Variant report

Variant	rs7565744
Chromosome Location	chr2:98342069-98342070
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98207043..98207962-chr2:98341661..98342410,2	MCF-7	breast:
2	chr2:98340167..98342272-chr2:98350738..98353485,2	MCF-7	breast:

Variant related genes	Relation type
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]
rs17033906	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]
rs2278699	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289918	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289919	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35321446	0.95[ASN][1000 genomes]
rs55957600	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56293187	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56948188	0.95[ASN][1000 genomes]
rs57831860	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58019724	0.89[ASN][1000 genomes]
rs58511420	0.98[AMR][1000 genomes];0.96[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];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72951160	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73963107	0.85[EUR][1000 genomes]
rs73963109	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746003	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746004	0.84[AMR][1000 genomes];0.81[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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98335000-98344800	Weak transcription	Right Atrium	heart
2	chr2:98336000-98344400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:98336000-98346000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
4	chr2:98336200-98345000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr2:98336200-98345600	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr2:98336200-98345800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr2:98336200-98351200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:98336400-98345000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:98336400-98346000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
10	chr2:98336400-98361400	Weak transcription	Primary B cells from cord blood	blood
11	chr2:98336600-98346200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:98336600-98346200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:98336600-98358800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:98337400-98343800	Strong transcription	Fetal Thymus	thymus
15	chr2:98337400-98346600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:98337800-98343200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:98337800-98357400	Strong transcription	Dnd41	blood
18	chr2:98338800-98358800	Strong transcription	Thymus	Thymus
19	chr2:98339200-98345800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr2:98339400-98342800	Weak transcription	HSMMtube	muscle
21	chr2:98339600-98357200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:98339800-98342200	Strong transcription	Primary T cells from cord blood	blood
23	chr2:98340600-98346600	Weak transcription	Esophagus	oesophagus
24	chr2:98341000-98342400	Strong transcription	Spleen	Spleen
25	chr2:98341000-98343000	Weak transcription	Lung	lung
26	chr2:98341000-98354800	Weak transcription	Gastric	stomach
27	chr2:98341200-98345800	Enhancers	Fetal Muscle Leg	muscle
28	chr2:98341400-98344000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:98341600-98342800	Bivalent Enhancer	Placenta	Placenta
30	chr2:98341600-98343000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:98341800-98342200	Bivalent Enhancer	Fetal Stomach	stomach
32	chr2:98341800-98342200	Enhancers	Right Ventricle	heart
33	chr2:98341800-98342400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:98341800-98342600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr2:98341800-98343800	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr2:98341800-98345800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:98341800-98348000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:98342000-98342200	Weak transcription	Pancreas	Pancrea
39	chr2:98342000-98343200	Enhancers	Adipose Nuclei	Adipose
40	chr2:98342000-98345600	Enhancers	Fetal Muscle Trunk	muscle
41	chr2:98342000-98345800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:98342000-98346400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr2:98342000-98347200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood

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