Variant report

Variant	rs1044608
Chromosome Location	chr7:150502016-150502017
allele	C/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:4)
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	chr7:150501997-150502047	PFSK-1	brain:	n/a
2	chr7:150501997-150502047	AG10803	skin:	n/a
3	chr7:150501997-150502047	Hela-S3	cervix:	n/a
4	chr7:150501997-150502047	HRCEpiC	kidney:	n/a
5	chr7:150501997-150502047	NH-A	brain:	n/a
6	chr7:150501997-150502047	LNCaP	prostate:	n/a
7	chr7:150501997-150502047	HRE	kidney:	n/a
8	chr7:150501997-150502047	GM12892	blood:	n/a
9	chr7:150501997-150502047	AG09319	gingival:	n/a
10	chr7:150501997-150502047	GM06990	blood:	n/a
11	chr7:150501997-150502047	ECC-1	luminal epithelium:	n/a
12	chr7:150501997-150502047	GM12878	blood:	n/a
13	chr7:150501997-150502047	Hepatocyte	liver:	n/a
14	chr7:150501997-150502047	HEEpiC	esophagus:	n/a
15	chr7:150501997-150502047	AoSMC	blood vessel:	n/a
16	chr7:150501997-150502047	T-47D	breast:	n/a
17	chr7:150501997-150502047	HCT-116	colon:	n/a
18	chr7:150501997-150502047	GM12891	blood:	n/a
19	chr7:150501997-150502047	A549	lung:	n/a
20	chr7:150501997-150502047	HMEC	breast:	n/a
21	chr7:150501997-150502047	HPAEpiC	pulmonary alveolar:	n/a
22	chr7:150501997-150502047	NHDF-neo	bronchial:	n/a
23	chr7:150501997-150502047	RPTEC	kidney:	n/a
24	chr7:150501997-150502047	AG04449	skin:	fetal
25	chr7:150501997-150502047	SK-N-SH_RA	brain:	n/a
26	chr7:150501997-150502047	ProgFib	skin:	n/a
27	chr7:150501997-150502047	Caco-2	colon:	n/a
28	chr7:150501997-150502047	SK-N-SH	brain:	n/a
29	chr7:150501997-150502047	U87	brain:	n/a
30	chr7:150501997-150502047	AG09309	skin:	n/a
31	chr7:150501997-150502047	AG04450	lung:	fetal
32	chr7:150501997-150502047	IMR90	lung:	fetal
33	chr7:150501997-150502047	HIPEpiC	eye:	n/a
34	chr7:150501997-150502047	NT2-D1	testis:	n/a
35	chr7:150501997-150502047	BE2_C	brain:	n/a
36	chr7:150501997-150502047	MCF-7	breast:	n/a
37	chr7:150501997-150502047	NHBE	bronchial:	n/a
38	chr7:150501997-150502047	K562	blood:	n/a
39	chr7:150501997-150502047	HCM	heart:	n/a
40	chr7:150501997-150502047	HRPEpiC	eye:	n/a
41	chr7:150501997-150502047	H1-hESC	embryonic stem cell:	embryo
42	chr7:150501997-150502047	Jurkat	blood:	n/a
43	chr7:150501997-150502047	HCF	heart:	n/a
44	chr7:150501997-150502047	BJ	skin:	n/a
45	chr7:150501997-150502047	MCF10A-Er-Src	breast:	n/a
46	chr7:150501997-150502047	CMK	blood:	n/a
47	chr7:150501997-150502047	HAEpiC	amniotic membrane:	n/a
48	chr7:150501997-150502047	NB4	blood:	n/a
49	chr7:150501997-150502047	SKMC	muscle:	n/a
50	chr7:150501997-150502047	HEK293	kidney:	embryo

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

No.	Distal block	Cell Line	Cell type
1	chr7:150488420..150491696-chr7:150501354..150503794,3	MCF-7	breast:
2	chr7:150495928..150500354-chr7:150501130..150505366,6	MCF-7	breast:
3	chr14:103799690..103801722-chr7:150499990..150502552,2	MCF-7	breast:
4	chr7:150499274..150501155-chr7:150501980..150504759,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABP1-3	chr7:150501915-150502202	NONHSAT124157

No data

Variant related genes	Relation type
TMEM176B	CpG island
ENSG00000002933	Chromatin interaction
ENSG00000100664	Chromatin interaction
ENSG00000106565	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150498800-150502800	Weak transcription	Gastric	stomach
2	chr7:150498800-150503000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:150499400-150503000	Strong transcription	Ovary	ovary
4	chr7:150499600-150502800	Weak transcription	Esophagus	oesophagus
5	chr7:150499800-150502600	Weak transcription	Brain Anterior Caudate	brain
6	chr7:150500200-150503000	Weak transcription	Brain Substantia Nigra	brain
7	chr7:150500400-150502600	Strong transcription	Duodenum Smooth Muscle	Duodenum
8	chr7:150500600-150502800	Strong transcription	Duodenum Mucosa	Duodenum
9	chr7:150500600-150503600	Weak transcription	Stomach Mucosa	stomach
10	chr7:150501000-150502200	Weak transcription	Right Ventricle	heart
11	chr7:150501000-150502600	Strong transcription	Colonic Mucosa	Colon
12	chr7:150501000-150502800	Strong transcription	Fetal Intestine Small	intestine
13	chr7:150501000-150502800	Strong transcription	Fetal Muscle Leg	muscle
14	chr7:150501000-150502800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:150501000-150502800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr7:150501000-150503000	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:150501000-150503600	Strong transcription	Fetal Intestine Large	intestine
18	chr7:150501400-150502600	Strong transcription	Small Intestine	intestine
19	chr7:150501400-150502800	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr7:150501400-150503400	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr7:150501400-150503400	ZNF genes & repeats	Fetal Stomach	stomach
22	chr7:150501400-150503600	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr7:150501600-150502800	Weak transcription	Left Ventricle	heart
24	chr7:150501800-150502800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:150501800-150503000	Strong transcription	Liver	Liver
26	chr7:150501800-150503000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr7:150502000-150502600	Strong transcription	Stomach Smooth Muscle	stomach

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