Variant report

Variant	rs72917987
Chromosome Location	chr4:122758098-122758099
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:122756267..122758297-chr4:122759225..122760978,2	K562	blood:
2	chr4:122738481..122743178-chr4:122755904..122760615,4	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11930245	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11930756	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11933339	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11934168	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11942369	1.00[EUR][1000 genomes]
rs1507987	0.83[AMR][1000 genomes]
rs1507988	0.83[AMR][1000 genomes]
rs17005269	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17005276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2661556	0.83[AMR][1000 genomes]
rs2706797	0.83[AMR][1000 genomes]
rs3217770	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34669312	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3811743	0.83[AMR][1000 genomes]
rs4001033	0.83[AMR][1000 genomes]
rs4132552	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61639241	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6845842	1.00[EUR][1000 genomes]
rs72915930	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915936	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915942	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915943	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915957	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915958	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72918000	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919903	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs769235	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs769240	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122745400-122767200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:122745400-122777600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:122745400-122790400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:122745400-122790600	Weak transcription	Small Intestine	intestine
5	chr4:122745600-122758600	Weak transcription	Fetal Kidney	kidney
6	chr4:122745600-122759800	Weak transcription	Fetal Thymus	thymus
7	chr4:122745600-122760400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:122745600-122762000	Weak transcription	Aorta	Aorta
9	chr4:122745600-122764000	Weak transcription	Colonic Mucosa	Colon
10	chr4:122745600-122766200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr4:122745600-122766600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:122745600-122767200	Weak transcription	Esophagus	oesophagus
13	chr4:122745600-122767200	Weak transcription	Right Ventricle	heart
14	chr4:122745600-122767800	Weak transcription	Pancreas	Pancrea
15	chr4:122745600-122767800	Weak transcription	Thymus	Thymus
16	chr4:122745600-122769200	Weak transcription	Hela-S3	cervix
17	chr4:122745600-122770000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr4:122745600-122781600	Weak transcription	Placenta	Placenta
19	chr4:122745600-122790400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr4:122745600-122790600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr4:122745600-122790800	Weak transcription	Psoas Muscle	Psoas
22	chr4:122745800-122758400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr4:122745800-122758800	Weak transcription	HUVEC	blood vessel
24	chr4:122745800-122759800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr4:122745800-122761600	Weak transcription	Brain Substantia Nigra	brain
26	chr4:122745800-122764000	Weak transcription	Brain Hippocampus Middle	brain
27	chr4:122745800-122765600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr4:122745800-122765600	Weak transcription	Fetal Heart	heart
29	chr4:122745800-122766600	Weak transcription	Fetal Brain Male	brain
30	chr4:122745800-122766600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr4:122745800-122766800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr4:122745800-122767200	Weak transcription	HSMMtube	muscle
33	chr4:122745800-122767400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr4:122745800-122768600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:122745800-122770200	Weak transcription	GM12878-XiMat	blood
36	chr4:122745800-122772000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr4:122745800-122779200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr4:122745800-122781200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr4:122745800-122786800	Weak transcription	A549	lung
40	chr4:122745800-122790200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr4:122745800-122790400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr4:122745800-122790400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr4:122745800-122790400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr4:122745800-122790800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr4:122747400-122761000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:122748400-122762800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:122749200-122764600	Weak transcription	NH-A	brain
48	chr4:122749400-122764000	Weak transcription	NHLF	lung
49	chr4:122750200-122773600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:122750600-122762600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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