Variant report

Variant	rs528590868
Chromosome Location	chr7:57471779-57471780
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr7:57471779-57472033	K562	blood:	n/a	n/a
2	HA-E2F1	chr7:57471665-57472774	MCF-7	breast:	n/a	chr7:57472208-57472220 chr7:57472315-57472324

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:57471759-57471809	HRE	kidney:	n/a
2	chr7:57471759-57471809	AoSMC	blood vessel:	n/a
3	chr7:57471759-57471809	HMEC	breast:	n/a
4	chr7:57471759-57471809	CMK	blood:	n/a
5	chr7:57471759-57471809	HIPEpiC	eye:	n/a
6	chr7:57471759-57471809	ovcar-3	ovarian:	n/a
7	chr7:57471759-57471809	HCM	heart:	n/a
8	chr7:57471759-57471809	HRPEpiC	eye:	n/a
9	chr7:57471759-57471809	RPTEC	kidney:	n/a
10	chr7:57471759-57471809	SK-N-SH_RA	brain:	n/a
11	chr7:57471759-57471809	PrEC	prostate:	n/a
12	chr7:57471759-57471809	H1-hESC	embryonic stem cell:	embryo
13	chr7:57471759-57471809	HRCEpiC	kidney:	n/a
14	chr7:57471759-57471809	AG09309	skin:	n/a
15	chr7:57471759-57471809	Hepatocyte	liver:	n/a
16	chr7:57471759-57471809	NHBE	bronchial:	n/a
17	chr7:57471759-57471809	Caco-2	colon:	n/a
18	chr7:57471759-57471809	HPAEpiC	pulmonary alveolar:	n/a
19	chr7:57471759-57471809	NB4	blood:	n/a
20	chr7:57471759-57471809	NHDF-neo	bronchial:	n/a
21	chr7:57471759-57471809	GM06990	blood:	n/a
22	chr7:57471759-57471809	GM12891	blood:	n/a
23	chr7:57471759-57471809	T-47D	breast:	n/a
24	chr7:57471759-57471809	HCF	heart:	n/a
25	chr7:57471759-57471809	HEEpiC	esophagus:	n/a
26	chr7:57471759-57471809	Hela-S3	cervix:	n/a
27	chr7:57471759-57471809	HepG2	liver:	n/a
28	chr7:57471759-57471809	IMR90	lung:	fetal
29	chr7:57471759-57471809	HCT-116	colon:	n/a
30	chr7:57471759-57471809	HEK293	kidney:	embryo
31	chr7:57471759-57471809	HUVEC	blood vessel:	n/a
32	chr7:57471759-57471809	SK-N-SH	brain:	n/a
33	chr7:57471759-57471809	HL-60	blood:	n/a
34	chr7:57471759-57471809	MCF-7	breast:	n/a
35	chr7:57471759-57471809	A549	lung:	n/a
36	chr7:57471759-57471809	MCF10A-Er-Src	breast:	n/a
37	chr7:57471759-57471809	AG04450	lung:	fetal
38	chr7:57471759-57471809	LNCaP	prostate:	n/a
39	chr7:57471759-57471809	PANC-1	pancreas:	n/a
40	chr7:57471759-57471809	SAEC	small airway:	n/a
41	chr7:57471759-57471809	AG10803	skin:	n/a
42	chr7:57471759-57471809	AG04449	skin:	fetal
43	chr7:57471759-57471809	GM19239	blood:	n/a
44	chr7:57471759-57471809	BJ	skin:	n/a
45	chr7:57471759-57471809	HAEpiC	amniotic membrane:	n/a
46	chr7:57471759-57471809	HNPCEpiC	eye:	n/a
47	chr7:57471759-57471809	ProgFib	skin:	n/a
48	chr7:57471759-57471809	SKMC	muscle:	n/a
49	chr7:57471759-57471809	NT2-D1	testis:	n/a
50	chr7:57471759-57471809	NH-A	brain:	n/a

