Variant report

Variant	rs13071750
Chromosome Location	chr3:142340807-142340808
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: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	chr3:142340792-142340842	ECC-1	luminal epithelium:	n/a
2	chr3:142340792-142340842	GM12892	blood:	n/a
3	chr3:142340792-142340842	AG09309	skin:	n/a
4	chr3:142340792-142340842	HCPEpiC	choroid plexus:	n/a
5	chr3:142340792-142340842	PrEC	prostate:	n/a
6	chr3:142340792-142340842	SK-N-SH_RA	brain:	n/a
7	chr3:142340792-142340842	HAEpiC	amniotic membrane:	n/a
8	chr3:142340792-142340842	K562	blood:	n/a
9	chr3:142340792-142340842	Hela-S3	cervix:	n/a
10	chr3:142340792-142340842	BJ	skin:	n/a
11	chr3:142340792-142340842	NT2-D1	testis:	n/a
12	chr3:142340792-142340842	SKMC	muscle:	n/a
13	chr3:142340792-142340842	SK-N-SH	brain:	n/a
14	chr3:142340792-142340842	NH-A	brain:	n/a
15	chr3:142340792-142340842	Hepatocyte	liver:	n/a
16	chr3:142340792-142340842	NHBE	bronchial:	n/a
17	chr3:142340792-142340842	GM06990	blood:	n/a
18	chr3:142340792-142340842	GM12878	blood:	n/a
19	chr3:142340792-142340842	GM12891	blood:	n/a
20	chr3:142340792-142340842	MCF-7	breast:	n/a
21	chr3:142340792-142340842	PFSK-1	brain:	n/a
22	chr3:142340792-142340842	HEK293	kidney:	embryo
23	chr3:142340792-142340842	HEEpiC	esophagus:	n/a
24	chr3:142340792-142340842	HCM	heart:	n/a
25	chr3:142340792-142340842	HUVEC	blood vessel:	n/a
26	chr3:142340792-142340842	PANC-1	pancreas:	n/a
27	chr3:142340792-142340842	ProgFib	skin:	n/a
28	chr3:142340792-142340842	AG09319	gingival:	n/a
29	chr3:142340792-142340842	HepG2	liver:	n/a
30	chr3:142340792-142340842	AoSMC	blood vessel:	n/a
31	chr3:142340792-142340842	HMEC	breast:	n/a
32	chr3:142340792-142340842	AG04449	skin:	fetal
33	chr3:142340792-142340842	BE2_C	brain:	n/a
34	chr3:142340792-142340842	HRCEpiC	kidney:	n/a
35	chr3:142340792-142340842	SAEC	small airway:	n/a
36	chr3:142340792-142340842	HRPEpiC	eye:	n/a
37	chr3:142340792-142340842	HNPCEpiC	eye:	n/a
38	chr3:142340792-142340842	A549	lung:	n/a
39	chr3:142340792-142340842	NHDF-neo	bronchial:	n/a
40	chr3:142340792-142340842	AG10803	skin:	n/a
41	chr3:142340792-142340842	AG04450	lung:	fetal
42	chr3:142340792-142340842	NB4	blood:	n/a
43	chr3:142340792-142340842	SK-N-MC	brain:	n/a
44	chr3:142340792-142340842	MCF10A-Er-Src	breast:	n/a
45	chr3:142340792-142340842	Caco-2	colon:	n/a
46	chr3:142340792-142340842	LNCaP	prostate:	n/a
47	chr3:142340792-142340842	H1-hESC	embryonic stem cell:	embryo
48	chr3:142340792-142340842	HCF	heart:	n/a
49	chr3:142340792-142340842	HL-60	blood:	n/a
50	chr3:142340792-142340842	HCT-116	colon:	n/a

No data

Variant related genes	Relation type
PLS1	CpG island

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11718899	0.84[EUR][1000 genomes]
rs11916455	0.86[CEU][hapmap]
rs11917460	0.90[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11928203	0.89[CEU][hapmap];0.83[AMR][1000 genomes]
rs13070239	0.85[CEU][hapmap]
rs13074153	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13078890	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13085261	0.85[CEU][hapmap]
rs13091247	0.81[ASN][1000 genomes]
rs13093304	0.84[EUR][1000 genomes]
rs13099184	0.82[CEU][hapmap]
rs2049326	0.89[CHB][hapmap]
rs2140437	0.89[CEU][hapmap];0.89[CHB][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2354858	0.90[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34372236	0.83[ASN][1000 genomes]
rs34392719	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4256152	0.85[CEU][hapmap]
rs4582075	0.86[CEU][hapmap]
rs4594656	0.89[CEU][hapmap];0.83[AMR][1000 genomes]
rs4683427	0.89[CEU][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs62278480	0.81[ASN][1000 genomes]
rs6809448	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7432464	0.84[EUR][1000 genomes]
rs9857567	0.81[YRI][hapmap]

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	nsv877560	chr3:142132749-142362179	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv932989	chr3:142204208-142423305	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142334000-142357200	Weak transcription	Pancreas	Pancrea
2	chr3:142337800-142348400	Weak transcription	Gastric	stomach
3	chr3:142338000-142344200	Weak transcription	Colonic Mucosa	Colon
4	chr3:142338400-142341800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:142338600-142343800	Weak transcription	HSMMtube	muscle
6	chr3:142339400-142341400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr3:142339400-142342600	Enhancers	Duodenum Mucosa	Duodenum
8	chr3:142340200-142345600	Weak transcription	A549	lung
9	chr3:142340600-142341000	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr3:142340600-142341000	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr3:142340600-142342800	Enhancers	Fetal Intestine Large	intestine
12	chr3:142340600-142343400	Enhancers	Fetal Intestine Small	intestine
13	chr3:142340800-142341200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr3:142340800-142341800	Weak transcription	Stomach Mucosa	stomach

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