Variant report

Variant	rs7649385
Chromosome Location	chr3:111267968-111267969
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	chr3:111264050..111266298-chr3:111267284..111269924,2	K562	blood:
2	chr3:111267159..111269503-chr3:111303920..111306362,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1513322	0.83[ASN][1000 genomes]
rs1513324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1513325	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56217549	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56257750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57681416	1.00[ASN][1000 genomes]
rs58464317	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58726643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61645432	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62273542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62273545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62273546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62275476	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62275477	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62275478	0.94[ASN][1000 genomes]
rs73228122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7619313	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7619498	1.00[ASN][1000 genomes]
rs7637867	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7648890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111260200-111269800	Enhancers	Primary hematopoietic stem cells	blood
2	chr3:111262600-111268400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
3	chr3:111262600-111269400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
4	chr3:111263200-111269000	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr3:111263200-111269200	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr3:111264200-111268800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:111264400-111268000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
8	chr3:111264600-111268400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:111265000-111271600	Enhancers	Primary B cells from peripheral blood	blood
10	chr3:111265800-111271600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr3:111266200-111268200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr3:111266200-111268200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr3:111266200-111268400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr3:111266200-111268800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr3:111266400-111268000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr3:111266600-111268400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:111266800-111268000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
18	chr3:111266800-111268000	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr3:111266800-111268800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr3:111267000-111268400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr3:111267000-111268600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr3:111267200-111268000	Active TSS	Thymus	Thymus
23	chr3:111267200-111269800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:111267400-111268000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr3:111267400-111268000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr3:111267400-111268000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr3:111267400-111268400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr3:111267400-111270200	Enhancers	Primary B cells from cord blood	blood
29	chr3:111267400-111271000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr3:111267600-111268000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr3:111267600-111268000	Flanking Active TSS	Fetal Thymus	thymus
32	chr3:111267600-111268200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr3:111267600-111268600	Enhancers	Small Intestine	intestine
34	chr3:111267800-111268000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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