Variant report

Variant	rs35836064
Chromosome Location	chr2:113986881-113986882
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113982222..113985690-chr2:113985752..113988361,3	MCF-7	breast:
2	chr2:113984662..113986882-chr2:113987458..113990023,3	MCF-7	breast:
3	chr2:113983505..113988046-chr2:113991447..113994622,4	MCF-7	breast:
4	chr2:113985857..113989130-chr2:113997597..114000334,4	MCF-7	breast:
5	chr2:113986423..113989095-chr2:113995942..113999878,3	K562	blood:
6	chr2:113985061..113989384-chr2:113997788..114002105,6	MCF-7	breast:
7	chr2:113978488..113981632-chr2:113983864..113986982,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSD4-4	chr2:113986401-113987595	NONHSAT073756

No data

Variant related genes	Relation type
ENSG00000125618	Chromatin interaction
ENSG00000189223	Chromatin interaction
ENSG00000258395	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13405033	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13431315	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45449699	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6542125	0.88[CEU][hapmap]
rs6542126	0.81[TSI][hapmap]
rs66775912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67081417	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs67776659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67802835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831810	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72831838	0.81[EUR][1000 genomes]
rs7595282	0.88[GIH][hapmap];0.81[TSI][hapmap]

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	nsv459008	chr2:113972945-114010791	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv582713	chr2:113972945-114010791	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv508162	chr2:113983043-114099966	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs35836064	SLC20A1	cis	parietal	SCAN
rs35836064	PAX8	cis	multi-tissue	Pritchard

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113978000-113987600	Weak transcription	Esophagus	oesophagus
2	chr2:113978200-113987200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr2:113978200-113991800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:113980200-113991600	Weak transcription	Spleen	Spleen
5	chr2:113982600-113987000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr2:113982600-113992600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr2:113982800-113990600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:113983400-113987800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:113983400-113989000	Weak transcription	Stomach Mucosa	stomach
10	chr2:113983400-113989200	Enhancers	Primary hematopoietic stem cells	blood
11	chr2:113983400-113991600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:113983800-113989800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:113983800-113991800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:113984000-113987400	Weak transcription	Pancreas	Pancrea
15	chr2:113984000-113987800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:113984000-113988400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:113984000-113990000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:113984000-113998000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:113984200-113987200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:113984200-113988000	Weak transcription	Fetal Lung	lung
21	chr2:113984200-113989600	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:113984400-113990200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:113985000-113987600	Weak transcription	Lung	lung
24	chr2:113985000-113991600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:113985200-113987200	Enhancers	A549	lung
26	chr2:113985800-113987600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr2:113985800-113987600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:113985800-113990400	Enhancers	Duodenum Mucosa	Duodenum
29	chr2:113985800-113990800	Enhancers	Fetal Heart	heart
30	chr2:113986000-113990600	Enhancers	Fetal Intestine Large	intestine
31	chr2:113986200-113990000	Weak transcription	Gastric	stomach
32	chr2:113986400-113987200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:113986400-113987800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:113986400-113989000	Weak transcription	Right Atrium	heart
35	chr2:113986600-113987000	Enhancers	Liver	Liver
36	chr2:113986600-113987000	Enhancers	Hela-S3	cervix
37	chr2:113986600-113987400	Enhancers	HepG2	liver
38	chr2:113986600-113987600	Enhancers	Fetal Intestine Small	intestine
39	chr2:113986600-113987800	Genic enhancers	Fetal Kidney	kidney
40	chr2:113986800-113987000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr2:113986800-113990400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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