Variant report

Variant	rs883157
Chromosome Location	chr2:152831229-152831230
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr2:152829480-152831348	SK-N-SH	brain:	n/a	chr2:152830511-152830520

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:152831214-152831264	GM06990	blood:	n/a
2	chr2:152831214-152831264	Caco-2	colon:	n/a
3	chr2:152831214-152831264	AG04449	skin:	fetal
4	chr2:152831214-152831264	HCM	heart:	n/a
5	chr2:152831214-152831264	HRPEpiC	eye:	n/a
6	chr2:152831214-152831264	HCF	heart:	n/a
7	chr2:152831214-152831264	Hepatocyte	liver:	n/a
8	chr2:152831214-152831264	NHDF-neo	bronchial:	n/a
9	chr2:152831214-152831264	PFSK-1	brain:	n/a
10	chr2:152831214-152831264	HCT-116	colon:	n/a
11	chr2:152831214-152831264	A549	lung:	n/a
12	chr2:152831214-152831264	HRCEpiC	kidney:	n/a
13	chr2:152831214-152831264	SAEC	small airway:	n/a
14	chr2:152831214-152831264	HCPEpiC	choroid plexus:	n/a
15	chr2:152831214-152831264	ECC-1	luminal epithelium:	n/a
16	chr2:152831214-152831264	HIPEpiC	eye:	n/a
17	chr2:152831214-152831264	HEK293	kidney:	embryo
18	chr2:152831214-152831264	NT2-D1	testis:	n/a
19	chr2:152831214-152831264	AoSMC	blood vessel:	n/a
20	chr2:152831214-152831264	GM12892	blood:	n/a
21	chr2:152831214-152831264	CMK	blood:	n/a
22	chr2:152831214-152831264	HRE	kidney:	n/a
23	chr2:152831214-152831264	SK-N-SH	brain:	n/a
24	chr2:152831214-152831264	AG09309	skin:	n/a
25	chr2:152831214-152831264	HPAEpiC	pulmonary alveolar:	n/a
26	chr2:152831214-152831264	IMR90	lung:	fetal
27	chr2:152831214-152831264	GM19239	blood:	n/a
28	chr2:152831214-152831264	RPTEC	kidney:	n/a
29	chr2:152831214-152831264	MCF-7	breast:	n/a
30	chr2:152831214-152831264	ovcar-3	ovarian:	n/a
31	chr2:152831214-152831264	LNCaP	prostate:	n/a
32	chr2:152831214-152831264	HL-60	blood:	n/a
33	chr2:152831214-152831264	GM12891	blood:	n/a
34	chr2:152831214-152831264	U87	brain:	n/a
35	chr2:152831214-152831264	T-47D	breast:	n/a
36	chr2:152831214-152831264	HepG2	liver:	n/a
37	chr2:152831214-152831264	Hela-S3	cervix:	n/a
38	chr2:152831214-152831264	PrEC	prostate:	n/a
39	chr2:152831214-152831264	SK-N-SH_RA	brain:	n/a
40	chr2:152831214-152831264	BJ	skin:	n/a
41	chr2:152831214-152831264	NB4	blood:	n/a
42	chr2:152831214-152831264	BE2_C	brain:	n/a
43	chr2:152831214-152831264	NHBE	bronchial:	n/a
44	chr2:152831214-152831264	SKMC	muscle:	n/a
45	chr2:152831214-152831264	H1-hESC	embryonic stem cell:	embryo
46	chr2:152831214-152831264	HNPCEpiC	eye:	n/a
47	chr2:152831214-152831264	HEEpiC	esophagus:	n/a
48	chr2:152831214-152831264	AG04450	lung:	fetal
49	chr2:152831214-152831264	NH-A	brain:	n/a
50	chr2:152831214-152831264	K562	blood:	n/a

No data

Variant related genes	Relation type
CACNB4	TF binding region
CACNB4	CpG island

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10930837	1.00[CEU][hapmap];0.90[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap]
rs12463883	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1356732	1.00[CEU][hapmap];0.90[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap]
rs1474172	1.00[CEU][hapmap];0.90[JPT][hapmap]
rs1519710	1.00[CEU][hapmap];0.90[JPT][hapmap]
rs16830434	1.00[CEU][hapmap]
rs16830435	1.00[CEU][hapmap]
rs16830450	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap]
rs16830539	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3754532	1.00[CEU][hapmap]
rs4496331	1.00[CEU][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes]
rs4563220	1.00[CEU][hapmap];0.81[CHB][hapmap];0.96[CHD][hapmap];0.90[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6730903	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs72621650	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7562260	1.00[CEU][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes]
rs7580901	1.00[CEU][hapmap];0.90[JPT][hapmap]
rs7581344	1.00[CEU][hapmap];0.90[JPT][hapmap]
rs7597915	1.00[CEU][hapmap];0.81[CHB][hapmap];0.96[CHD][hapmap];0.90[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs867544	0.90[JPT][hapmap]
rs883170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs952339	1.00[CEU][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3693431	chr2:152683731-152981827	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv875287	chr2:152714680-153110573	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv875288	chr2:152716628-153183646	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv875289	chr2:152720030-153183646	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv875290	chr2:152803129-152920126	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152827400-152834800	Weak transcription	Esophagus	oesophagus
2	chr2:152828800-152832800	Flanking Active TSS	HepG2	liver
3	chr2:152830200-152831600	Enhancers	Fetal Muscle Leg	muscle
4	chr2:152830200-152832000	Enhancers	Fetal Kidney	kidney
5	chr2:152830400-152831400	Enhancers	Fetal Muscle Trunk	muscle
6	chr2:152830400-152831800	Weak transcription	Fetal Intestine Large	intestine
7	chr2:152830600-152831400	Enhancers	Fetal Lung	lung
8	chr2:152830600-152831600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:152830600-152832000	Weak transcription	Fetal Intestine Small	intestine
10	chr2:152830600-152833000	Weak transcription	GM12878-XiMat	blood
11	chr2:152830600-152833400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:152830600-152833400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:152830600-152836800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:152830600-152841200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:152831000-152831400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:152831200-152831600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:152831200-152832000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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