Variant report

Variant	rs2597178
Chromosome Location	chr17:46060841-46060842
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46059324..46060988-chr17:46072886..46074835,2	K562	blood:
2	chr17:46053682..46056585-chr17:46059998..46062709,2	K562	blood:
3	chr17:46059948..46063060-chr17:46063175..46066138,4	MCF-7	breast:
4	chr17:46058631..46063478-chr17:46064617..46070061,8	K562	blood:
5	chr17:46058567..46062223-chr17:46094441..46097254,3	K562	blood:
6	chr17:46059865..46061717-chr17:46063064..46066103,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264701	Chromatin interaction
ENSG00000108465	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2255814	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2256020	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2525083	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2525097	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2525104	0.85[EUR][1000 genomes]
rs2597164	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2597177	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs2737	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3826396	0.83[EUR][1000 genomes]
rs4794331	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs57768342	0.83[EUR][1000 genomes]
rs7216411	0.87[CHB][hapmap]
rs736387	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

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	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46049800-46066600	Weak transcription	Small Intestine	intestine
2	chr17:46050200-46061800	Strong transcription	NHLF	lung
3	chr17:46050200-46062000	Strong transcription	NHEK	skin
4	chr17:46050200-46062200	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr17:46050200-46062800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr17:46050200-46063000	Strong transcription	Fetal Muscle Trunk	muscle
7	chr17:46050200-46063400	Strong transcription	Fetal Stomach	stomach
8	chr17:46050400-46061000	Strong transcription	A549	lung
9	chr17:46050400-46061200	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr17:46050400-46061400	Strong transcription	HepG2	liver
11	chr17:46050400-46062000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr17:46050400-46062200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr17:46050400-46063000	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr17:46050600-46061800	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr17:46050600-46062200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr17:46050600-46062200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr17:46050800-46061000	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr17:46050800-46061200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr17:46050800-46061600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr17:46050800-46061600	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr17:46050800-46061800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr17:46050800-46062000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr17:46050800-46062000	Strong transcription	Primary B cells from peripheral blood	blood
24	chr17:46050800-46062200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr17:46050800-46062400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr17:46050800-46062600	Strong transcription	Fetal Intestine Small	intestine
27	chr17:46050800-46062800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr17:46050800-46063000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr17:46050800-46063000	Strong transcription	Fetal Muscle Leg	muscle
30	chr17:46051000-46061000	Strong transcription	Rectal Smooth Muscle	rectum
31	chr17:46051000-46061800	Strong transcription	Stomach Smooth Muscle	stomach
32	chr17:46051000-46062000	Strong transcription	Primary B cells from cord blood	blood
33	chr17:46051000-46062200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr17:46051000-46062200	Strong transcription	Placenta Amnion	Placenta Amnion
35	chr17:46051000-46063000	Strong transcription	Primary T cells from cord blood	blood
36	chr17:46051000-46063000	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr17:46051200-46061000	Strong transcription	Brain Substantia Nigra	brain
38	chr17:46051200-46061000	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr17:46051200-46061200	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr17:46051200-46062000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr17:46051400-46061200	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr17:46051800-46062400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr17:46054200-46063000	Strong transcription	Thymus	Thymus
44	chr17:46054600-46061800	Strong transcription	Pancreas	Pancrea
45	chr17:46054800-46061000	Strong transcription	Esophagus	oesophagus
46	chr17:46055200-46061000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr17:46056200-46064000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr17:46056400-46061200	Strong transcription	Brain Germinal Matrix	brain
49	chr17:46056400-46061800	Strong transcription	GM12878-XiMat	blood
50	chr17:46056400-46062200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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