Variant report

Variant	rs12974363
Chromosome Location	chr19:38919971-38919972
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	chr19:38902615..38904931-chr19:38918308..38920635,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11883126	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12971920	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12972609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12972895	1.00[EUR][1000 genomes]
rs12973210	1.00[CEU][hapmap];0.87[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12974979	1.00[CEU][hapmap];0.82[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12975212	0.96[EUR][1000 genomes]
rs12982894	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12986359	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17640544	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[LWK][hapmap];0.88[MKK][hapmap];0.87[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34026587	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34158728	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34377632	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34411591	0.90[AFR][1000 genomes]
rs34456672	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34898849	0.90[AFR][1000 genomes]
rs35136248	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71356804	1.00[EUR][1000 genomes]
rs71356805	1.00[EUR][1000 genomes]
rs9916978	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv911659	chr19:38852357-39002140	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv911660	chr19:38852357-39060238	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv833823	chr19:38855550-39035800	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv1055309	chr19:38896244-38945851	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv911663	chr19:38899548-39101879	Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv1065803	chr19:38903099-38945851	Bivalent Enhancer Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	nsv1066138	chr19:38904072-38949729	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv833824	chr19:38914618-39084758	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	esv1816081	chr19:38919971-39050479	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38916400-38920600	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr19:38916800-38920200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr19:38916800-38924000	Weak transcription	Right Atrium	heart
4	chr19:38917000-38920600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr19:38917200-38923800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr19:38917600-38923600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr19:38917600-38924000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr19:38917600-38924000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr19:38918000-38920600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr19:38918000-38921600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:38918200-38920200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:38918400-38923800	Weak transcription	K562	blood
13	chr19:38918600-38924000	Weak transcription	Psoas Muscle	Psoas
14	chr19:38918600-38924000	Weak transcription	GM12878-XiMat	blood
15	chr19:38919200-38920600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr19:38919400-38920600	Enhancers	Primary hematopoietic stem cells	blood
17	chr19:38919600-38920000	Enhancers	Primary T cells from cord blood	blood
18	chr19:38919600-38920400	Enhancers	Fetal Thymus	thymus
19	chr19:38919600-38920600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr19:38919800-38920000	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr19:38919800-38920400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr19:38919800-38920400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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