Variant report

Variant	rs16880073
Chromosome Location	chr7:39646333-39646334
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	GATA1	chr7:39645994-39646740	PBDE	blood:	n/a	chr7:39646194-39646203

No.	Distal block	Cell Line	Cell type
1	chr7:39643975..39649260-chr7:39661579..39666438,6	K562	blood:
2	chr7:39645097..39647250-chr7:39658816..39661772,2	MCF-7	breast:
3	chr7:39646267..39647952-chr7:39648806..39651030,2	K562	blood:
4	chr7:39640592..39642673-chr7:39644409..39647009,2	K562	blood:
5	chr7:39643975..39646348-chr7:39661579..39664353,2	K562	blood:

Variant related genes	Relation type
ENSG00000106540	TF binding region
ENSG00000231951	Chromatin interaction
ENSG00000106540	Chromatin interaction
ENSG00000006451	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10486797	0.89[AMR][1000 genomes]
rs11983705	1.00[EUR][1000 genomes]
rs11983755	1.00[EUR][1000 genomes]
rs16870185	0.82[EUR][1000 genomes]
rs16880070	0.82[EUR][1000 genomes]
rs17171605	1.00[EUR][1000 genomes]
rs17171606	1.00[EUR][1000 genomes]
rs2329409	1.00[EUR][1000 genomes]
rs2876857	1.00[EUR][1000 genomes]
rs2876859	1.00[EUR][1000 genomes]
rs2876860	1.00[EUR][1000 genomes]
rs4236361	1.00[EUR][1000 genomes]
rs4236362	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4236363	1.00[EUR][1000 genomes]
rs4374892	0.95[AMR][1000 genomes]
rs4720332	0.90[EUR][1000 genomes]
rs4723886	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4723890	0.90[EUR][1000 genomes]
rs4723896	0.82[EUR][1000 genomes]
rs56844739	1.00[EUR][1000 genomes]
rs56895888	1.00[EUR][1000 genomes]
rs59434915	0.90[EUR][1000 genomes]
rs60565944	0.82[EUR][1000 genomes]
rs6948816	0.90[EUR][1000 genomes]
rs6949371	0.90[EUR][1000 genomes]
rs6963428	0.90[EUR][1000 genomes]
rs73377388	1.00[EUR][1000 genomes]
rs73379304	1.00[EUR][1000 genomes]
rs73689214	0.90[EUR][1000 genomes]
rs73689251	0.90[EUR][1000 genomes]
rs73689252	0.90[EUR][1000 genomes]
rs73689294	0.82[EUR][1000 genomes]
rs7788924	0.90[EUR][1000 genomes]
rs7789326	0.82[EUR][1000 genomes]
rs7805611	0.90[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887970	chr7:39587912-39688152	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39638400-39646400	Weak transcription	Stomach Mucosa	stomach
2	chr7:39642200-39648200	Weak transcription	NH-A	brain
3	chr7:39642400-39647800	Weak transcription	NHDF-Ad	bronchial
4	chr7:39642400-39647800	Weak transcription	Osteobl	bone
5	chr7:39642400-39648000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:39642600-39648600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:39643000-39648400	Enhancers	HUVEC	blood vessel
8	chr7:39643400-39649000	Enhancers	Primary T cells from cord blood	blood
9	chr7:39643800-39647000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:39643800-39649200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr7:39644000-39648000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr7:39644000-39648600	Enhancers	HMEC	breast
13	chr7:39644400-39649000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:39644600-39646800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr7:39644600-39649000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr7:39644600-39649000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr7:39644600-39649000	Enhancers	NHEK	skin
18	chr7:39644800-39649800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:39645000-39646800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:39645200-39647200	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr7:39645200-39647200	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr7:39645200-39647800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:39645200-39647800	Weak transcription	NHLF	lung
24	chr7:39645200-39648600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr7:39645200-39649400	Weak transcription	HSMMtube	muscle
26	chr7:39645200-39661600	Weak transcription	A549	lung
27	chr7:39645400-39647800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:39645400-39647800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr7:39645400-39648000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr7:39645400-39648000	Weak transcription	Small Intestine	intestine
31	chr7:39645400-39648000	Weak transcription	HSMM	muscle
32	chr7:39645400-39648600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:39645400-39649000	Weak transcription	Fetal Intestine Large	intestine
34	chr7:39645400-39649000	Weak transcription	Left Ventricle	heart
35	chr7:39645400-39649000	Weak transcription	Psoas Muscle	Psoas
36	chr7:39645800-39648600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:39646000-39646600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr7:39646000-39646800	Enhancers	K562	blood
39	chr7:39646000-39649000	Weak transcription	Fetal Heart	heart
40	chr7:39646200-39646800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr7:39646200-39647000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:39646200-39648800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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