Variant report

Variant	rs16847689
Chromosome Location	chr1:174976184-174976185
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:174973206..174975199-chr1:174975855..174978492,3	MCF-7	breast:
2	chr1:174968308..174972682-chr1:174973669..174977278,7	MCF-7	breast:
3	chr1:174966455..174979047-chr1:174985921..174994239,29	MCF-7	breast:
4	chr1:174975701..174977916-chr1:174990172..174992601,2	MCF-7	breast:
5	chr1:174966903..174971287-chr1:174971534..174977740,10	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RABGAP1L-2	chr1:174975719-174976333	NONHSAT007747

No data

Variant related genes	Relation type
ENSG00000116161	Chromatin interaction
ENSG00000206659	Chromatin interaction
ENSG00000120333	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10489331	1.00[EUR][1000 genomes]
rs10489334	1.00[EUR][1000 genomes]
rs10912852	1.00[EUR][1000 genomes]
rs10912862	1.00[EUR][1000 genomes]
rs10912866	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912869	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12061403	1.00[EUR][1000 genomes]
rs12062145	1.00[EUR][1000 genomes]
rs12072529	1.00[EUR][1000 genomes]
rs12075140	1.00[EUR][1000 genomes]
rs12089375	1.00[EUR][1000 genomes]
rs13376513	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847652	1.00[EUR][1000 genomes]
rs16847670	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847701	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1894679	1.00[EUR][1000 genomes]
rs4650677	1.00[EUR][1000 genomes]
rs57512007	1.00[EUR][1000 genomes]
rs58503437	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60411387	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6425311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6689751	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74128526	1.00[EUR][1000 genomes]
rs74128530	1.00[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	nsv1001000	chr1:174944208-174978853	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174969800-174981600	Weak transcription	Gastric	stomach
2	chr1:174970000-174977000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:174970000-174977200	Weak transcription	Lung	lung
4	chr1:174970000-174977200	Weak transcription	Pancreas	Pancrea
5	chr1:174970000-174982400	Weak transcription	Esophagus	oesophagus
6	chr1:174970000-174991800	Weak transcription	Stomach Mucosa	stomach
7	chr1:174970200-174976600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:174970200-174977000	Weak transcription	Colonic Mucosa	Colon
9	chr1:174970200-174981200	Weak transcription	Right Ventricle	heart
10	chr1:174970400-174976800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:174970400-174977200	Weak transcription	Aorta	Aorta
12	chr1:174970600-174977200	Weak transcription	Fetal Stomach	stomach
13	chr1:174970600-174981800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:174970800-174976800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:174970800-174977200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:174970800-174980800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:174970800-174986000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:174971000-174991600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:174971200-174976400	Weak transcription	Spleen	Spleen
20	chr1:174971200-174976400	Weak transcription	HUVEC	blood vessel
21	chr1:174971200-174977200	Weak transcription	Brain Germinal Matrix	brain
22	chr1:174971600-174977200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:174971800-174977800	Weak transcription	Fetal Heart	heart
24	chr1:174972000-174981000	Weak transcription	Fetal Intestine Small	intestine
25	chr1:174972200-174976400	Weak transcription	NHLF	lung
26	chr1:174972200-174977400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr1:174972600-174977000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:174972600-174977200	Weak transcription	Ovary	ovary
29	chr1:174972600-174981800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:174973000-174982200	Weak transcription	Fetal Brain Male	brain
31	chr1:174973000-174990600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:174973200-174976200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:174973200-174976400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr1:174973200-174976400	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr1:174973200-174976400	Weak transcription	Fetal Lung	lung
36	chr1:174973200-174976600	Weak transcription	Psoas Muscle	Psoas
37	chr1:174973200-174978600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr1:174973200-174982000	Weak transcription	Small Intestine	intestine
39	chr1:174973200-174983600	Strong transcription	K562	blood
40	chr1:174973200-174987800	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr1:174973200-174987800	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:174973200-174988200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:174973400-174976400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr1:174973600-174987800	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:174973600-174988200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:174973600-174990400	Strong transcription	Primary T cells from cord blood	blood
47	chr1:174973800-174980600	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr1:174973800-174983800	Strong transcription	NH-A	brain
49	chr1:174973800-174984000	Strong transcription	Hela-S3	cervix
50	chr1:174973800-174984600	Strong transcription	NHDF-Ad	bronchial

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