669..64810557-chr11:64862016..64868359,8	K562	blood:
2	chr11:64793282..64795774-chr11:64807101..64811680,5	K562	blood:
3	chr11:64793697..64796700-chr11:64806482..64812345,9	MCF-7	breast:
4	chr11:64780179..64786029-chr11:64807067..64810211,7	MCF-7	breast:
5	chr11:64787088..64789367-chr11:64807052..64810027,2	MCF-7	breast:
6	chr11:64807090..64809871-chr11:64850334..64853304,4	MCF-7	breast:
7	chr11:64780338..64782626-chr11:64806994..64809935,3	K562	blood:
8	chr11:64545248..64547245-chr11:64807000..64808581,2	MCF-7	breast:
9	chr11:64798286..64800870-chr11:64805869..64808336,2	K562	blood:
10	chr11:64807050..64811411-chr11:64876533..64881108,6	MCF-7	breast:
11	chr11:64644663..64647408-chr11:64807363..64809566,4	MCF-7	breast:
12	chr11:64806537..64808623-chr11:64852176..64854982,2	K562	blood:
13	chr11:64645854..64647856-chr11:64806233..64808621,2	K562	blood:
14	chr11:64807534..64810713-chr11:64846257..64849828,3	MCF-7	breast:
15	chr11:64806772..64810496-chr11:64862454..64866792,5	K562	blood:
16	chr11:64806463..64808805-chr11:64815100..64817067,2	K562	blood:
17	chr11:64806835..64808889-chr11:64875130..64876967,2	K562	blood:
18	chr11:64806821..64808860-chr11:64936413..64939146,2	K562	blood:
19	chr11:64793793..64795353-chr11:64806843..64809654,4	MCF-7	breast:
20	chr11:64793389..64797015-chr11:64806765..64809007,6	K562	blood:
21	chr11:64805658..64811611-chr11:64862545..64865451,9	MCF-7	breast:
22	chr11:64692132..64694352-chr11:64806387..64808974,2	K562	blood:
23	chr11:64804480..64810811-chr11:64850224..64856247,12	K562	blood:
24	chr11:64806998..64808499-chr11:64948414..64950755,2	MCF-7	breast:
25	chr11:64806922..64809393-chr11:64883452..64886674,3	MCF-7	breast:
26	chr11:64807098..64808802-chr11:64850233..64851800,2	K562	blood:
27	chr11:64806644..64812839-chr11:64862132..64865938,9	MCF-7	breast:
28	chr11:64807549..64809979-chr11:64878035..64880006,2	K562	blood:

No data

Variant related genes	Relation type
SAC3D1	TF binding region
ENSG00000270775	Chromatin interaction
ENSG00000146670	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000254614	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000110025	Chromatin interaction
ENSG00000168060	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000204710	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000014216	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv897709	chr11:64772545-64870779	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv897710	chr11:64772545-64885445	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
5	esv3324692	chr11:64806676-64811174	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64795200-64808000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:64795400-64808000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:64795600-64808000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:64795800-64807800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr11:64795800-64807800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr11:64795800-64808000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:64795800-64808000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:64796000-64807800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:64796000-64807800	Weak transcription	Fetal Kidney	kidney
10	chr11:64796000-64808000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr11:64796200-64807800	Weak transcription	Small Intestine	intestine
12	chr11:64796200-64807800	Weak transcription	A549	lung
13	chr11:64796200-64807800	Weak transcription	HMEC	breast
14	chr11:64796200-64807800	Weak transcription	HUVEC	blood vessel
15	chr11:64796200-64807800	Weak transcription	NHEK	skin
16	chr11:64796200-64808000	Weak transcription	Osteobl	bone
17	chr11:64796400-64807800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr11:64796800-64808000	Strong transcription	Fetal Stomach	stomach
19	chr11:64798400-64807800	Strong transcription	Fetal Intestine Large	intestine
20	chr11:64798400-64807800	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:64798600-64807800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:64800400-64808000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:64803600-64807800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr11:64806000-64807800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr11:64806200-64807800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr11:64806200-64807800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr11:64806200-64807800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:64806200-64808000	Enhancers	Primary B cells from cord blood	blood
29	chr11:64806200-64808000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:64806200-64808000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr11:64806400-64807800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:64806400-64807800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:64806400-64807800	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr11:64806400-64807800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr11:64806400-64807800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr11:64806400-64807800	Weak transcription	Colonic Mucosa	Colon
37	chr11:64806400-64807800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr11:64806400-64807800	Weak transcription	Fetal Lung	lung
39	chr11:64806400-64807800	Weak transcription	Placenta	Placenta
40	chr11:64806400-64807800	Enhancers	GM12878-XiMat	blood
41	chr11:64806400-64807800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr11:64806400-64808000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:64806400-64808000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:64806400-64808000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:64806400-64808000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:64806400-64808000	Weak transcription	Esophagus	oesophagus
47	chr11:64806400-64808000	Weak transcription	Left Ventricle	heart
48	chr11:64806400-64808000	Weak transcription	Ovary	ovary
49	chr11:64806400-64808000	Weak transcription	Pancreas	Pancrea
50	chr11:64806400-64808000	Weak transcription	Psoas Muscle	Psoas

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