Variant report

Variant	rs968910
Chromosome Location	chr3:111265961-111265962
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:111264798..111266584-chr3:111268166..111269924,2	K562	blood:
2	chr3:111264050..111266298-chr3:111267284..111269924,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10511298	0.86[CHB][hapmap];0.85[CHD][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs11916952	0.86[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs12493058	0.80[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs12494356	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1391356	0.86[JPT][hapmap]
rs1398750	1.00[MKK][hapmap];0.86[TSI][hapmap]
rs1497990	0.86[JPT][hapmap]
rs1513323	0.86[JPT][hapmap]
rs1603687	0.84[ASN][1000 genomes]
rs2088468	0.84[ASN][1000 genomes]
rs2399393	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6764960	0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs6788797	0.85[ASN][1000 genomes]
rs721336	0.80[CHB][hapmap];0.81[JPT][hapmap]
rs7616420	0.86[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs7619086	0.86[JPT][hapmap]
rs7628253	0.85[ASN][1000 genomes]
rs883113	0.83[ASN][1000 genomes]
rs924262	0.86[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs9839802	0.83[ASN][1000 genomes]
rs9855343	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9868266	1.00[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv997756	chr3:111226058-111376585	Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv3946	chr3:111236035-111283038	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111258600-111266800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:111258800-111266600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:111260200-111269800	Enhancers	Primary hematopoietic stem cells	blood
4	chr3:111261200-111266400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr3:111261200-111266800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:111261400-111266000	Weak transcription	GM12878-XiMat	blood
7	chr3:111261800-111266800	Weak transcription	Small Intestine	intestine
8	chr3:111262600-111268400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
9	chr3:111262600-111269400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr3:111263200-111266200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr3:111263200-111266800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr3:111263200-111269000	Transcr. at gene 5' and 3'	Dnd41	blood
13	chr3:111263200-111269200	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr3:111263400-111266000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr3:111263400-111266200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr3:111263600-111266200	Enhancers	Thymus	Thymus
17	chr3:111263800-111266200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:111264000-111266400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr3:111264200-111266800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr3:111264200-111268800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr3:111264400-111268000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr3:111264600-111266600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr3:111264600-111267400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr3:111264600-111268400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:111265000-111271600	Enhancers	Primary B cells from peripheral blood	blood
26	chr3:111265200-111266600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:111265400-111266200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr3:111265400-111266400	Enhancers	Primary B cells from cord blood	blood
29	chr3:111265600-111266000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr3:111265600-111266400	Weak transcription	Fetal Thymus	thymus
31	chr3:111265800-111266200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr3:111265800-111266200	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr3:111265800-111266200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr3:111265800-111267600	Active TSS	Primary T cells fromperipheralblood	blood
35	chr3:111265800-111271600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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