Variant report

Variant	rs6958778
Chromosome Location	chr7:20010062-20010063
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:95)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:95 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr7:20009638-20010179	A549	lung:	n/a	n/a
2	TEAD4	chr7:20009702-20010164	HCT-116	colon:	n/a	n/a
3	USF1	chr7:20009690-20010159	A549	lung:	n/a	n/a
4	TCF12	chr7:20009636-20010202	A549	lung:	n/a	n/a
5	BCL3	chr7:20009545-20010519	A549	lung:	n/a	n/a
6	USF1	chr7:20009681-20010129	A549	lung:	n/a	n/a
7	FOXA1	chr7:20009721-20010299	T-47D	breast:	n/a	n/a
8	SIX5	chr7:20009780-20010197	A549	lung:	n/a	n/a
9	TEAD4	chr7:20009611-20010201	ECC-1	luminal epithelium:	n/a	n/a
10	JUND	chr7:20009600-20010276	HCT-116	colon:	n/a	n/a
11	FOSL2	chr7:20009718-20010170	MCF-7	breast:	n/a	n/a
12	REST	chr7:20009692-20010267	A549	lung:	n/a	n/a
13	NR2F2	chr7:20009640-20010267	MCF-7	breast:	n/a	n/a
14	JUND	chr7:20009679-20010085	A549	lung:	n/a	n/a
15	ZNF217	chr7:20009749-20010156	MCF-7	breast:	n/a	n/a
16	RAD21	chr7:20009511-20010222	A549	lung:	n/a	n/a
17	MAX	chr7:20009626-20010255	HCT-116	colon:	n/a	n/a
18	TCF12	chr7:20009673-20010143	ECC-1	luminal epithelium:	n/a	n/a
19	MAX	chr7:20009747-20010084	Hela-S3	cervix:	n/a	n/a
20	CBX3	chr7:20009570-20010247	HCT-116	colon:	n/a	n/a
21	JUND	chr7:20009645-20010263	A549	lung:	n/a	n/a
22	FOSL1	chr7:20009621-20010194	HCT-116	colon:	n/a	n/a
23	TEAD4	chr7:20009528-20010315	A549	lung:	n/a	n/a
24	NFIC	chr7:20009617-20010171	ECC-1	luminal epithelium:	n/a	n/a
25	TEAD4	chr7:20009627-20010231	A549	lung:	n/a	n/a
26	ZBTB33	chr7:20009647-20010186	A549	lung:	n/a	n/a
27	FOS	chr7:20009718-20010100	HUVEC	blood vessel:	n/a	chr7:20009906-20009917
28	SP1	chr7:20009260-20010522	A549	lung:	n/a	n/a
29	MAX	chr7:20009531-20010312	A549	lung:	n/a	n/a
30	CEBPB	chr7:20009696-20010222	A549	lung:	n/a	n/a
31	NR3C1	chr7:20009612-20010090	A549	lung:	n/a	n/a
32	CBX3	chr7:20009652-20010197	HCT-116	colon:	n/a	n/a
33	HDAC2	chr7:20009672-20010165	MCF-7	breast:	n/a	n/a
34	NR3C1	chr7:20009609-20010201	A549	lung:	n/a	n/a
35	PBX3	chr7:20009720-20010210	A549	lung:	n/a	n/a
36	USF2	chr7:20009751-20010086	Hela-S3	cervix:	n/a	chr7:20009910-20009921
37	USF1	chr7:20009731-20010158	A549	lung:	n/a	n/a
38	ATF3	chr7:20009609-20010216	A549	lung:	n/a	n/a
39	TCF7L2	chr7:20009767-20010088	MCF-7	breast:	n/a	n/a
40	PBX3	chr7:20009697-20010194	A549	lung:	n/a	n/a
41	USF1	chr7:20009632-20010157	HCT-116	colon:	n/a	n/a
42	FOXA2	chr7:20009574-20010319	A549	lung:	n/a	n/a
43	GATA2	chr7:20009733-20010105	HUVEC	blood vessel:	n/a	n/a
44	GABPA	chr7:20009648-20010213	A549	lung:	n/a	n/a
45	REST	chr7:20009536-20010513	A549	lung:	n/a	n/a
46	MAX	chr7:20009593-20010298	A549	lung:	n/a	n/a
47	TEAD4	chr7:20009606-20010141	HCT-116	colon:	n/a	n/a
48	GATA3	chr7:20009638-20010525	A549	lung:	n/a	n/a
49	USF1	chr7:20009685-20010148	A549	lung:	n/a	n/a
50	GATA3	chr7:20009474-20010331	MCF-7	breast:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000243004	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs56349870	0.85[ASN][1000 genomes]
rs6962408	0.83[AMR][1000 genomes]
rs73074665	0.90[AMR][1000 genomes];0.95[ASN][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	nsv1033223	chr7:19682192-20461375	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv538795	chr7:19682192-20461375	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv887826	chr7:19816240-20033899	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1027445	chr7:19947297-20211733	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv887830	chr7:19970584-20114589	Enhancers Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1027849	chr7:20003094-20084998	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr7:19999600-20023800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:20007200-20010400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:20007800-20024000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:20008000-20017200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:20009200-20010200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:20009200-20010800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:20009200-20010800	Enhancers	Fetal Intestine Large	intestine
8	chr7:20009200-20011000	Enhancers	Hela-S3	cervix
9	chr7:20009200-20011800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:20009400-20010800	Enhancers	HUVEC	blood vessel
11	chr7:20009600-20010200	Active TSS	A549	lung
12	chr7:20009600-20010800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:20009600-20010800	Enhancers	HMEC	breast
14	chr7:20009600-20011000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:20009800-20010200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:20009800-20010200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:20009800-20010200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr7:20009800-20010200	Enhancers	NH-A	brain
19	chr7:20009800-20010600	Enhancers	Stomach Mucosa	stomach
20	chr7:20009800-20010600	Flanking Active TSS	NHEK	skin
21	chr7:20009800-20010800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr7:20009800-20010800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:20009800-20010800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:20009800-20010800	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr7:20010000-20010200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr7:20010000-20010200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:20010000-20010800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr7:20010000-20010800	Enhancers	Fetal Intestine Small	intestine

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