Variant report

Variant	rs12082302
Chromosome Location	chr1:170490435-170490436
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:170490434-170490484	MCF-7	breast:	n/a
2	chr1:170490434-170490484	HCT-116	colon:	n/a
3	chr1:170490434-170490484	PrEC	prostate:	n/a
4	chr1:170490434-170490484	A549	lung:	n/a
5	chr1:170490434-170490484	Hela-S3	cervix:	n/a
6	chr1:170490434-170490484	SK-N-MC	brain:	n/a
7	chr1:170490434-170490484	T-47D	breast:	n/a
8	chr1:170490434-170490484	HCPEpiC	choroid plexus:	n/a
9	chr1:170490434-170490484	HNPCEpiC	eye:	n/a
10	chr1:170490434-170490484	NHDF-neo	bronchial:	n/a
11	chr1:170490434-170490484	ovcar-3	ovarian:	n/a
12	chr1:170490434-170490484	MCF10A-Er-Src	breast:	n/a
13	chr1:170490434-170490484	SKMC	muscle:	n/a
14	chr1:170490434-170490484	GM06990	blood:	n/a
15	chr1:170490434-170490484	Hepatocyte	liver:	n/a
16	chr1:170490434-170490484	AG09309	skin:	n/a
17	chr1:170490434-170490484	AG10803	skin:	n/a
18	chr1:170490434-170490484	BE2_C	brain:	n/a
19	chr1:170490434-170490484	HMEC	breast:	n/a
20	chr1:170490434-170490484	ECC-1	luminal epithelium:	n/a
21	chr1:170490434-170490484	HIPEpiC	eye:	n/a
22	chr1:170490434-170490484	HRE	kidney:	n/a
23	chr1:170490434-170490484	HCM	heart:	n/a
24	chr1:170490434-170490484	RPTEC	kidney:	n/a
25	chr1:170490434-170490484	SAEC	small airway:	n/a
26	chr1:170490434-170490484	HEK293	kidney:	embryo
27	chr1:170490434-170490484	SK-N-SH_RA	brain:	n/a
28	chr1:170490434-170490484	CMK	blood:	n/a
29	chr1:170490434-170490484	GM12892	blood:	n/a
30	chr1:170490434-170490484	HPAEpiC	pulmonary alveolar:	n/a
31	chr1:170490434-170490484	LNCaP	prostate:	n/a
32	chr1:170490434-170490484	HRCEpiC	kidney:	n/a
33	chr1:170490434-170490484	K562	blood:	n/a
34	chr1:170490434-170490484	HepG2	liver:	n/a
35	chr1:170490434-170490484	HRPEpiC	eye:	n/a
36	chr1:170490434-170490484	HAEpiC	amniotic membrane:	n/a
37	chr1:170490434-170490484	HEEpiC	esophagus:	n/a
38	chr1:170490434-170490484	NHBE	bronchial:	n/a
39	chr1:170490434-170490484	Caco-2	colon:	n/a
40	chr1:170490434-170490484	GM12891	blood:	n/a
41	chr1:170490434-170490484	AG04450	lung:	fetal
42	chr1:170490434-170490484	GM12878	blood:	n/a
43	chr1:170490434-170490484	Jurkat	blood:	n/a
44	chr1:170490434-170490484	NH-A	brain:	n/a
45	chr1:170490434-170490484	ProgFib	skin:	n/a
46	chr1:170490434-170490484	AG04449	skin:	fetal
47	chr1:170490434-170490484	AoSMC	blood vessel:	n/a
48	chr1:170490434-170490484	NB4	blood:	n/a
49	chr1:170490434-170490484	U87	brain:	n/a
50	chr1:170490434-170490484	H1-hESC	embryonic stem cell:	embryo

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

No.	Distal block	Cell Line	Cell type
1	chr1:170489857..170492306-chr1:170500327..170502278,3	K562	blood:
2	chr1:170490274..170493135-chr1:170498401..170502278,3	K562	blood:
3	chr1:170489121..170492119-chr1:170494227..170497230,3	K562	blood:
4	chr1:170483969..170486161-chr1:170489073..170491047,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000231407	CpG island
ENSG00000231407	Chromatin interaction
ENSG00000120370	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10919419	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10919420	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12096881	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv872543	chr1:170171083-170674903	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv533915	chr1:170258766-170725296	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170482600-170490600	Weak transcription	Psoas Muscle	Psoas
2	chr1:170487200-170500200	Weak transcription	Right Ventricle	heart
3	chr1:170487400-170491200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:170487600-170492000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:170488600-170492600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:170489400-170491200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr1:170489600-170490600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:170489600-170490600	Enhancers	Osteobl	bone
9	chr1:170489600-170492400	Enhancers	NHLF	lung
10	chr1:170489800-170490600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:170489800-170492400	Enhancers	NHDF-Ad	bronchial
12	chr1:170490200-170492000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:170490400-170492600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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