Variant report

Variant	rs12222160
Chromosome Location	chr11:19223779-19223780
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr11:19223729-19223929	MCF10A-Er-Src	breast:	n/a	chr11:19223894-19223903 chr11:19223893-19223902
2	STAT3	chr11:19223757-19223829	MCF10A-Er-Src	breast:	n/a	n/a
3	MEF2A	chr11:19223474-19223793	K562	blood:	n/a	chr11:19223659-19223674 chr11:19223655-19223676 chr11:19223660-19223674
4	MEF2A	chr11:19223488-19223909	SK-N-SH	brain:	n/a	chr11:19223659-19223674 chr11:19223655-19223676 chr11:19223660-19223674

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:19223739-19223789	SKMC	muscle:	n/a
2	chr11:19223739-19223789	GM12892	blood:	n/a
3	chr11:19223739-19223789	AoSMC	blood vessel:	n/a
4	chr11:19223739-19223789	HIPEpiC	eye:	n/a
5	chr11:19223739-19223789	SK-N-SH_RA	brain:	n/a
6	chr11:19223739-19223789	AG09309	skin:	n/a
7	chr11:19223739-19223789	GM19239	blood:	n/a
8	chr11:19223739-19223789	HUVEC	blood vessel:	n/a
9	chr11:19223739-19223789	BJ	skin:	n/a
10	chr11:19223739-19223789	HCPEpiC	choroid plexus:	n/a
11	chr11:19223739-19223789	NHDF-neo	bronchial:	n/a
12	chr11:19223739-19223789	ProgFib	skin:	n/a
13	chr11:19223739-19223789	IMR90	lung:	fetal
14	chr11:19223739-19223789	U87	brain:	n/a
15	chr11:19223739-19223789	HNPCEpiC	eye:	n/a
16	chr11:19223739-19223789	HRPEpiC	eye:	n/a
17	chr11:19223739-19223789	AG04450	lung:	fetal
18	chr11:19223739-19223789	HRE	kidney:	n/a
19	chr11:19223739-19223789	SK-N-MC	brain:	n/a
20	chr11:19223739-19223789	NT2-D1	testis:	n/a
21	chr11:19223739-19223789	CMK	blood:	n/a
22	chr11:19223739-19223789	GM12878	blood:	n/a
23	chr11:19223739-19223789	GM12891	blood:	n/a
24	chr11:19223739-19223789	HMEC	breast:	n/a
25	chr11:19223739-19223789	HPAEpiC	pulmonary alveolar:	n/a
26	chr11:19223739-19223789	AG10803	skin:	n/a
27	chr11:19223739-19223789	AG09319	gingival:	n/a
28	chr11:19223739-19223789	K562	blood:	n/a
29	chr11:19223739-19223789	Jurkat	blood:	n/a
30	chr11:19223739-19223789	A549	lung:	n/a
31	chr11:19223739-19223789	GM06990	blood:	n/a
32	chr11:19223739-19223789	H1-hESC	embryonic stem cell:	embryo
33	chr11:19223739-19223789	HepG2	liver:	n/a
34	chr11:19223739-19223789	MCF-7	breast:	n/a
35	chr11:19223739-19223789	HCM	heart:	n/a
36	chr11:19223739-19223789	RPTEC	kidney:	n/a
37	chr11:19223739-19223789	SAEC	small airway:	n/a
38	chr11:19223739-19223789	Hela-S3	cervix:	n/a
39	chr11:19223739-19223789	HL-60	blood:	n/a
40	chr11:19223739-19223789	BE2_C	brain:	n/a
41	chr11:19223739-19223789	PANC-1	pancreas:	n/a
42	chr11:19223739-19223789	PrEC	prostate:	n/a
43	chr11:19223739-19223789	Hepatocyte	liver:	n/a
44	chr11:19223739-19223789	ovcar-3	ovarian:	n/a
45	chr11:19223739-19223789	SK-N-SH	brain:	n/a
46	chr11:19223739-19223789	AG04449	skin:	fetal
47	chr11:19223739-19223789	Caco-2	colon:	n/a
48	chr11:19223739-19223789	T-47D	breast:	n/a
49	chr11:19223739-19223789	HAEpiC	amniotic membrane:	n/a
50	chr11:19223739-19223789	ECC-1	luminal epithelium:	n/a

No data

Variant related genes	Relation type
CSRP3	TF binding region
CSRP3	CpG island

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10741762	1.00[ASN][1000 genomes]
rs11025056	1.00[ASN][1000 genomes]
rs12273001	0.81[ASN][1000 genomes]
rs12276811	1.00[ASN][1000 genomes]
rs12792654	0.92[ASN][1000 genomes]
rs1346117	1.00[ASN][1000 genomes]
rs1648233	1.00[ASN][1000 genomes]
rs7936229	0.81[ASN][1000 genomes]

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	nsv1040805	chr11:19037871-19892803	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv540957	chr11:19037871-19892803	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:19219800-19224200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr11:19220800-19226000	Weak transcription	Small Intestine	intestine
3	chr11:19221400-19223800	Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr11:19221400-19224000	Enhancers	NH-A	brain
5	chr11:19221800-19224000	Enhancers	Hela-S3	cervix
6	chr11:19222000-19224000	Enhancers	NHDF-Ad	bronchial
7	chr11:19222400-19224200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:19222600-19223800	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr11:19222600-19224000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:19222600-19224200	Enhancers	HSMM	muscle
11	chr11:19222600-19224600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:19222600-19231000	Weak transcription	Gastric	stomach
13	chr11:19223200-19223800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:19223400-19223800	Enhancers	Osteobl	bone
15	chr11:19223400-19224000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:19223400-19224000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:19223600-19223800	Weak transcription	Fetal Heart	heart
18	chr11:19223600-19223800	Enhancers	Fetal Lung	lung
19	chr11:19223600-19223800	Flanking Active TSS	HSMMtube	muscle
20	chr11:19223600-19224000	Enhancers	Fetal Muscle Leg	muscle
21	chr11:19223600-19230600	Weak transcription	Psoas Muscle	Psoas

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