Variant report

Variant	rs714885
Chromosome Location	chr7:150499787-150499788
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:2)
LncRNA
region (count:1)
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	chr7:150499737-150499787	SKMC	muscle:	n/a
2	chr7:150499737-150499787	HL-60	blood:	n/a
3	chr7:150499737-150499787	BJ	skin:	n/a
4	chr7:150499737-150499787	HepG2	liver:	n/a
5	chr7:150499737-150499787	SAEC	small airway:	n/a
6	chr7:150499737-150499787	HCT-116	colon:	n/a
7	chr7:150499737-150499787	HPAEpiC	pulmonary alveolar:	n/a
8	chr7:150499737-150499787	HMEC	breast:	n/a
9	chr7:150499737-150499787	HRE	kidney:	n/a
10	chr7:150499737-150499787	ovcar-3	ovarian:	n/a
11	chr7:150499737-150499787	H1-hESC	embryonic stem cell:	embryo
12	chr7:150499737-150499787	HCF	heart:	n/a
13	chr7:150499737-150499787	PANC-1	pancreas:	n/a
14	chr7:150499737-150499787	NH-A	brain:	n/a
15	chr7:150499737-150499787	SK-N-MC	brain:	n/a
16	chr7:150499737-150499787	AG04449	skin:	fetal
17	chr7:150499737-150499787	RPTEC	kidney:	n/a
18	chr7:150499737-150499787	AG04450	lung:	fetal
19	chr7:150499737-150499787	Hepatocyte	liver:	n/a
20	chr7:150499737-150499787	ECC-1	luminal epithelium:	n/a
21	chr7:150499737-150499787	Caco-2	colon:	n/a
22	chr7:150499737-150499787	HRCEpiC	kidney:	n/a
23	chr7:150499737-150499787	Hela-S3	cervix:	n/a
24	chr7:150499737-150499787	CMK	blood:	n/a
25	chr7:150499737-150499787	T-47D	breast:	n/a
26	chr7:150499737-150499787	HUVEC	blood vessel:	n/a
27	chr7:150499737-150499787	MCF10A-Er-Src	breast:	n/a
28	chr7:150499737-150499787	GM06990	blood:	n/a
29	chr7:150499737-150499787	Jurkat	blood:	n/a
30	chr7:150499737-150499787	GM12891	blood:	n/a
31	chr7:150499737-150499787	NT2-D1	testis:	n/a
32	chr7:150499737-150499787	BE2_C	brain:	n/a
33	chr7:150499737-150499787	GM12878	blood:	n/a
34	chr7:150499737-150499787	HAEpiC	amniotic membrane:	n/a
35	chr7:150499737-150499787	AG09309	skin:	n/a
36	chr7:150499737-150499787	ProgFib	skin:	n/a
37	chr7:150499737-150499787	IMR90	lung:	fetal
38	chr7:150499737-150499787	NB4	blood:	n/a
39	chr7:150499737-150499787	MCF-7	breast:	n/a
40	chr7:150499737-150499787	NHDF-neo	bronchial:	n/a
41	chr7:150499737-150499787	AG10803	skin:	n/a
42	chr7:150499737-150499787	HEEpiC	esophagus:	n/a
43	chr7:150499737-150499787	K562	blood:	n/a
44	chr7:150499737-150499787	LNCaP	prostate:	n/a
45	chr7:150499737-150499787	GM19239	blood:	n/a
46	chr7:150499737-150499787	PrEC	prostate:	n/a
47	chr7:150499737-150499787	SK-N-SH	brain:	n/a
48	chr7:150499737-150499787	GM12892	blood:	n/a
49	chr7:150499737-150499787	HIPEpiC	eye:	n/a
50	chr7:150499737-150499787	HEK293	kidney:	embryo

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150418208..150420407-chr7:150499249..150501046,2	K562	blood:
2	chr7:150490163..150495069-chr7:150496481..150500897,6	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABP1-3	chr7:150499144-150500920	NONHSAT124157

No data

Variant related genes	Relation type
TMEM176B	CpG island
TMEM176A	CpG island
ENSG00000106565	Chromatin interaction
ENSG00000196329	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1108577	1.00[CEU][hapmap];0.84[GIH][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs714886	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs726647	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs741067	1.00[CEU][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs741068	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9088	1.00[CEU][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv831187	chr7:150325913-150503500	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs714885	TMEM176A	cis	multi-tissue	Pritchard
rs714885	EZH2	cis	cerebellum	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150498000-150499800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
2	chr7:150498600-150500400	Weak transcription	Left Ventricle	heart
3	chr7:150498600-150500800	Weak transcription	Right Atrium	heart
4	chr7:150498800-150499800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
5	chr7:150498800-150501600	Enhancers	Placenta	Placenta
6	chr7:150498800-150502800	Weak transcription	Gastric	stomach
7	chr7:150498800-150503000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:150499000-150499800	Bivalent Enhancer	Brain Substantia Nigra	brain
9	chr7:150499000-150499800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
10	chr7:150499200-150499800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:150499200-150499800	Bivalent Enhancer	Fetal Stomach	stomach
12	chr7:150499200-150500600	Enhancers	Stomach Mucosa	stomach
13	chr7:150499200-150501000	Genic enhancers	Fetal Intestine Large	intestine
14	chr7:150499200-150501200	Transcr. at gene 5' and 3'	Liver	Liver
15	chr7:150499400-150499800	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
16	chr7:150499400-150499800	Flanking Active TSS	Spleen	Spleen
17	chr7:150499400-150500000	Bivalent Enhancer	Adipose Nuclei	Adipose
18	chr7:150499400-150500600	Enhancers	Small Intestine	intestine
19	chr7:150499400-150501000	Genic enhancers	Fetal Muscle Leg	muscle
20	chr7:150499400-150501000	Enhancers	Right Ventricle	heart
21	chr7:150499400-150501000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
22	chr7:150499400-150503000	Strong transcription	Ovary	ovary
23	chr7:150499600-150499800	Enhancers	Colonic Mucosa	Colon
24	chr7:150499600-150499800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr7:150499600-150499800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr7:150499600-150499800	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
27	chr7:150499600-150501000	Genic enhancers	Fetal Intestine Small	intestine
28	chr7:150499600-150501000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
29	chr7:150499600-150501800	Weak transcription	Pancreas	Pancrea
30	chr7:150499600-150502800	Weak transcription	Esophagus	oesophagus

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