Variant report

Variant	rs368953478
Chromosome Location	chr11:47193897-47193898
allele	C/T
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	chr11:47193785-47194162	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:47192905-47194068	K562	blood:	n/a	n/a
3	POLR2A	chr11:47192694-47195552	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:47193866-47193901	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:47193736-47195529	K562	blood:	n/a	n/a
6	POLR2A	chr11:47193678-47195914	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:47193681-47194230	GM12891	blood:	n/a	n/a
8	POLR2A	chr11:47192191-47195978	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:47193273-47194344	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:47193718-47194115	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr11:47193891-47194103	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47193875..47196458-chr11:47267923..47269877,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270060	TF binding region
ARFGAP2	TF binding region
ENSG00000025434	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv897324	chr11:47193566-47212032	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 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	chr11:47175400-47197600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:47176000-47196600	Strong transcription	Fetal Intestine Small	intestine
3	chr11:47176800-47196600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:47178000-47197000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:47178200-47194000	Strong transcription	Dnd41	blood
6	chr11:47178800-47196800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:47180600-47196600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr11:47181400-47197000	Weak transcription	Right Atrium	heart
9	chr11:47182000-47196400	Strong transcription	Hela-S3	cervix
10	chr11:47182200-47194800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:47182200-47197000	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr11:47182400-47196400	Strong transcription	Fetal Intestine Large	intestine
13	chr11:47183200-47194000	Strong transcription	Primary B cells from peripheral blood	blood
14	chr11:47183200-47197000	Strong transcription	Placenta	Placenta
15	chr11:47183200-47197200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:47183400-47194600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:47183400-47194600	Strong transcription	Colonic Mucosa	Colon
18	chr11:47183400-47196600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:47183400-47197000	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr11:47183400-47197000	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr11:47183400-47197000	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr11:47183600-47194200	Strong transcription	Fetal Thymus	thymus
23	chr11:47183600-47196400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:47183600-47196600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:47183600-47197000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:47183600-47197000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr11:47183800-47196800	Strong transcription	NHLF	lung
28	chr11:47184000-47194000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:47184000-47196800	Strong transcription	Duodenum Mucosa	Duodenum
30	chr11:47184200-47196000	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr11:47184400-47194000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr11:47184400-47194400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:47184400-47196400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr11:47184400-47197000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:47184600-47194000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:47184600-47196400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:47184600-47196600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:47184800-47195200	Strong transcription	Primary B cells from cord blood	blood
39	chr11:47184800-47196600	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr11:47184800-47197000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr11:47185000-47195600	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr11:47185200-47195600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:47185200-47196600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:47185400-47195600	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr11:47185400-47196800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:47185400-47197000	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr11:47185400-47197200	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr11:47185600-47194000	Strong transcription	Left Ventricle	heart
49	chr11:47185600-47194400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:47185600-47194400	Strong transcription	Ovary	ovary

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