Variant report

Variant	rs143751074
Chromosome Location	chr7:64030995-64030996
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:0)
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	chr7:64030969-64031019	GM06990	blood:	n/a
2	chr7:64030969-64031019	PrEC	prostate:	n/a
3	chr7:64030969-64031019	NH-A	brain:	n/a
4	chr7:64030969-64031019	AoSMC	blood vessel:	n/a
5	chr7:64030969-64031019	Hepatocyte	liver:	n/a
6	chr7:64030969-64031019	NHDF-neo	bronchial:	n/a
7	chr7:64030969-64031019	HCF	heart:	n/a
8	chr7:64030969-64031019	ProgFib	skin:	n/a
9	chr7:64030969-64031019	A549	lung:	n/a
10	chr7:64030969-64031019	K562	blood:	n/a
11	chr7:64030969-64031019	HRCEpiC	kidney:	n/a
12	chr7:64030969-64031019	Jurkat	blood:	n/a
13	chr7:64030969-64031019	NHBE	bronchial:	n/a
14	chr7:64030969-64031019	MCF-7	breast:	n/a
15	chr7:64030969-64031019	H1-hESC	embryonic stem cell:	embryo
16	chr7:64030969-64031019	U87	brain:	n/a
17	chr7:64030969-64031019	AG09319	gingival:	n/a
18	chr7:64030969-64031019	IMR90	lung:	fetal
19	chr7:64030969-64031019	HNPCEpiC	eye:	n/a
20	chr7:64030969-64031019	NB4	blood:	n/a
21	chr7:64030969-64031019	SK-N-MC	brain:	n/a
22	chr7:64030969-64031019	Caco-2	colon:	n/a
23	chr7:64030969-64031019	SKMC	muscle:	n/a
24	chr7:64030969-64031019	PFSK-1	brain:	n/a
25	chr7:64030969-64031019	HEEpiC	esophagus:	n/a
26	chr7:64030969-64031019	MCF10A-Er-Src	breast:	n/a
27	chr7:64030969-64031019	NT2-D1	testis:	n/a
28	chr7:64030969-64031019	ECC-1	luminal epithelium:	n/a
29	chr7:64030969-64031019	HIPEpiC	eye:	n/a
30	chr7:64030969-64031019	HCM	heart:	n/a
31	chr7:64030969-64031019	GM12891	blood:	n/a
32	chr7:64030969-64031019	HL-60	blood:	n/a
33	chr7:64030969-64031019	Hela-S3	cervix:	n/a
34	chr7:64030969-64031019	AG04449	skin:	fetal
35	chr7:64030969-64031019	HUVEC	blood vessel:	n/a
36	chr7:64030969-64031019	AG04450	lung:	fetal
37	chr7:64030969-64031019	HCT-116	colon:	n/a
38	chr7:64030969-64031019	AG09309	skin:	n/a
39	chr7:64030969-64031019	ovcar-3	ovarian:	n/a
40	chr7:64030969-64031019	GM12878	blood:	n/a
41	chr7:64030969-64031019	HRE	kidney:	n/a
42	chr7:64030969-64031019	HAEpiC	amniotic membrane:	n/a
43	chr7:64030969-64031019	HEK293	kidney:	embryo
44	chr7:64030969-64031019	HMEC	breast:	n/a
45	chr7:64030969-64031019	BJ	skin:	n/a
46	chr7:64030969-64031019	RPTEC	kidney:	n/a
47	chr7:64030969-64031019	HepG2	liver:	n/a
48	chr7:64030969-64031019	SAEC	small airway:	n/a
49	chr7:64030969-64031019	SK-N-SH_RA	brain:	n/a
50	chr7:64030969-64031019	GM12892	blood:	n/a

No data

Variant related genes	Relation type
ENSG00000213642	CpG island
ENSG00000235349	CpG island

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429759	chr7:63662150-64110550	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv429760	chr7:63687850-64110550	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv427787	chr7:63741770-64419520	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv429761	chr7:63747498-64096138	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	esv2764000	chr7:63766980-64275251	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
7	nsv429762	chr7:63790450-64110550	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	esv2755057	chr7:63819849-64345822	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
9	nsv1031703	chr7:63839601-64225952	Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
10	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
11	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
12	nsv1023042	chr7:63956027-64116232	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv888271	chr7:63961212-64295884	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
14	nsv888273	chr7:63990100-64291622	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
15	nsv888274	chr7:63990100-64331123	Strong transcription ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
16	nsv888275	chr7:63990100-64468590	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
17	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
18	nsv1021893	chr7:63995601-64155027	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
19	nsv538892	chr7:63995601-64155027	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
20	nsv888277	chr7:64023581-64054804	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	esv3321696	chr7:64029742-64032290	Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64029400-64031200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:64029600-64031000	Active TSS	Right Ventricle	heart
3	chr7:64029600-64031200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr7:64029600-64031200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr7:64029800-64031000	Active TSS	Psoas Muscle	Psoas
6	chr7:64029800-64031200	Active TSS	Brain Angular Gyrus	brain
7	chr7:64029800-64031200	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr7:64029800-64031200	Active TSS	Right Atrium	heart
9	chr7:64030000-64031200	Active TSS	Ovary	ovary
10	chr7:64030600-64031000	Bivalent/Poised TSS	Thymus	Thymus
11	chr7:64030600-64031200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr7:64030600-64035000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:64030800-64031000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:64030800-64031200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
15	chr7:64030800-64031200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:64030800-64031200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr7:64030800-64031200	Bivalent Enhancer	Brain Germinal Matrix	brain
18	chr7:64030800-64031200	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr7:64030800-64031200	Bivalent/Poised TSS	Fetal Lung	lung
20	chr7:64030800-64031400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr7:64030800-64031400	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr7:64030800-64031400	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr7:64030800-64032400	Weak transcription	Placenta	Placenta
24	chr7:64030800-64032600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:64030800-64034800	Weak transcription	Liver	Liver
26	chr7:64030800-64034800	Weak transcription	Fetal Brain Female	brain
27	chr7:64030800-64035000	Weak transcription	Aorta	Aorta
28	chr7:64030800-64035000	Weak transcription	Pancreas	Pancrea
29	chr7:64030800-64035000	Weak transcription	Rectal Mucosa Donor 31	rectum

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