Variant report

Variant	rs7693037
Chromosome Location	chr4:69770779-69770780
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:69770700-69770850	NHEK	skin:	n/a	n/a
2	CTCF	chr4:69770405-69770805	GM12878	blood:	n/a	n/a
3	CTCF	chr4:69770640-69770790	AG04450	lung:	n/a	n/a
4	RAD21	chr4:69770392-69770849	H1-hESC	embryonic stem cell:	n/a	n/a
5	RAD21	chr4:69770410-69770789	HepG2	liver:	n/a	n/a
6	CTCF	chr4:69770760-69770910	HA-sp	spinal cord:	n/a	n/a
7	CTCF	chr4:69770476-69770836	H1-hESC	embryonic stem cell:	n/a	n/a
8	TBL1XR1	chr4:69770567-69770910	GM12878	blood:	n/a	n/a
9	RAD21	chr4:69770333-69770942	MCF-7	breast:	n/a	n/a
10	ZNF143	chr4:69770427-69770862	H1-hESC	embryonic stem cell:	n/a	n/a
11	RAD21	chr4:69770478-69770849	GM12878	blood:	n/a	n/a
12	CHD2	chr4:69770494-69770785	H1-hESC	embryonic stem cell:	n/a	n/a
13	EBF1	chr4:69770565-69770820	GM12878	blood:	n/a	n/a
14	SP1	chr4:69770508-69770962	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr4:69770680-69770830	HMEC	breast:	n/a	n/a
16	CTCF	chr4:69770412-69770793	HepG2	liver:	n/a	n/a
17	WRNIP1	chr4:69770460-69771008	GM12878	blood:	n/a	n/a
18	FOXA1	chr4:69770613-69770939	T-47D	breast:	n/a	n/a
19	FOXA1	chr4:69770545-69770942	T-47D	breast:	n/a	n/a
20	MXI1	chr4:69770466-69770838	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr4:69770640-69770790	HCT-116	colon:	n/a	n/a
22	POLR2A	chr4:69770662-69770978	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr4:69770676-69772547	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr4:69770501-69772602	MCF-7	breast:	n/a	n/a
25	RAD21	chr4:69770341-69770879	HepG2	liver:	n/a	n/a
26	RAD21	chr4:69770324-69770915	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr4:69770373-69770809	MCF-7	breast:	n/a	n/a
28	CTCF	chr4:69770374-69770869	MCF-7	breast:	n/a	n/a
29	RAD21	chr4:69770423-69770907	H1-hESC	embryonic stem cell:	n/a	n/a
30	RAD21	chr4:69770374-69770896	MCF-7	breast:	n/a	n/a
31	CHD2	chr4:69770434-69770964	GM12878	blood:	n/a	n/a
32	SMC3	chr4:69770479-69770858	GM12878	blood:	n/a	n/a
33	ZNF384	chr4:69770637-69770826	GM12878	blood:	n/a	n/a
34	TCF12	chr4:69770641-69770960	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35810366..35811287-chr4:69770665..69771581,2	MCF-7	breast:
2	chr4:69755920..69758085-chr4:69768537..69771437,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000248613	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11726946	0.90[EUR][1000 genomes]
rs11730594	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12650679	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12651295	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12651473	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1458247	0.82[EUR][1000 genomes]
rs2670430	0.84[EUR][1000 genomes]
rs6827243	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6851328	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6857353	0.81[EUR][1000 genomes]
rs6858469	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7665417	0.83[EUR][1000 genomes]
rs7668868	0.83[EUR][1000 genomes]
rs7678798	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7681837	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7682207	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7691369	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005513	chr4:69446718-69890307	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv999654	chr4:69661415-70132110	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv879377	chr4:69663003-69771935	Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv879378	chr4:69673775-69771935	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3420586	chr4:69680878-70322918	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	esv3398036	chr4:69700493-69841391	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1067773	chr4:69718248-70715727	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	esv3468151	chr4:69718675-70322776	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
9	esv3468153	chr4:69718675-70322776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
10	nsv436447	chr4:69743339-69851390	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv518690	chr4:69752468-69772694	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv4372	chr4:69764499-69810115	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69769400-69773400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:69769600-69771000	Active TSS	Duodenum Mucosa	Duodenum
3	chr4:69769600-69771600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr4:69769600-69773200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:69769800-69770800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr4:69769800-69771000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr4:69769800-69771000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr4:69769800-69771600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr4:69769800-69772200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:69769800-69772400	Enhancers	Placenta	Placenta
11	chr4:69770000-69770800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr4:69770000-69770800	Active TSS	Pancreas	Pancrea
13	chr4:69770000-69771000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr4:69770000-69771000	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr4:69770000-69771000	Active TSS	Stomach Smooth Muscle	stomach
16	chr4:69770000-69771200	Enhancers	H9 Cell Line	embryonic stem cell
17	chr4:69770000-69771200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr4:69770000-69772200	Active TSS	Rectal Smooth Muscle	rectum
19	chr4:69770000-69773000	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr4:69770200-69770800	Active TSS	Brain Substantia Nigra	brain
21	chr4:69770200-69770800	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr4:69770200-69771000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:69770200-69771000	Active TSS	Brain Hippocampus Middle	brain
24	chr4:69770200-69771000	Active TSS	Colonic Mucosa	Colon
25	chr4:69770200-69771000	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr4:69770200-69771200	Enhancers	Colon Smooth Muscle	Colon
27	chr4:69770200-69771400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr4:69770200-69771600	Flanking Active TSS	Fetal Intestine Small	intestine
29	chr4:69770200-69771600	Enhancers	Fetal Muscle Leg	muscle
30	chr4:69770200-69771800	Enhancers	Fetal Lung	lung
31	chr4:69770200-69771800	Enhancers	Placenta Amnion	Placenta Amnion
32	chr4:69770400-69770800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:69770400-69770800	Active TSS	Liver	Liver
34	chr4:69770400-69771000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr4:69770400-69771000	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr4:69770400-69771000	Flanking Active TSS	Fetal Intestine Large	intestine
37	chr4:69770400-69771000	Active TSS	Osteobl	bone
38	chr4:69770400-69771200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:69770400-69771400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr4:69770400-69771400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:69770400-69771400	Enhancers	Esophagus	oesophagus
42	chr4:69770400-69771600	Flanking Active TSS	Stomach Mucosa	stomach
43	chr4:69770400-69771800	Enhancers	Fetal Kidney	kidney
44	chr4:69770400-69772400	Enhancers	HepG2	liver
45	chr4:69770600-69770800	Active TSS	Fetal Stomach	stomach
46	chr4:69770600-69770800	Active TSS	GM12878-XiMat	blood
47	chr4:69770600-69770800	Active TSS	HMEC	breast
48	chr4:69770600-69771000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr4:69770600-69772800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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