Variant report

Variant	rs73342870
Chromosome Location	chr7:50634170-50634171
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:50634099-50634400	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:50634170-50634220	SKMC	muscle:	n/a
2	chr7:50634170-50634220	AG09319	gingival:	n/a
3	chr7:50634170-50634220	SK-N-SH_RA	brain:	n/a
4	chr7:50634170-50634220	ProgFib	skin:	n/a
5	chr7:50634170-50634220	SK-N-MC	brain:	n/a
6	chr7:50634170-50634220	AG10803	skin:	n/a
7	chr7:50634170-50634220	NB4	blood:	n/a
8	chr7:50634170-50634220	PANC-1	pancreas:	n/a
9	chr7:50634170-50634220	Hela-S3	cervix:	n/a
10	chr7:50634170-50634220	HRPEpiC	eye:	n/a
11	chr7:50634170-50634220	AG04449	skin:	fetal
12	chr7:50634170-50634220	MCF10A-Er-Src	breast:	n/a
13	chr7:50634170-50634220	SAEC	small airway:	n/a
14	chr7:50634170-50634220	HUVEC	blood vessel:	n/a
15	chr7:50634170-50634220	HEK293	kidney:	embryo
16	chr7:50634170-50634220	GM06990	blood:	n/a
17	chr7:50634170-50634220	BE2_C	brain:	n/a
18	chr7:50634170-50634220	HPAEpiC	pulmonary alveolar:	n/a
19	chr7:50634170-50634220	MCF-7	breast:	n/a
20	chr7:50634170-50634220	AoSMC	blood vessel:	n/a
21	chr7:50634170-50634220	HCF	heart:	n/a
22	chr7:50634170-50634220	BJ	skin:	n/a
23	chr7:50634170-50634220	GM12891	blood:	n/a
24	chr7:50634170-50634220	HMEC	breast:	n/a
25	chr7:50634170-50634220	HRCEpiC	kidney:	n/a
26	chr7:50634170-50634220	HAEpiC	amniotic membrane:	n/a
27	chr7:50634170-50634220	PFSK-1	brain:	n/a
28	chr7:50634170-50634220	K562	blood:	n/a
29	chr7:50634170-50634220	NH-A	brain:	n/a
30	chr7:50634170-50634220	T-47D	breast:	n/a
31	chr7:50634170-50634220	GM12892	blood:	n/a
32	chr7:50634170-50634220	ovcar-3	ovarian:	n/a
33	chr7:50634170-50634220	A549	lung:	n/a
34	chr7:50634170-50634220	SK-N-SH	brain:	n/a
35	chr7:50634170-50634220	NT2-D1	testis:	n/a
36	chr7:50634170-50634220	GM12878	blood:	n/a
37	chr7:50634170-50634220	U87	brain:	n/a
38	chr7:50634170-50634220	Hepatocyte	liver:	n/a
39	chr7:50634170-50634220	NHBE	bronchial:	n/a
40	chr7:50634170-50634220	ECC-1	luminal epithelium:	n/a
41	chr7:50634170-50634220	HRE	kidney:	n/a
42	chr7:50634170-50634220	Caco-2	colon:	n/a
43	chr7:50634170-50634220	GM19239	blood:	n/a
44	chr7:50634170-50634220	HL-60	blood:	n/a
45	chr7:50634170-50634220	CMK	blood:	n/a
46	chr7:50634170-50634220	IMR90	lung:	fetal
47	chr7:50634170-50634220	HEEpiC	esophagus:	n/a
48	chr7:50634170-50634220	PrEC	prostate:	n/a
49	chr7:50634170-50634220	H1-hESC	embryonic stem cell:	embryo
50	chr7:50634170-50634220	AG04450	lung:	fetal

No data

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

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17133889	1.00[AFR][1000 genomes]
rs59812849	0.89[AFR][1000 genomes]
rs60933571	0.94[AFR][1000 genomes]
rs60982288	1.00[AFR][1000 genomes]
rs61412038	1.00[AFR][1000 genomes]
rs73342865	1.00[AFR][1000 genomes]
rs73342867	1.00[AFR][1000 genomes]
rs73342880	0.95[AFR][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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50620800-50635600	Weak transcription	Lung	lung
2	chr7:50633200-50634200	Enhancers	Liver	Liver
3	chr7:50633200-50634200	Flanking Active TSS	Duodenum Mucosa	Duodenum
4	chr7:50633200-50634200	Enhancers	Pancreas	Pancrea
5	chr7:50633200-50634200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr7:50633600-50634200	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr7:50633600-50635800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:50633800-50634400	Enhancers	HepG2	liver
9	chr7:50633800-50635200	Enhancers	Fetal Intestine Large	intestine
10	chr7:50633800-50635600	Enhancers	Fetal Intestine Small	intestine
11	chr7:50634000-50634200	Enhancers	Colonic Mucosa	Colon
12	chr7:50634000-50634200	Enhancers	Rectal Mucosa Donor 29	rectum

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