Variant report

Variant	rs17035304
Chromosome Location	chr2:46804206-46804207
allele	C/G
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	MAFK	chr2:46804144-46804427	HepG2	liver:	n/a	chr2:46804275-46804290 chr2:46804276-46804287 chr2:46804275-46804291 chr2:46804274-46804288 chr2:46804276-46804287
2	MAFK	chr2:46804138-46804339	HepG2	liver:	n/a	chr2:46804275-46804290 chr2:46804276-46804287 chr2:46804275-46804291 chr2:46804274-46804288 chr2:46804276-46804287

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46770414..46772957-chr2:46801807..46804486,2	MCF-7	breast:

Variant related genes	Relation type
RHOQ	TF binding region
ENSG00000119729	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17035286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17035292	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17035362	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs17035379	0.88[EUR][1000 genomes]
rs57721045	0.94[EUR][1000 genomes]
rs59433516	0.88[EUR][1000 genomes]
rs61159979	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6544903	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs6725143	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs6740585	0.88[EUR][1000 genomes]
rs72875677	0.94[ASN][1000 genomes]
rs72877466	0.94[EUR][1000 genomes]
rs7557785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7561350	0.88[EUR][1000 genomes]
rs7577966	1.00[EUR][1000 genomes]
rs7595448	0.88[EUR][1000 genomes]
rs7599723	0.88[EUR][1000 genomes]
rs7599922	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7606325	0.88[EUR][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	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv34937	chr2:46651624-46818586	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv1009735	chr2:46724523-46913152	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv533112	chr2:46800828-46959977	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 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	chr2:46771200-46812800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:46773200-46806000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:46775600-46815800	Weak transcription	Fetal Brain Female	brain
4	chr2:46782400-46806600	Weak transcription	Brain Germinal Matrix	brain
5	chr2:46783000-46807200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:46783600-46838000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:46785400-46807600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:46785400-46809400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr2:46786800-46805200	Weak transcription	Small Intestine	intestine
10	chr2:46787800-46806600	Weak transcription	Gastric	stomach
11	chr2:46789400-46811200	Weak transcription	Colonic Mucosa	Colon
12	chr2:46789800-46805800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr2:46789800-46807000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr2:46790000-46807200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:46790000-46842000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr2:46790200-46807000	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:46790200-46807400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:46790600-46806200	Weak transcription	Dnd41	blood
19	chr2:46792200-46809200	Weak transcription	Esophagus	oesophagus
20	chr2:46793000-46806400	Weak transcription	Lung	lung
21	chr2:46793200-46806200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:46793200-46806200	Weak transcription	Aorta	Aorta
23	chr2:46796000-46807200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:46796000-46812200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr2:46796200-46806400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:46796200-46807800	Weak transcription	Stomach Mucosa	stomach
27	chr2:46796400-46806400	Weak transcription	Placenta	Placenta
28	chr2:46796400-46807000	Weak transcription	Spleen	Spleen
29	chr2:46796600-46807200	Weak transcription	Pancreas	Pancrea
30	chr2:46796600-46807400	Weak transcription	Thymus	Thymus
31	chr2:46796600-46822000	Weak transcription	Fetal Brain Male	brain
32	chr2:46796800-46806000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:46796800-46807400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:46796800-46838000	Weak transcription	Fetal Kidney	kidney
35	chr2:46796800-46842800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr2:46797200-46806400	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr2:46797800-46814400	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr2:46797800-46841000	Weak transcription	K562	blood
39	chr2:46798200-46838000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:46798400-46807200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:46798600-46806200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:46798800-46806600	Weak transcription	Liver	Liver
43	chr2:46798800-46807400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr2:46799600-46806600	Weak transcription	Fetal Intestine Small	intestine
45	chr2:46799800-46806600	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr2:46800200-46807000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr2:46800600-46807000	Weak transcription	Ovary	ovary
48	chr2:46801200-46808400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr2:46801200-46815000	Weak transcription	Psoas Muscle	Psoas
50	chr2:46801400-46807000	Weak transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links