Variant report

Variant	rs570033885
Chromosome Location	chr7:84177954-84177955
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXM1	chr7:84177399-84178593	ECC-1	luminal epithelium:	n/a	n/a
2	EP300	chr7:84177433-84178583	ECC-1	luminal epithelium:	n/a	chr7:84178108-84178117
3	TCF12	chr7:84177398-84178592	ECC-1	luminal epithelium:	n/a	n/a
4	CEBPB	chr7:84177667-84178429	ECC-1	luminal epithelium:	n/a	chr7:84178224-84178237 chr7:84178225-84178236
5	TEAD4	chr7:84177533-84178023	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr7:84177545-84178000	ECC-1	luminal epithelium:	n/a	n/a
7	CEBPB	chr7:84177668-84178447	ECC-1	luminal epithelium:	n/a	chr7:84178224-84178237 chr7:84178225-84178236
8	ESR1	chr7:84177601-84178005	ECC-1	luminal epithelium:	n/a	n/a
9	NFIC	chr7:84177574-84178190	ECC-1	luminal epithelium:	n/a	n/a
10	PBX3	chr7:84177567-84178131	SK-N-SH	brain:	n/a	n/a
11	TEAD4	chr7:84177582-84178348	ECC-1	luminal epithelium:	n/a	n/a
12	EP300	chr7:84177491-84178213	ECC-1	luminal epithelium:	n/a	chr7:84178108-84178117
13	NFIC	chr7:84177424-84178517	ECC-1	luminal epithelium:	n/a	n/a
14	TCF12	chr7:84177524-84178209	ECC-1	luminal epithelium:	n/a	n/a
15	TEAD4	chr7:84177517-84178476	ECC-1	luminal epithelium:	n/a	n/a
16	BCL11A	chr7:84177692-84177958	H1-hESC	embryonic stem cell:	n/a	n/a
17	TCF7L2	chr7:84177681-84178668	PANC-1	pancreas:	n/a	n/a
18	TEAD4	chr7:84177633-84178001	H1-hESC	embryonic stem cell:	n/a	n/a
19	FOXM1	chr7:84177605-84178313	ECC-1	luminal epithelium:	n/a	n/a
20	RAD21	chr7:84177535-84178047	ECC-1	luminal epithelium:	n/a	n/a
21	ESR1	chr7:84177591-84178021	ECC-1	luminal epithelium:	n/a	n/a
22	ESR1	chr7:84177640-84177979	ECC-1	luminal epithelium:	n/a	n/a
23	NANOG	chr7:84177660-84177985	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:84177905-84177955	HIPEpiC	eye:	n/a
2	chr7:84177905-84177955	HEEpiC	esophagus:	n/a
3	chr7:84177905-84177955	MCF-7	breast:	n/a
4	chr7:84177905-84177955	HRCEpiC	kidney:	n/a
5	chr7:84177905-84177955	NB4	blood:	n/a
6	chr7:84177905-84177955	HL-60	blood:	n/a
7	chr7:84177905-84177955	HEK293	kidney:	embryo
8	chr7:84177905-84177955	Caco-2	colon:	n/a
9	chr7:84177905-84177955	NH-A	brain:	n/a
10	chr7:84177905-84177955	HAEpiC	amniotic membrane:	n/a
11	chr7:84177905-84177955	GM06990	blood:	n/a
12	chr7:84177905-84177955	HepG2	liver:	n/a
13	chr7:84177905-84177955	H1-hESC	embryonic stem cell:	embryo
14	chr7:84177905-84177955	AG09319	gingival:	n/a
15	chr7:84177905-84177955	HCPEpiC	choroid plexus:	n/a
16	chr7:84177905-84177955	SKMC	muscle:	n/a
17	chr7:84177905-84177955	HRE	kidney:	n/a
18	chr7:84177905-84177955	T-47D	breast:	n/a
19	chr7:84177905-84177955	K562	blood:	n/a
20	chr7:84177905-84177955	NHDF-neo	bronchial:	n/a
21	chr7:84177905-84177955	GM12892	blood:	n/a
22	chr7:84177905-84177955	AG04450	lung:	fetal
23	chr7:84177905-84177955	A549	lung:	n/a
24	chr7:84177905-84177955	PrEC	prostate:	n/a
25	chr7:84177905-84177955	Hela-S3	cervix:	n/a
26	chr7:84177905-84177955	GM12878	blood:	n/a
27	chr7:84177905-84177955	LNCaP	prostate:	n/a
28	chr7:84177905-84177955	HNPCEpiC	eye:	n/a
29	chr7:84177905-84177955	HPAEpiC	pulmonary alveolar:	n/a
30	chr7:84177905-84177955	GM12891	blood:	n/a
31	chr7:84177905-84177955	AG10803	skin:	n/a
32	chr7:84177905-84177955	GM19239	blood:	n/a
33	chr7:84177905-84177955	IMR90	lung:	fetal
34	chr7:84177905-84177955	HUVEC	blood vessel:	n/a
35	chr7:84177905-84177955	NHBE	bronchial:	n/a
36	chr7:84177905-84177955	SAEC	small airway:	n/a
37	chr7:84177905-84177955	NT2-D1	testis:	n/a
38	chr7:84177905-84177955	ProgFib	skin:	n/a
39	chr7:84177905-84177955	PFSK-1	brain:	n/a
40	chr7:84177905-84177955	ECC-1	luminal epithelium:	n/a
41	chr7:84177905-84177955	HCT-116	colon:	n/a
42	chr7:84177905-84177955	RPTEC	kidney:	n/a
43	chr7:84177905-84177955	AG04449	skin:	fetal
44	chr7:84177905-84177955	AG09309	skin:	n/a
45	chr7:84177905-84177955	ovcar-3	ovarian:	n/a
46	chr7:84177905-84177955	BJ	skin:	n/a
