Variant report

Variant	rs34938912
Chromosome Location	chr2:187867340-187867341
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr2:187867205-187868210	K562	blood:	n/a	n/a
2	CBX3	chr2:187867316-187868162	K562	blood:	n/a	n/a
3	GABPA	chr2:187867244-187868307	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:187867339-187867389	HCF	heart:	n/a
2	chr2:187867339-187867389	Hela-S3	cervix:	n/a
3	chr2:187867339-187867389	RPTEC	kidney:	n/a
4	chr2:187867339-187867389	AG04450	lung:	fetal
5	chr2:187867339-187867389	HL-60	blood:	n/a
6	chr2:187867339-187867389	H1-hESC	embryonic stem cell:	embryo
7	chr2:187867339-187867389	SK-N-MC	brain:	n/a
8	chr2:187867339-187867389	NHDF-neo	bronchial:	n/a
9	chr2:187867339-187867389	SK-N-SH_RA	brain:	n/a
10	chr2:187867339-187867389	SAEC	small airway:	n/a
11	chr2:187867339-187867389	HEK293	kidney:	embryo
12	chr2:187867339-187867389	A549	lung:	n/a
13	chr2:187867339-187867389	BJ	skin:	n/a
14	chr2:187867339-187867389	HEEpiC	esophagus:	n/a
15	chr2:187867339-187867389	HNPCEpiC	eye:	n/a
16	chr2:187867339-187867389	U87	brain:	n/a
17	chr2:187867339-187867389	NB4	blood:	n/a
18	chr2:187867339-187867389	HCT-116	colon:	n/a
19	chr2:187867339-187867389	GM12891	blood:	n/a
20	chr2:187867339-187867389	PrEC	prostate:	n/a
21	chr2:187867339-187867389	GM06990	blood:	n/a
22	chr2:187867339-187867389	HCPEpiC	choroid plexus:	n/a
23	chr2:187867339-187867389	AG09319	gingival:	n/a
24	chr2:187867339-187867389	HRCEpiC	kidney:	n/a
25	chr2:187867339-187867389	LNCaP	prostate:	n/a
26	chr2:187867339-187867389	NT2-D1	testis:	n/a
27	chr2:187867339-187867389	HMEC	breast:	n/a
28	chr2:187867339-187867389	NHBE	bronchial:	n/a
29	chr2:187867339-187867389	HPAEpiC	pulmonary alveolar:	n/a
30	chr2:187867339-187867389	BE2_C	brain:	n/a
31	chr2:187867339-187867389	AG04449	skin:	fetal
32	chr2:187867339-187867389	AG09309	skin:	n/a
33	chr2:187867339-187867389	T-47D	breast:	n/a
34	chr2:187867339-187867389	ProgFib	skin:	n/a
35	chr2:187867339-187867389	MCF10A-Er-Src	breast:	n/a
36	chr2:187867339-187867389	HRPEpiC	eye:	n/a
37	chr2:187867339-187867389	GM12892	blood:	n/a
38	chr2:187867339-187867389	Caco-2	colon:	n/a
39	chr2:187867339-187867389	MCF-7	breast:	n/a
40	chr2:187867339-187867389	SKMC	muscle:	n/a
41	chr2:187867339-187867389	CMK	blood:	n/a
42	chr2:187867339-187867389	ovcar-3	ovarian:	n/a
43	chr2:187867339-187867389	SK-N-SH	brain:	n/a
44	chr2:187867339-187867389	GM12878	blood:	n/a
45	chr2:187867339-187867389	IMR90	lung:	fetal
46	chr2:187867339-187867389	HRE	kidney:	n/a
47	chr2:187867339-187867389	HUVEC	blood vessel:	n/a
48	chr2:187867339-187867389	HCM	heart:	n/a
49	chr2:187867339-187867389	GM19239	blood:	n/a
50	chr2:187867339-187867389	AG10803	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187856443..187858232-chr2:187865302..187867610,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224063	TF binding region
ENSG00000224063	CpG island

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10205822	0.86[CEU][hapmap];0.87[GIH][hapmap]
rs10931267	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11894779	0.83[ASN][1000 genomes]
rs12464291	0.80[EUR][1000 genomes]
rs12465733	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12469871	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12471570	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs12614343	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs13000137	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13024632	0.83[ASN][1000 genomes]
rs13431778	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2370734	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2370735	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2370737	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2887838	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34460383	0.85[ASN][1000 genomes]
rs35252928	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3845713	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3856420	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4093127	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4277485	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4667133	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4667138	0.86[CEU][hapmap];0.87[GIH][hapmap]
rs56121767	0.85[ASN][1000 genomes]
rs72904956	0.81[AMR][1000 genomes]
rs7602307	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7602536	0.89[ASN][1000 genomes]
rs7602852	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv528437	chr2:187778830-187907901	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv999207	chr2:187787121-187924667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv536084	chr2:187787121-187924667	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv875553	chr2:187856937-188067355	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34938912	TMEM194B	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187866800-187875600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:187867000-187867400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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