Variant report

Variant	rs17023577
Chromosome Location	chr1:119960014-119960015
allele	G/T
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:0)
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	chr1:119960007-119960057	HCF	heart:	n/a
2	chr1:119960007-119960057	HUVEC	blood vessel:	n/a
3	chr1:119960007-119960057	U87	brain:	n/a
4	chr1:119960007-119960057	HRPEpiC	eye:	n/a
5	chr1:119960007-119960057	AG09309	skin:	n/a
6	chr1:119960007-119960057	IMR90	lung:	fetal
7	chr1:119960007-119960057	HCM	heart:	n/a
8	chr1:119960007-119960057	AG09319	gingival:	n/a
9	chr1:119960007-119960057	K562	blood:	n/a
10	chr1:119960007-119960057	NHBE	bronchial:	n/a
11	chr1:119960007-119960057	HepG2	liver:	n/a
12	chr1:119960007-119960057	Hepatocyte	liver:	n/a
13	chr1:119960007-119960057	Hela-S3	cervix:	n/a
14	chr1:119960007-119960057	SK-N-SH	brain:	n/a
15	chr1:119960007-119960057	T-47D	breast:	n/a
16	chr1:119960007-119960057	CMK	blood:	n/a
17	chr1:119960007-119960057	SK-N-MC	brain:	n/a
18	chr1:119960007-119960057	BE2_C	brain:	n/a
19	chr1:119960007-119960057	GM12878	blood:	n/a
20	chr1:119960007-119960057	PANC-1	pancreas:	n/a
21	chr1:119960007-119960057	HCT-116	colon:	n/a
22	chr1:119960007-119960057	H1-hESC	embryonic stem cell:	embryo
23	chr1:119960007-119960057	LNCaP	prostate:	n/a
24	chr1:119960007-119960057	MCF-7	breast:	n/a
25	chr1:119960007-119960057	SK-N-SH_RA	brain:	n/a
26	chr1:119960007-119960057	A549	lung:	n/a
27	chr1:119960007-119960057	HL-60	blood:	n/a
28	chr1:119960007-119960057	HCPEpiC	choroid plexus:	n/a
29	chr1:119960007-119960057	GM12891	blood:	n/a
30	chr1:119960007-119960057	GM06990	blood:	n/a
31	chr1:119960007-119960057	HIPEpiC	eye:	n/a
32	chr1:119960007-119960057	BJ	skin:	n/a
33	chr1:119960007-119960057	SAEC	small airway:	n/a
34	chr1:119960007-119960057	GM19239	blood:	n/a
35	chr1:119960007-119960057	AG04449	skin:	fetal
36	chr1:119960007-119960057	NHDF-neo	bronchial:	n/a
37	chr1:119960007-119960057	Caco-2	colon:	n/a
38	chr1:119960007-119960057	Jurkat	blood:	n/a
39	chr1:119960007-119960057	AG10803	skin:	n/a
40	chr1:119960007-119960057	AoSMC	blood vessel:	n/a
41	chr1:119960007-119960057	HEK293	kidney:	embryo
42	chr1:119960007-119960057	PrEC	prostate:	n/a
43	chr1:119960007-119960057	HNPCEpiC	eye:	n/a
44	chr1:119960007-119960057	MCF10A-Er-Src	breast:	n/a
45	chr1:119960007-119960057	HRCEpiC	kidney:	n/a
46	chr1:119960007-119960057	HPAEpiC	pulmonary alveolar:	n/a
47	chr1:119960007-119960057	ovcar-3	ovarian:	n/a
48	chr1:119960007-119960057	AG04450	lung:	fetal
49	chr1:119960007-119960057	ECC-1	luminal epithelium:	n/a
50	chr1:119960007-119960057	HMEC	breast:	n/a

No data

Variant related genes	Relation type
HSD3B2	CpG island

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10489812	0.92[CEU][hapmap]
rs11580104	0.91[CEU][hapmap]
rs1341015	0.91[CEU][hapmap]
rs1361530	0.92[CEU][hapmap]
rs1417607	0.92[CEU][hapmap]
rs1417608	0.91[CEU][hapmap]
rs2854961	0.85[CEU][hapmap]
rs5003333	0.92[CEU][hapmap]
rs56326451	0.92[AFR][1000 genomes]
rs72991463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv917091	chr1:119688975-120023222	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv34089	chr1:119752112-120072961	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv1004662	chr1:119847447-120154798	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	esv2763647	chr1:119929442-120154798	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv2599	chr1:119935023-119967748	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119956000-119962200	Weak transcription	Fetal Intestine Large	intestine
2	chr1:119959800-119961400	Weak transcription	Liver	Liver

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