Variant report

Variant	rs529353830
Chromosome Location	chr11:47194545-47194546
allele	G/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	chr11:47194046-47194723	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:47194276-47194822	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr11:47192694-47195552	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:47193736-47195529	K562	blood:	n/a	n/a
5	POLR2A	chr11:47193678-47195914	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:47192191-47195978	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:47194315-47195140	K562	blood:	n/a	n/a
8	POLR2A	chr11:47194416-47194616	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:47194376-47195042	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:
2	chr11:47194502..47201735-chr11:47289181..47294156,14	K562	blood:

Variant related genes	Relation type
ENSG00000270060	TF binding region
ARFGAP2	TF binding region
ENSG00000025434	Chromatin interaction
ENSG00000256746	Chromatin interaction
ENSG00000110514	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	chr11:47178800-47196800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:47180600-47196600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:47181400-47197000	Weak transcription	Right Atrium	heart
8	chr11:47182000-47196400	Strong transcription	Hela-S3	cervix
9	chr11:47182200-47194800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:47182200-47197000	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr11:47182400-47196400	Strong transcription	Fetal Intestine Large	intestine
12	chr11:47183200-47197000	Strong transcription	Placenta	Placenta
13	chr11:47183200-47197200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:47183400-47194600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:47183400-47194600	Strong transcription	Colonic Mucosa	Colon
16	chr11:47183400-47196600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:47183400-47197000	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr11:47183400-47197000	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr11:47183400-47197000	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr11:47183600-47196400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:47183600-47196600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:47183600-47197000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:47183600-47197000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr11:47183800-47196800	Strong transcription	NHLF	lung
25	chr11:47184000-47196800	Strong transcription	Duodenum Mucosa	Duodenum
26	chr11:47184200-47196000	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr11:47184400-47196400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr11:47184400-47197000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:47184600-47196400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:47184600-47196600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr11:47184800-47195200	Strong transcription	Primary B cells from cord blood	blood
32	chr11:47184800-47196600	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr11:47184800-47197000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:47185000-47195600	Strong transcription	Placenta Amnion	Placenta Amnion
35	chr11:47185200-47195600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:47185200-47196600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:47185400-47195600	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr11:47185400-47196800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:47185400-47197000	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr11:47185400-47197200	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr11:47185600-47194600	Strong transcription	HepG2	liver
42	chr11:47185600-47196600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:47185600-47197000	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr11:47185600-47197000	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr11:47185600-47197000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr11:47185600-47197000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:47185600-47197000	Strong transcription	HSMM	muscle
48	chr11:47185600-47197000	Strong transcription	Osteobl	bone
49	chr11:47185800-47195600	Strong transcription	A549	lung
50	chr11:47185800-47196800	Strong transcription	NHEK	skin

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