Variant report

Variant	rs17033906
Chromosome Location	chr2:98344595-98344596
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	MYC	chr2:98344590-98345191	MCF10A-Er-Src	breast:	n/a	chr2:98345003-98345014 chr2:98344843-98344852 chr2:98344844-98344853 chr2:98345003-98345013 chr2:98344999-98345018 chr2:98345003-98345014
2	POLR2A	chr2:98344509-98345088	MCF10A-Er-Src	breast:	n/a	n/a
3	E2F4	chr2:98344590-98344894	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:98336485..98339120-chr2:98342439..98345883,3	K562	blood:
2	chr2:98343226..98345412-chr2:98346689..98348407,3	K562	blood:
3	chr2:98329506..98332077-chr2:98344010..98346831,2	K562	blood:

Variant related genes	Relation type
ZAP70	TF binding region
ENSG00000115085	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10432617	0.80[ASN][1000 genomes]
rs10432627	0.80[ASN][1000 genomes]
rs10432628	0.80[ASN][1000 genomes]
rs10460479	0.84[ASN][1000 genomes]
rs10460480	0.93[ASN][1000 genomes]
rs11687510	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs12053205	0.87[ASN][1000 genomes]
rs1562293	0.90[ASN][1000 genomes]
rs2278699	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289918	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289919	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35321446	0.95[ASN][1000 genomes]
rs55957600	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56293187	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56948188	0.95[ASN][1000 genomes]
rs57831860	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58019724	0.89[ASN][1000 genomes]
rs58511420	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59562515	0.89[ASN][1000 genomes]
rs61228852	0.87[ASN][1000 genomes]
rs62157588	0.94[ASN][1000 genomes]
rs6543040	0.89[CHB][hapmap]
rs6711959	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72951160	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73963107	0.88[EUR][1000 genomes]
rs73963109	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746003	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746004	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7565744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv874696	chr2:98309882-98362907	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv10104	chr2:98340272-98345152	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98335000-98344800	Weak transcription	Right Atrium	heart
2	chr2:98336000-98346000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
3	chr2:98336200-98345000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr2:98336200-98345600	Genic enhancers	Primary T cells fromperipheralblood	blood
5	chr2:98336200-98345800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr2:98336200-98351200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:98336400-98345000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:98336400-98346000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
9	chr2:98336400-98361400	Weak transcription	Primary B cells from cord blood	blood
10	chr2:98336600-98346200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:98336600-98346200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:98336600-98358800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:98337400-98346600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:98337800-98357400	Strong transcription	Dnd41	blood
15	chr2:98338800-98358800	Strong transcription	Thymus	Thymus
16	chr2:98339200-98345800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr2:98339600-98357200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:98340600-98346600	Weak transcription	Esophagus	oesophagus
19	chr2:98341000-98354800	Weak transcription	Gastric	stomach
20	chr2:98341200-98345800	Enhancers	Fetal Muscle Leg	muscle
21	chr2:98341800-98345800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:98341800-98348000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:98342000-98345600	Enhancers	Fetal Muscle Trunk	muscle
24	chr2:98342000-98345800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:98342000-98346400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:98342000-98347200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr2:98342200-98345600	Enhancers	Fetal Stomach	stomach
28	chr2:98342200-98345600	Enhancers	Left Ventricle	heart
29	chr2:98342400-98346600	Weak transcription	Spleen	Spleen
30	chr2:98342600-98357200	Strong transcription	Primary T cells from cord blood	blood
31	chr2:98342800-98345200	Enhancers	Placenta	Placenta
32	chr2:98343000-98345000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:98343200-98344800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr2:98343600-98345200	Enhancers	NHDF-Ad	bronchial
35	chr2:98343600-98357200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr2:98343800-98344600	Genic enhancers	Fetal Thymus	thymus
37	chr2:98343800-98345200	Enhancers	HSMM	muscle
38	chr2:98344000-98344600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr2:98344000-98344800	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:98344200-98344600	Flanking Active TSS	HSMMtube	muscle
41	chr2:98344200-98345200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:98344200-98345400	Enhancers	HMEC	breast
43	chr2:98344400-98344600	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr2:98344400-98344800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:98344400-98344800	Enhancers	Brain Angular Gyrus	brain
46	chr2:98344400-98344800	Enhancers	Right Ventricle	heart
47	chr2:98344400-98344800	Enhancers	Hela-S3	cervix
48	chr2:98344400-98345000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:98344400-98345000	Enhancers	Duodenum Mucosa	Duodenum

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