Variant report

Variant	rs7996717
Chromosome Location	chr13:48828531-48828532
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:48807403..48809674-chr13:48828409..48830579,2	K562	blood:
2	chr13:48825760..48827717-chr13:48828186..48830367,2	MCF-7	breast:
3	chr13:48818705..48820484-chr13:48828248..48829795,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1002865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11556899	1.00[ASN][1000 genomes]
rs3092888	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs34692420	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4151434	1.00[CEU][hapmap]
rs4151442	1.00[CEU][hapmap]
rs4151448	1.00[CEU][hapmap]
rs4151452	1.00[CEU][hapmap]
rs4151456	1.00[CEU][hapmap]
rs4151474	1.00[CEU][hapmap]
rs4151525	1.00[CEU][hapmap]
rs56835880	1.00[EUR][1000 genomes]
rs56955865	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60372626	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61683759	1.00[EUR][1000 genomes]
rs73485077	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73485079	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73487048	1.00[EUR][1000 genomes]
rs73487051	1.00[EUR][1000 genomes]
rs73487055	1.00[EUR][1000 genomes]
rs73487056	1.00[EUR][1000 genomes]
rs73487058	1.00[EUR][1000 genomes]
rs7983535	1.00[EUR][1000 genomes]
rs7986777	1.00[EUR][1000 genomes]
rs7993670	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7999809	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8002352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8002765	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9332246	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];1.00[ASN][1000 genomes]
rs9332278	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs9332285	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9332304	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595874	0.94[ASN][1000 genomes]
rs9595875	0.94[ASN][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	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer 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	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48808400-48829000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:48808400-48829200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:48808400-48843600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:48809600-48837400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr13:48809800-48829200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:48810400-48830200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr13:48810800-48841000	Weak transcription	Hela-S3	cervix
8	chr13:48811200-48843800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr13:48811600-48829000	Weak transcription	Colonic Mucosa	Colon
10	chr13:48811600-48829600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr13:48811600-48835600	Weak transcription	Fetal Brain Male	brain
12	chr13:48811600-48836800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr13:48813400-48829600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr13:48818600-48828800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr13:48823200-48832800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr13:48823400-48833200	Weak transcription	Small Intestine	intestine
17	chr13:48825200-48834000	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr13:48825200-48837000	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr13:48825400-48836800	Strong transcription	Primary B cells from peripheral blood	blood
20	chr13:48825400-48841200	Strong transcription	Fetal Thymus	thymus
21	chr13:48825400-48844400	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr13:48825600-48828800	Weak transcription	Brain Angular Gyrus	brain
23	chr13:48825600-48829400	Weak transcription	Brain Germinal Matrix	brain
24	chr13:48825800-48829400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr13:48825800-48837400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr13:48826200-48840000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr13:48826400-48830200	Weak transcription	Brain Substantia Nigra	brain
28	chr13:48826400-48841200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr13:48826600-48829200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr13:48826600-48833400	Weak transcription	Psoas Muscle	Psoas
31	chr13:48826600-48837000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr13:48826800-48829000	Weak transcription	Pancreas	Pancrea
33	chr13:48826800-48829000	Weak transcription	Spleen	Spleen
34	chr13:48826800-48829400	Weak transcription	Right Ventricle	heart
35	chr13:48826800-48832200	Weak transcription	NHLF	lung
36	chr13:48826800-48837400	Weak transcription	Right Atrium	heart
37	chr13:48826800-48842000	Weak transcription	K562	blood
38	chr13:48827000-48828600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr13:48827200-48830200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr13:48827400-48829000	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr13:48827400-48833200	Strong transcription	Primary T cells from cord blood	blood
42	chr13:48827400-48836600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr13:48827400-48836800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr13:48827400-48840200	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr13:48827600-48828600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
46	chr13:48827600-48828600	Enhancers	Fetal Intestine Small	intestine
47	chr13:48827600-48831200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
48	chr13:48827600-48831200	Strong transcription	Thymus	Thymus
49	chr13:48827600-48832200	Strong transcription	Fetal Kidney	kidney
50	chr13:48827600-48832600	Strong transcription	HUVEC	blood vessel

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