Variant report

Variant	rs7676865
Chromosome Location	chr4:88296588-88296589
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:88296173-88296613	A549	lung:	n/a	chr4:88296395-88296406 chr4:88296394-88296405 chr4:88296494-88296507 chr4:88296394-88296405
2	STAT3	chr4:88296161-88296591	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr4:88296570-88296603	MCF10A-Er-Src	breast:	n/a	n/a
4	CEBPB	chr4:88296198-88296626	MCF-7	breast:	n/a	chr4:88296395-88296406 chr4:88296394-88296405 chr4:88296494-88296507 chr4:88296394-88296405
5	RCOR1	chr4:88295938-88296626	IMR90	lung:	n/a	n/a
6	CTCF	chr4:88296380-88297458	A549	lung:	n/a	chr4:88297028-88297049 chr4:88297026-88297044
7	FOSL2	chr4:88296144-88296595	A549	lung:	n/a	n/a
8	CEBPB	chr4:88296169-88296599	IMR90	lung:	n/a	chr4:88296395-88296406 chr4:88296394-88296405 chr4:88296494-88296507 chr4:88296394-88296405

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:88294120..88296895-chr4:88310582..88312667,2	K562	blood:
2	chr4:88293477..88300868-chr4:88308814..88313684,7	K562	blood:

Variant related genes	Relation type
HSD17B11	TF binding region
ENSG00000198189	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10010424	0.81[ASN][1000 genomes]
rs12649023	0.94[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs13112695	0.93[CHB][hapmap]
rs4422389	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6531975	0.93[CHB][hapmap]
rs6531977	0.93[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs7667870	0.85[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7667924	0.93[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7688962	0.85[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7699556	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004518	chr4:88218473-88354403	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1002789	chr4:88239340-88606485	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88254800-88311800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:88256200-88310600	Weak transcription	Right Ventricle	heart
3	chr4:88257800-88311800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:88267400-88308000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr4:88267800-88306000	Weak transcription	Fetal Brain Female	brain
6	chr4:88271200-88298000	Weak transcription	HSMMtube	muscle
7	chr4:88273400-88298800	Weak transcription	Fetal Heart	heart
8	chr4:88274400-88297000	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr4:88274400-88303400	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr4:88274600-88296600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr4:88274600-88297200	Strong transcription	Fetal Intestine Large	intestine
12	chr4:88274800-88298200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr4:88275200-88299400	Strong transcription	Dnd41	blood
14	chr4:88276200-88311400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:88276400-88302800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:88278800-88297200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr4:88279800-88297200	Strong transcription	Duodenum Mucosa	Duodenum
18	chr4:88282600-88303200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr4:88283400-88296600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:88284800-88296600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr4:88285200-88298000	Weak transcription	NH-A	brain
22	chr4:88286800-88297000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:88287400-88308000	Weak transcription	Spleen	Spleen
24	chr4:88287600-88297400	Strong transcription	Primary B cells from cord blood	blood
25	chr4:88288000-88299400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr4:88288400-88296800	Strong transcription	HepG2	liver
27	chr4:88288600-88297200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:88289400-88297200	Strong transcription	Fetal Intestine Small	intestine
29	chr4:88289600-88296800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:88289800-88297000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:88290400-88305600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr4:88290800-88301800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:88291000-88306000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr4:88291000-88309000	Weak transcription	Right Atrium	heart
35	chr4:88292400-88297400	Strong transcription	K562	blood
36	chr4:88293000-88304800	Weak transcription	Brain Germinal Matrix	brain
37	chr4:88293000-88306800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr4:88293000-88307200	Weak transcription	Pancreas	Pancrea
39	chr4:88293000-88307600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr4:88293000-88308000	Weak transcription	Colonic Mucosa	Colon
41	chr4:88293000-88308800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr4:88293000-88309600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr4:88293000-88311200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr4:88293200-88296600	Weak transcription	Stomach Mucosa	stomach
45	chr4:88293200-88297000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr4:88293200-88297000	Weak transcription	Brain Substantia Nigra	brain
47	chr4:88293200-88302000	Weak transcription	Ovary	ovary
48	chr4:88293200-88308000	Weak transcription	Left Ventricle	heart
49	chr4:88293200-88309600	Weak transcription	Brain Hippocampus Middle	brain
50	chr4:88293200-88309600	Weak transcription	Gastric	stomach

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