Variant report

Variant	rs17037040
Chromosome Location	chr2:48119446-48119447
allele	A/C
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	GATA3	chr2:48118679-48119483	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:48117268..48119865-chr2:48131666..48133287,2	K562	blood:
2	chr2:48099277..48101061-chr2:48116565..48119523,2	K562	blood:
3	chr2:48117182..48119850-chr2:48125239..48128158,2	K562	blood:

Variant related genes	Relation type
FBXO11	TF binding region
ENSG00000138081	Chromatin interaction
ENSG00000233230	Chromatin interaction

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

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

rs_ID	r²[population]
rs10490303	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10495948	0.82[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];0.90[LWK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17036952	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17036971	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17037021	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17037055	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17037062	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17037064	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2134055	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2881863	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3136242	0.90[AMR][1000 genomes]
rs3136274	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3136286	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4381823	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56682209	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56881113	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58057481	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58552166	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59624704	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60118201	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60303023	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6704872	1.00[GIH][hapmap]
rs72876814	0.87[EUR][1000 genomes]
rs7560678	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998096	chr2:47939614-48131697	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv930955	chr2:48040218-48121218	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv523013	chr2:48073117-48146122	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv874000	chr2:48078838-48291582	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48067000-48122000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:48089800-48121000	Weak transcription	Aorta	Aorta
3	chr2:48095200-48127200	Weak transcription	Fetal Kidney	kidney
4	chr2:48095400-48129600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:48096000-48123400	Weak transcription	Esophagus	oesophagus
6	chr2:48097800-48123400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:48098000-48122400	Weak transcription	Fetal Brain Male	brain
8	chr2:48098400-48119600	Weak transcription	Liver	Liver
9	chr2:48098400-48125000	Weak transcription	HUVEC	blood vessel
10	chr2:48098600-48121000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr2:48098600-48129000	Weak transcription	Gastric	stomach
12	chr2:48098600-48129000	Weak transcription	Pancreas	Pancrea
13	chr2:48100600-48121000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:48100600-48129200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:48100800-48120600	Weak transcription	K562	blood
16	chr2:48101000-48119600	Weak transcription	Adipose Nuclei	Adipose
17	chr2:48101200-48123600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:48108600-48129800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr2:48109600-48123400	Weak transcription	Hela-S3	cervix
20	chr2:48110200-48120800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr2:48110200-48125200	Weak transcription	Brain Germinal Matrix	brain
22	chr2:48110600-48123400	Weak transcription	HepG2	liver
23	chr2:48110600-48127000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:48110600-48130800	Weak transcription	Fetal Thymus	thymus
25	chr2:48110800-48121200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:48111000-48130800	Weak transcription	Thymus	Thymus
27	chr2:48111600-48127000	Weak transcription	Fetal Intestine Large	intestine
28	chr2:48112800-48127200	Weak transcription	Right Atrium	heart
29	chr2:48114000-48119600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:48114000-48124000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr2:48114400-48129000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:48114400-48130600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr2:48115000-48121600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:48115000-48131000	Weak transcription	Stomach Mucosa	stomach
35	chr2:48115200-48122200	Weak transcription	Fetal Lung	lung
36	chr2:48115200-48123200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:48115200-48123400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:48115200-48123400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:48115200-48123400	Weak transcription	Lung	lung
40	chr2:48115200-48123600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:48115200-48124400	Weak transcription	Fetal Intestine Small	intestine
42	chr2:48115200-48131400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:48115400-48119600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr2:48115400-48119600	Weak transcription	Small Intestine	intestine
45	chr2:48115400-48121400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:48115400-48125200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr2:48115400-48125600	Weak transcription	Dnd41	blood
48	chr2:48115800-48121000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:48116200-48120800	Weak transcription	Primary B cells from cord blood	blood
50	chr2:48116200-48125200	Weak transcription	HSMM	muscle

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