Variant report

Variant	rs16975336
Chromosome Location	chr19:42054130-42054131
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11881771	0.89[EUR][1000 genomes]
rs16975329	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16975348	1.00[CEU][hapmap]
rs62119363	0.89[EUR][1000 genomes]
rs62119364	1.00[EUR][1000 genomes]
rs62119366	1.00[EUR][1000 genomes]
rs62119367	1.00[EUR][1000 genomes]
rs62119368	1.00[EUR][1000 genomes]
rs62119370	1.00[EUR][1000 genomes]
rs62119371	1.00[EUR][1000 genomes]
rs62119372	1.00[EUR][1000 genomes]
rs62119373	1.00[EUR][1000 genomes]
rs62119374	1.00[EUR][1000 genomes]
rs62119376	1.00[EUR][1000 genomes]
rs62119408	1.00[EUR][1000 genomes]
rs62119409	1.00[EUR][1000 genomes]
rs62119410	1.00[EUR][1000 genomes]
rs62119411	0.90[EUR][1000 genomes]
rs62119416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62119419	0.89[EUR][1000 genomes]
rs62119420	0.89[EUR][1000 genomes]
rs62119421	0.89[EUR][1000 genomes]
rs62119449	0.89[EUR][1000 genomes]
rs62119450	0.89[EUR][1000 genomes]
rs7246864	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7255763	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7255775	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7260464	1.00[CEU][hapmap]
rs9749229	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911770	chr19:41962486-42066279	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv911771	chr19:41962486-42085873	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1055515	chr19:41968797-42057334	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv911772	chr19:41985624-42066279	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv911773	chr19:42001210-42085873	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv978751	chr19:42036596-42073874	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42050600-42055000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr19:42051400-42055800	Enhancers	Primary hematopoietic stem cells	blood
3	chr19:42051800-42054200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
4	chr19:42051800-42055400	Enhancers	Fetal Thymus	thymus
5	chr19:42052600-42054600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr19:42052800-42055200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:42052800-42055200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr19:42052800-42055200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr19:42053000-42054200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr19:42053000-42054600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:42053000-42054600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr19:42053000-42054600	Weak transcription	Fetal Intestine Small	intestine
13	chr19:42053000-42055200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr19:42053000-42055200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr19:42053000-42055200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr19:42053000-42055200	Enhancers	GM12878-XiMat	blood
17	chr19:42053200-42054400	Enhancers	Adipose Nuclei	Adipose
18	chr19:42053200-42054600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr19:42053200-42054600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr19:42053200-42055000	Enhancers	Primary B cells from cord blood	blood
21	chr19:42053200-42055000	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr19:42053200-42055200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:42053200-42055200	Enhancers	Primary B cells from peripheral blood	blood
24	chr19:42053200-42055200	Enhancers	Primary T cells fromperipheralblood	blood
25	chr19:42053200-42055200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr19:42053200-42055200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr19:42053200-42055200	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr19:42053200-42055200	Weak transcription	Thymus	Thymus
29	chr19:42053200-42056000	Weak transcription	Placenta	Placenta
30	chr19:42053200-42058200	Weak transcription	Lung	lung
31	chr19:42053400-42055000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr19:42053400-42055000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr19:42053400-42055200	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr19:42053400-42055200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr19:42053400-42055200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr19:42053600-42054600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr19:42053600-42055200	Enhancers	Primary T cells from cord blood	blood
38	chr19:42053800-42054600	Enhancers	Spleen	Spleen
39	chr19:42053800-42054800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr19:42053800-42055200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr19:42053800-42055200	Enhancers	HUVEC	blood vessel
42	chr19:42054000-42054200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr19:42054000-42054200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr19:42054000-42054200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr19:42054000-42054200	Enhancers	Fetal Lung	lung

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