Variant report

Variant	rs557257402
Chromosome Location	chr11:8706746-8706747
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:66)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:66 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:8702898-8711816	GM12891	blood:	n/a	n/a
2	POLR2A	chr11:8702842-8711846	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr11:8706091-8706777	GM12892	blood:	n/a	n/a
4	POLR2A	chr11:8706135-8706794	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr11:8706507-8707223	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:8706202-8707850	GM12891	blood:	n/a	n/a
7	POLR2A	chr11:8706441-8707805	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr11:8706479-8707278	HCT-116	colon:	n/a	n/a
9	POLR2A	chr11:8706172-8706811	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr11:8703029-8707716	GM12891	blood:	n/a	n/a
11	POLR2A	chr11:8702826-8712230	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr11:8706626-8706849	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr11:8706518-8707147	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr11:8703065-8711665	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:8703285-8707865	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr11:8703054-8722039	HepG2	liver:	n/a	n/a
17	POLR2A	chr11:8702980-8720607	MCF10A-Er-Src	breast:	n/a	n/a
18	WRNIP1	chr11:8705594-8706798	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:8700198-8712489	PANC-1	pancreas:	n/a	n/a
20	POLR2A	chr11:8703192-8707103	GM18505	blood:	n/a	n/a
21	POLR2A	chr11:8703029-8712154	K562	blood:	n/a	n/a
22	POLR2A	chr11:8705625-8707210	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:8700848-8711808	HepG2	liver:	n/a	n/a
24	POLR2A	chr11:8706460-8711304	GM12891	blood:	n/a	n/a
25	POLR2A	chr11:8702968-8706943	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr11:8706525-8707986	HepG2	liver:	n/a	n/a
27	POLR2A	chr11:8706411-8711893	K562	blood:	n/a	n/a
28	POLR2A	chr11:8706483-8711750	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr11:8702994-8711864	GM12892	blood:	n/a	n/a
30	POLR2A	chr11:8706483-8707450	K562	blood:	n/a	n/a
31	CUX1	chr11:8706587-8706782	K562	blood:	n/a	n/a
32	POLR2A	chr11:8706737-8707061	HCT-116	colon:	n/a	n/a
33	POLR2A	chr11:8706453-8707305	HL-60	blood:	n/a	n/a
34	POLR2A	chr11:8703232-8707460	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr11:8705414-8707577	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr11:8706371-8707330	U87	brain:	n/a	n/a
37	POLR2A	chr11:8706474-8707580	K562	blood:	n/a	n/a
38	ARID3A	chr11:8706535-8706997	K562	blood:	n/a	n/a
39	POLR2A	chr11:8703054-8712257	K562	blood:	n/a	n/a
40	POLR2A	chr11:8706423-8707341	HUVEC	blood vessel:	n/a	n/a
41	HEY1	chr11:8706619-8710923	HepG2	liver:	n/a	n/a
42	HEY1	chr11:8706469-8707098	HepG2	liver:	n/a	n/a
43	POLR2A	chr11:8703012-8711042	PFSK-1	brain:	n/a	n/a
44	POLR2A	chr11:8702942-8711199	GM12892	blood:	n/a	n/a
45	POLR2A	chr11:8703025-8711602	HepG2	liver:	n/a	n/a
46	POLR2A	chr11:8703209-8716167	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr11:8702918-8712569	GM12878	blood:	n/a	n/a
48	POLR2A	chr11:8703187-8707886	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr11:8703068-8711848	K562	blood:	n/a	n/a
50	POLR2A	chr11:8701867-8711080	SK-N-MC	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8706214..8708044-chr11:8804494..8806612,2	MCF-7	breast:
2	chr11:8705138..8707621-chr11:8984474..8986069,2	K562	blood:

No data

Variant related genes	Relation type
RPL27A	TF binding region
SNORA45	TF binding region
ENSG00000175348	Chromatin interaction
ENSG00000255159	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv975880	chr11:8705923-8707423	Genic enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 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	chr11:8703800-8706800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr11:8704000-8706800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
3	chr11:8704400-8707000	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr11:8704400-8707200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
5	chr11:8704600-8707600	Transcr. at gene 5' and 3'	A549	lung
6	chr11:8704800-8707200	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
7	chr11:8704800-8707200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
8	chr11:8704800-8707200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
9	chr11:8704800-8707200	Transcr. at gene 5' and 3'	NHEK	skin
10	chr11:8704800-8707800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:8704800-8709200	Transcr. at gene 5' and 3'	K562	blood
12	chr11:8705000-8706800	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
13	chr11:8705000-8706800	Transcr. at gene 5' and 3'	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:8705000-8707000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:8705000-8707000	Transcr. at gene 5' and 3'	NHLF	lung
16	chr11:8705000-8707200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:8705000-8707400	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
18	chr11:8705000-8707400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
19	chr11:8705000-8707400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
20	chr11:8705000-8707400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:8705000-8707400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:8705000-8707600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:8705400-8706800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
24	chr11:8705400-8706800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
25	chr11:8705400-8707000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:8705400-8707000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:8705400-8709800	Weak transcription	Aorta	Aorta
28	chr11:8705600-8706800	Genic enhancers	Primary B cells from cord blood	blood
29	chr11:8705600-8706800	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
30	chr11:8705600-8707000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:8705600-8707000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:8705600-8707000	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
33	chr11:8705600-8707000	Transcr. at gene 5' and 3'	HMEC	breast
34	chr11:8705600-8707000	Transcr. at gene 5' and 3'	HUVEC	blood vessel
35	chr11:8705600-8707000	Transcr. at gene 5' and 3'	Osteobl	bone
36	chr11:8705600-8707200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:8705600-8707200	Transcr. at gene 5' and 3'	HSMM	muscle
38	chr11:8705600-8707400	Transcr. at gene 5' and 3'	NH-A	brain
39	chr11:8705600-8708000	Genic enhancers	Thymus	Thymus
40	chr11:8705600-8709000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
41	chr11:8705800-8706800	Genic enhancers	Primary B cells from peripheral blood	blood
42	chr11:8705800-8706800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr11:8705800-8707200	Genic enhancers	Primary T cells fromperipheralblood	blood
44	chr11:8705800-8707200	Genic enhancers	Placenta Amnion	Placenta Amnion
45	chr11:8705800-8707600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:8705800-8707600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
47	chr11:8705800-8709200	Transcr. at gene 5' and 3'	Hela-S3	cervix
48	chr11:8706000-8706800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr11:8706000-8706800	Genic enhancers	Brain Angular Gyrus	brain
50	chr11:8706000-8706800	Genic enhancers	Gastric	stomach

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