Variant report

Variant	rs1042640
Chromosome Location	chr2:234681544-234681545
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:234681368-234681552	GM12878	blood:	n/a	n/a
2	CTCF	chr2:234681286-234681549	IMR90	lung:	n/a	n/a
3	RAD21	chr2:234681290-234681585	SK-N-SH_RA	brain:	n/a	n/a
4	CTCF	chr2:234681420-234681570	HMEC	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:234681522-234681572	HMEC	breast:	n/a
2	chr2:234681522-234681572	HRCEpiC	kidney:	n/a
3	chr2:234681522-234681572	AG09309	skin:	n/a
4	chr2:234681522-234681572	NT2-D1	testis:	n/a
5	chr2:234681522-234681572	GM12878	blood:	n/a
6	chr2:234681522-234681572	HCM	heart:	n/a
7	chr2:234681522-234681572	NB4	blood:	n/a
8	chr2:234681522-234681572	PANC-1	pancreas:	n/a
9	chr2:234681522-234681572	SAEC	small airway:	n/a
10	chr2:234681522-234681572	SK-N-SH_RA	brain:	n/a
11	chr2:234681522-234681572	ovcar-3	ovarian:	n/a
12	chr2:234681522-234681572	BE2_C	brain:	n/a
13	chr2:234681522-234681572	T-47D	breast:	n/a
14	chr2:234681522-234681572	HepG2	liver:	n/a
15	chr2:234681522-234681572	Caco-2	colon:	n/a
16	chr2:234681522-234681572	HRPEpiC	eye:	n/a
17	chr2:234681522-234681572	NHBE	bronchial:	n/a
18	chr2:234681522-234681572	AG04450	lung:	fetal
19	chr2:234681522-234681572	HEK293	kidney:	embryo
20	chr2:234681522-234681572	U87	brain:	n/a
21	chr2:234681522-234681572	SK-N-MC	brain:	n/a
22	chr2:234681522-234681572	NH-A	brain:	n/a
23	chr2:234681522-234681572	HCT-116	colon:	n/a
24	chr2:234681522-234681572	PrEC	prostate:	n/a
25	chr2:234681522-234681572	Hela-S3	cervix:	n/a
26	chr2:234681522-234681572	CMK	blood:	n/a
27	chr2:234681522-234681572	MCF10A-Er-Src	breast:	n/a
28	chr2:234681522-234681572	HIPEpiC	eye:	n/a
29	chr2:234681522-234681572	PFSK-1	brain:	n/a
30	chr2:234681522-234681572	HCPEpiC	choroid plexus:	n/a
31	chr2:234681522-234681572	HL-60	blood:	n/a
32	chr2:234681522-234681572	SKMC	muscle:	n/a
33	chr2:234681522-234681572	ProgFib	skin:	n/a
34	chr2:234681522-234681572	K562	blood:	n/a
35	chr2:234681522-234681572	SK-N-SH	brain:	n/a
36	chr2:234681522-234681572	AG04449	skin:	fetal
37	chr2:234681522-234681572	HRE	kidney:	n/a
38	chr2:234681522-234681572	Jurkat	blood:	n/a
39	chr2:234681522-234681572	ECC-1	luminal epithelium:	n/a
40	chr2:234681522-234681572	RPTEC	kidney:	n/a
41	chr2:234681522-234681572	HCF	heart:	n/a
42	chr2:234681522-234681572	GM12892	blood:	n/a
43	chr2:234681522-234681572	HNPCEpiC	eye:	n/a
44	chr2:234681522-234681572	BJ	skin:	n/a
45	chr2:234681522-234681572	AG09319	gingival:	n/a
46	chr2:234681522-234681572	GM06990	blood:	n/a
47	chr2:234681522-234681572	MCF-7	breast:	n/a
48	chr2:234681522-234681572	LNCaP	prostate:	n/a
49	chr2:234681522-234681572	HEEpiC	esophagus:	n/a
50	chr2:234681522-234681572	HUVEC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234671110..234672927-chr2:234679739..234682197,2	K562	blood:

No data

Variant related genes	Relation type
MROH2A	TF binding region
MROH2A	CpG island

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10199525	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10929303	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10929304	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11903524	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1500482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1587493	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4663972	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6431631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6431632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6431633	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7583811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7596785	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8330	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv1811811	chr2:234633964-234709430	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 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	chr2:234669200-234683800	Weak transcription	Gastric	stomach
2	chr2:234672800-234685400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:234673800-234681600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:234673800-234683800	Weak transcription	Colonic Mucosa	Colon
5	chr2:234675400-234682400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:234675600-234683600	Weak transcription	A549	lung
7	chr2:234676200-234682000	Strong transcription	Liver	Liver
8	chr2:234678400-234683800	Weak transcription	Esophagus	oesophagus
9	chr2:234678600-234684000	Weak transcription	NHEK	skin
10	chr2:234680200-234683800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr2:234680600-234681600	Strong transcription	Duodenum Mucosa	Duodenum
12	chr2:234680800-234681600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:234680800-234681600	Strong transcription	Sigmoid Colon	Sigmoid Colon

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