Variant report

Variant	rs7682207
Chromosome Location	chr4:69771283-69771284
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr4:69771275-69772446	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr4:69771259-69771864	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr4:69771223-69772468	H1-hESC	embryonic stem cell:	n/a	n/a
4	YY1	chr4:69771279-69771811	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD1	chr4:69771227-69771760	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr4:69770676-69772547	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr4:69770501-69772602	MCF-7	breast:	n/a	n/a
8	POLR2A	chr4:69771020-69771346	H1-neurons	neurons:	n/a	n/a
9	SP1	chr4:69771282-69772428	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:69213512..69216500-chr4:69770884..69773457,2	MCF-7	breast:
2	chr14:35810366..35811287-chr4:69770665..69771581,2	MCF-7	breast:
3	chr4:69755920..69758085-chr4:69768537..69771437,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000248613	TF binding region
ENSG00000083896	Chromatin interaction

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	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12650679	0.99[EUR][1000 genomes]
rs12651295	0.99[EUR][1000 genomes]
rs12651473	0.98[EUR][1000 genomes]
rs1458247	0.82[EUR][1000 genomes]
rs2670430	0.84[EUR][1000 genomes]
rs6827243	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6851328	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6857353	0.81[EUR][1000 genomes]
rs6858469	0.95[EUR][1000 genomes]
rs7665417	0.83[EUR][1000 genomes]
rs7668868	0.83[EUR][1000 genomes]
rs7678798	0.95[EUR][1000 genomes]
rs7681837	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7691369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7693037	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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69769400-69773400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:69769600-69771600	Enhancers	H1 Cell Line	embryonic stem cell
3	chr4:69769600-69773200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:69769800-69771600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr4:69769800-69772200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:69769800-69772400	Enhancers	Placenta	Placenta
7	chr4:69770000-69772200	Active TSS	Rectal Smooth Muscle	rectum
8	chr4:69770000-69773000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr4:69770200-69771400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr4:69770200-69771600	Flanking Active TSS	Fetal Intestine Small	intestine
11	chr4:69770200-69771600	Enhancers	Fetal Muscle Leg	muscle
12	chr4:69770200-69771800	Enhancers	Fetal Lung	lung
13	chr4:69770200-69771800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr4:69770400-69771400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr4:69770400-69771400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:69770400-69771400	Enhancers	Esophagus	oesophagus
17	chr4:69770400-69771600	Flanking Active TSS	Stomach Mucosa	stomach
18	chr4:69770400-69771800	Enhancers	Fetal Kidney	kidney
19	chr4:69770400-69772400	Enhancers	HepG2	liver
20	chr4:69770600-69772800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:69770800-69771600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr4:69770800-69771600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:69770800-69771600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:69770800-69771600	Flanking Active TSS	Liver	Liver
25	chr4:69770800-69771600	Flanking Active TSS	Pancreas	Pancrea
26	chr4:69770800-69771600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr4:69770800-69771800	Flanking Active TSS	Fetal Stomach	stomach
28	chr4:69771000-69771400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr4:69771000-69771400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr4:69771000-69771400	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr4:69771000-69771400	Enhancers	Fetal Intestine Large	intestine
32	chr4:69771000-69771400	Enhancers	Ovary	ovary
33	chr4:69771000-69771400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr4:69771000-69771400	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr4:69771000-69771600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr4:69771000-69771600	Flanking Active TSS	Colonic Mucosa	Colon
37	chr4:69771000-69771800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr4:69771000-69771800	Enhancers	Brain Hippocampus Middle	brain
39	chr4:69771000-69771800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr4:69771000-69771800	Enhancers	Brain Substantia Nigra	brain
41	chr4:69771000-69771800	Enhancers	Fetal Thymus	thymus
42	chr4:69771000-69772200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr4:69771000-69772200	Enhancers	Fetal Brain Female	brain
44	chr4:69771200-69771400	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr4:69771200-69771400	Enhancers	A549	lung
46	chr4:69771200-69771400	Active TSS	GM12878-XiMat	blood
47	chr4:69771200-69771600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr4:69771200-69771600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr4:69771200-69771800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr4:69771200-69771800	Flanking Active TSS	Colon Smooth Muscle	Colon

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