No data

Variant related genes	Relation type
MIR3147	TF binding region
MIR3147	CpG island

Extended variants
information (count: 39 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033128	chr7:56787535-57493216	ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1016541	chr7:56823372-57806010	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv1031261	chr7:56949355-57601047	Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
4	nsv1029803	chr7:57007829-57601047	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1019165	chr7:57065348-57659814	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
6	nsv1032599	chr7:57065348-57667279	ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
7	nsv607046	chr7:57190580-57493216	ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
8	nsv607047	chr7:57190580-57608901	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
9	nsv607048	chr7:57190580-58018981	ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
10	esv2761119	chr7:57190580-58019970	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
11	nsv1031756	chr7:57197811-57667279	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
12	nsv464484	chr7:57208666-57589803	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
13	nsv607049	chr7:57208666-57589803	Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
14	nsv520659	chr7:57208666-57868103	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
15	nsv1020026	chr7:57212585-57626147	ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
16	nsv538866	chr7:57212585-57626147	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Flanking Active 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
17	nsv1021925	chr7:57212785-57493216	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
18	nsv1027618	chr7:57212785-57493216	Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
19	nsv538867	chr7:57212785-57493216	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
20	nsv538868	chr7:57212785-57493216	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
21	nsv1017873	chr7:57244029-57882330	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
22	nsv1030369	chr7:57246268-57493216	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
23	nsv538869	chr7:57246268-57493216	Bivalent/Poised TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
24	nsv1018512	chr7:57253403-57855404	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
25	nsv538870	chr7:57253403-57855404	ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
26	nsv1017499	chr7:57253403-57886151	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
27	nsv538871	chr7:57253403-57886151	ZNF genes & repeats Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
28	nsv607050	chr7:57254647-57589803	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
29	nsv1029476	chr7:57260920-58019983	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
30	esv2752161	chr7:57275833-57919980	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
31	nsv1030441	chr7:57288140-58019983	Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
32	nsv1017492	chr7:57318828-57493216	ZNF genes & repeats Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
33	nsv538872	chr7:57318828-57493216	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
34	nsv1020184	chr7:57318828-58019983	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
35	nsv1031568	chr7:57323453-57493216	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
36	nsv1015195	chr7:57334076-58019983	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
37	nsv970846	chr7:57467707-57475411	Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
38	nsv1027062	chr7:57470632-57597142	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
39	nsv1017630	chr7:57470632-57758908	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57471200-57472000	Active TSS	Brain Anterior Caudate	brain
2	chr7:57471200-57473200	ZNF genes & repeats	Pancreas	Pancrea
3	chr7:57471200-57473200	Active TSS	Rectal Smooth Muscle	rectum
4	chr7:57471400-57471800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
5	chr7:57471400-57472000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:57471400-57472200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
7	chr7:57471400-57472600	Active TSS	Brain Cingulate Gyrus	brain
8	chr7:57471400-57472800	Active TSS	Brain Angular Gyrus	brain
9	chr7:57471400-57473000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:57471400-57473000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:57471400-57473000	ZNF genes & repeats	Gastric	stomach
12	chr7:57471400-57473200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:57471400-57473200	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr7:57471400-57473200	ZNF genes & repeats	Liver	Liver
15	chr7:57471600-57472200	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr7:57471600-57472400	ZNF genes & repeats	Brain Hippocampus Middle	brain
17	chr7:57471600-57472800	Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr7:57471600-57473000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:57471600-57473000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:57471600-57473000	Active TSS	Brain Substantia Nigra	brain
21	chr7:57471600-57473000	Active TSS	Left Ventricle	heart
22	chr7:57471600-57473000	Active TSS	Ovary	ovary
23	chr7:57471600-57473000	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr7:57471600-57473200	Active TSS	Colon Smooth Muscle	Colon
25	chr7:57471600-57473200	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr7:57471600-57473200	ZNF genes & repeats	Esophagus	oesophagus
27	chr7:57471600-57473200	Active TSS	Right Atrium	heart
28	chr7:57471600-57473400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell

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