Variant report

Variant	rs577954281
Chromosome Location	chr11:47194076-47194077
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

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	chr11:47194046-47194723	GM12878	blood:	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	chr11:47193681-47194230	GM12891	blood:	n/a	n/a
7	POLR2A	chr11:47192191-47195978	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr11:47193273-47194344	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:47193718-47194115	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr11:47193891-47194103	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:47194031-47194081	HIPEpiC	eye:	n/a
2	chr11:47194031-47194081	HPAEpiC	pulmonary alveolar:	n/a
3	chr11:47194031-47194081	IMR90	lung:	fetal
4	chr11:47194031-47194081	LNCaP	prostate:	n/a
5	chr11:47194031-47194081	HCT-116	colon:	n/a
6	chr11:47194031-47194081	HCPEpiC	choroid plexus:	n/a
7	chr11:47194031-47194081	HEK293	kidney:	embryo
8	chr11:47194031-47194081	AG09309	skin:	n/a
9	chr11:47194031-47194081	H1-hESC	embryonic stem cell:	embryo
10	chr11:47194031-47194081	RPTEC	kidney:	n/a
11	chr11:47194031-47194081	HRPEpiC	eye:	n/a
12	chr11:47194031-47194081	U87	brain:	n/a
13	chr11:47194031-47194081	BJ	skin:	n/a
14	chr11:47194031-47194081	BE2_C	brain:	n/a
15	chr11:47194031-47194081	HUVEC	blood vessel:	n/a
16	chr11:47194031-47194081	HRCEpiC	kidney:	n/a
17	chr11:47194031-47194081	MCF-7	breast:	n/a
18	chr11:47194031-47194081	NHDF-neo	bronchial:	n/a
19	chr11:47194031-47194081	A549	lung:	n/a
20	chr11:47194031-47194081	GM12892	blood:	n/a
21	chr11:47194031-47194081	PANC-1	pancreas:	n/a
22	chr11:47194031-47194081	ProgFib	skin:	n/a
23	chr11:47194031-47194081	AG10803	skin:	n/a
24	chr11:47194031-47194081	MCF10A-Er-Src	breast:	n/a
25	chr11:47194031-47194081	GM12878	blood:	n/a
26	chr11:47194031-47194081	SK-N-SH_RA	brain:	n/a
27	chr11:47194031-47194081	AG09319	gingival:	n/a
28	chr11:47194031-47194081	Caco-2	colon:	n/a
29	chr11:47194031-47194081	ovcar-3	ovarian:	n/a
30	chr11:47194031-47194081	PFSK-1	brain:	n/a
31	chr11:47194031-47194081	HRE	kidney:	n/a
32	chr11:47194031-47194081	T-47D	breast:	n/a
33	chr11:47194031-47194081	NT2-D1	testis:	n/a
34	chr11:47194031-47194081	HAEpiC	amniotic membrane:	n/a
35	chr11:47194031-47194081	HNPCEpiC	eye:	n/a
36	chr11:47194031-47194081	SK-N-SH	brain:	n/a
37	chr11:47194031-47194081	GM12891	blood:	n/a
38	chr11:47194031-47194081	HMEC	breast:	n/a
39	chr11:47194031-47194081	HEEpiC	esophagus:	n/a
40	chr11:47194031-47194081	CMK	blood:	n/a
41	chr11:47194031-47194081	SAEC	small airway:	n/a
42	chr11:47194031-47194081	AG04450	lung:	fetal
43	chr11:47194031-47194081	Jurkat	blood:	n/a
44	chr11:47194031-47194081	PrEC	prostate:	n/a
45	chr11:47194031-47194081	HCM	heart:	n/a
46	chr11:47194031-47194081	HepG2	liver:	n/a
47	chr11:47194031-47194081	SK-N-MC	brain:	n/a
48	chr11:47194031-47194081	NB4	blood:	n/a
49	chr11:47194031-47194081	ECC-1	luminal epithelium:	n/a
50	chr11:47194031-47194081	NHBE	bronchial:	n/a

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

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

No data

Variant related genes	Relation type
ARFGAP2	TF binding region
ENSG00000270060	TF binding region
ARFGAP2	CpG island
ENSG00000270060	CpG island
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	chr11:47178800-47196800	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	chr11:47183600-47194200	Strong transcription	Fetal Thymus	thymus
21	chr11:47183600-47196400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:47183600-47196600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:47183600-47197000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:47183600-47197000	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr11:47183800-47196800	Strong transcription	NHLF	lung
26	chr11:47184000-47196800	Strong transcription	Duodenum Mucosa	Duodenum
27	chr11:47184200-47196000	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr11:47184400-47194400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:47184400-47196400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:47184400-47197000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:47184600-47196400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:47184600-47196600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr11:47184800-47195200	Strong transcription	Primary B cells from cord blood	blood
34	chr11:47184800-47196600	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr11:47184800-47197000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr11:47185000-47195600	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr11:47185200-47195600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:47185200-47196600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:47185400-47195600	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr11:47185400-47196800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:47185400-47197000	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr11:47185400-47197200	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:47185600-47194400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr11:47185600-47194400	Strong transcription	Ovary	ovary
45	chr11:47185600-47194600	Strong transcription	HepG2	liver
46	chr11:47185600-47196600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:47185600-47197000	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr11:47185600-47197000	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr11:47185600-47197000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr11:47185600-47197000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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