47	chr7:84177905-84177955	HRPEpiC	eye:	n/a
48	chr7:84177905-84177955	U87	brain:	n/a
49	chr7:84177905-84177955	SK-N-MC	brain:	n/a
50	chr7:84177905-84177955	CMK	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:84170149..84172689-chr7:84175115..84178110,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000235139	TF binding region
ENSG00000235139	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	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv949446	chr7:84003501-84763823	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv888634	chr7:84086502-84196258	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv888635	chr7:84086502-84344258	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv888636	chr7:84117594-84334498	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv888637	chr7:84137622-84213008	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv464620	chr7:84141077-84289915	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv607711	chr7:84141077-84289915	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1031149	chr7:84144990-84404356	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv888638	chr7:84158180-84334498	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv888639	chr7:84158180-84344258	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv5821	chr7:84159713-84204468	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv1019542	chr7:84162664-84200815	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv888640	chr7:84168615-84334498	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv888641	chr7:84168615-84453100	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv1017124	chr7:84171466-84318984	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv1023333	chr7:84175381-84318984	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	nsv1021928	chr7:84175489-84309555	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
19	nsv607712	chr7:84176289-84318483	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
20	nsv607713	chr7:84176289-84323511	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
21	nsv971216	chr7:84176942-84179135	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84176000-84181800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:84176800-84179000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:84177000-84178000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr7:84177000-84178600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:84177000-84178600	Enhancers	HSMM	muscle
6	chr7:84177000-84178800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:84177000-84178800	Enhancers	Colon Smooth Muscle	Colon
8	chr7:84177000-84179200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr7:84177200-84178200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:84177200-84178600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr7:84177200-84178800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr7:84177200-84179000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr7:84177200-84179200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:84177200-84179200	Enhancers	Fetal Heart	heart
15	chr7:84177200-84179200	Enhancers	Fetal Lung	lung
16	chr7:84177400-84178200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:84177400-84178600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:84177400-84178600	Enhancers	NH-A	brain
19	chr7:84177400-84178800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:84177400-84179200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:84177600-84178000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:84177600-84178400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:84177600-84178600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr7:84177600-84179000	Enhancers	HSMMtube	muscle
25	chr7:84177800-84178600	Enhancers	NHLF	lung
26	chr7:84177800-84178600	Enhancers	Osteobl	bone

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