Variant report

Variant	rs73349887
Chromosome Location	chr7:50529399-50529400
allele	C/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:3)
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	chr7:50529359-50529409	K562	blood:	n/a
2	chr7:50529359-50529409	U87	brain:	n/a
3	chr7:50529359-50529409	HCF	heart:	n/a
4	chr7:50529359-50529409	H1-hESC	embryonic stem cell:	embryo
5	chr7:50529359-50529409	ProgFib	skin:	n/a
6	chr7:50529359-50529409	SK-N-SH	brain:	n/a
7	chr7:50529359-50529409	HCT-116	colon:	n/a
8	chr7:50529359-50529409	HRCEpiC	kidney:	n/a
9	chr7:50529359-50529409	GM12878	blood:	n/a
10	chr7:50529359-50529409	HMEC	breast:	n/a
11	chr7:50529359-50529409	Jurkat	blood:	n/a
12	chr7:50529359-50529409	HEK293	kidney:	embryo
13	chr7:50529359-50529409	HRE	kidney:	n/a
14	chr7:50529359-50529409	HL-60	blood:	n/a
15	chr7:50529359-50529409	IMR90	lung:	fetal
16	chr7:50529359-50529409	HRPEpiC	eye:	n/a
17	chr7:50529359-50529409	BE2_C	brain:	n/a
18	chr7:50529359-50529409	AG09309	skin:	n/a
19	chr7:50529359-50529409	PrEC	prostate:	n/a
20	chr7:50529359-50529409	NH-A	brain:	n/a
21	chr7:50529359-50529409	PANC-1	pancreas:	n/a
22	chr7:50529359-50529409	MCF10A-Er-Src	breast:	n/a
23	chr7:50529359-50529409	Hela-S3	cervix:	n/a
24	chr7:50529359-50529409	ECC-1	luminal epithelium:	n/a
25	chr7:50529359-50529409	AG09319	gingival:	n/a
26	chr7:50529359-50529409	Hepatocyte	liver:	n/a
27	chr7:50529359-50529409	GM19239	blood:	n/a
28	chr7:50529359-50529409	HAEpiC	amniotic membrane:	n/a
29	chr7:50529359-50529409	SKMC	muscle:	n/a
30	chr7:50529359-50529409	PFSK-1	brain:	n/a
31	chr7:50529359-50529409	NT2-D1	testis:	n/a
32	chr7:50529359-50529409	T-47D	breast:	n/a
33	chr7:50529359-50529409	HUVEC	blood vessel:	n/a
34	chr7:50529359-50529409	HCM	heart:	n/a
35	chr7:50529359-50529409	HEEpiC	esophagus:	n/a
36	chr7:50529359-50529409	NHBE	bronchial:	n/a
37	chr7:50529359-50529409	NHDF-neo	bronchial:	n/a
38	chr7:50529359-50529409	CMK	blood:	n/a
39	chr7:50529359-50529409	GM12891	blood:	n/a
40	chr7:50529359-50529409	SAEC	small airway:	n/a
41	chr7:50529359-50529409	AoSMC	blood vessel:	n/a
42	chr7:50529359-50529409	AG10803	skin:	n/a
43	chr7:50529359-50529409	ovcar-3	ovarian:	n/a
44	chr7:50529359-50529409	BJ	skin:	n/a
45	chr7:50529359-50529409	AG04450	lung:	fetal
46	chr7:50529359-50529409	GM06990	blood:	n/a
47	chr7:50529359-50529409	GM12892	blood:	n/a
48	chr7:50529359-50529409	HPAEpiC	pulmonary alveolar:	n/a
49	chr7:50529359-50529409	HNPCEpiC	eye:	n/a
50	chr7:50529359-50529409	LNCaP	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr7:50525809..50527390-chr7:50527778..50530476,2	K562	blood:
2	chr7:50517207..50520150-chr7:50528801..50531186,2	MCF-7	breast:
3	chr7:50527491..50529507-chr7:50534060..50535878,2	K562	blood:

No data

Variant related genes	Relation type
DDC	CpG island
ENSG00000132437	Chromatin interaction
ENSG00000132436	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11575327	1.00[AMR][1000 genomes]
rs11575406	1.00[AMR][1000 genomes]
rs73349803	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	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	nsv1026081	chr7:50525900-50538184	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50518800-50535400	Weak transcription	Pancreas	Pancrea
2	chr7:50518800-50535600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:50518800-50535600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:50518800-50535600	Weak transcription	HepG2	liver
5	chr7:50519000-50529400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr7:50524800-50530000	Weak transcription	Liver	Liver
7	chr7:50528800-50533800	Strong transcription	Duodenum Mucosa	Duodenum
8	chr7:50528800-50535400	Weak transcription	Colonic Mucosa	Colon
9	chr7:50529200-50529600	ZNF genes & repeats	Fetal Intestine Small	intestine
10	chr7:50529200-50535600	Strong transcription	Fetal Intestine Large	intestine

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