Variant report

Variant	rs16982947
Chromosome Location	chr19:52209499-52209500
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:52191148..52193451-chr19:52208033..52210074,2	MCF-7	breast:
2	chr19:52205132..52207221-chr19:52208927..52210926,2	K562	blood:
3	chr19:52195430..52197068-chr19:52208876..52211529,2	K562	blood:

Variant related genes	Relation type
ENSG00000273318	Chromatin interaction
ENSG00000208008	Chromatin interaction
ENSG00000198972	Chromatin interaction
ENSG00000182310	Chromatin interaction
ENSG00000207550	Chromatin interaction
ENSG00000269959	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10408429	0.94[ASN][1000 genomes]
rs10422727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.90[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2122893	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2290282	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28473660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56720219	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73054883	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73054899	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758504	chr19:51991896-52266700	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	542 gene(s)	inside rSNPs	diseases
2	esv2758767	chr19:51991896-52604625	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	578 gene(s)	inside rSNPs	diseases
3	nsv482909	chr19:52091735-52266700	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	533 gene(s)	inside rSNPs	diseases
4	nsv1064914	chr19:52103914-52231564	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	529 gene(s)	inside rSNPs	diseases
5	nsv544052	chr19:52103914-52271247	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	531 gene(s)	inside rSNPs	diseases
6	nsv1056825	chr19:52103914-52359815	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
7	nsv544053	chr19:52103914-52359815	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
8	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
9	esv1843680	chr19:52131510-52211749	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	525 gene(s)	inside rSNPs	diseases
10	nsv1066046	chr19:52147399-52271247	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	525 gene(s)	inside rSNPs	diseases
11	nsv544054	chr19:52147399-52271247	Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	525 gene(s)	inside rSNPs	diseases
12	nsv912296	chr19:52182363-52231032	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	518 gene(s)	inside rSNPs	diseases
13	nsv915725	chr19:52184488-52439676	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
14	nsv9742	chr19:52187538-52221742	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	517 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52207800-52209600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr19:52208000-52209800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:52208000-52211000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr19:52208000-52211400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr19:52208000-52211600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr19:52208000-52211600	Weak transcription	Gastric	stomach
7	chr19:52208000-52212000	Weak transcription	Aorta	Aorta
8	chr19:52208000-52216600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:52208200-52210800	Weak transcription	Hela-S3	cervix
10	chr19:52208200-52211400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr19:52208200-52211800	Strong transcription	NHLF	lung
12	chr19:52208400-52210200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr19:52208400-52210400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr19:52208400-52210400	Strong transcription	HUVEC	blood vessel
15	chr19:52208400-52210800	Strong transcription	Fetal Kidney	kidney
16	chr19:52208400-52211000	Strong transcription	Placenta Amnion	Placenta Amnion
17	chr19:52208400-52211400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr19:52208400-52211400	Strong transcription	Fetal Lung	lung
19	chr19:52208400-52211600	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr19:52208400-52211600	Strong transcription	NH-A	brain
21	chr19:52208400-52212400	Strong transcription	A549	lung
22	chr19:52208400-52213000	Weak transcription	Esophagus	oesophagus
23	chr19:52208400-52213000	Weak transcription	Lung	lung
24	chr19:52208400-52216200	Weak transcription	Fetal Brain Male	brain
25	chr19:52208400-52218200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr19:52208400-52220200	Weak transcription	Ovary	ovary
27	chr19:52208600-52209600	Weak transcription	Fetal Thymus	thymus
28	chr19:52208600-52209600	Genic enhancers	Stomach Smooth Muscle	stomach
29	chr19:52208600-52209600	Strong transcription	HSMMtube	muscle
30	chr19:52208600-52209800	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr19:52208600-52209800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr19:52208600-52209800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr19:52208600-52209800	Genic enhancers	Osteobl	bone
34	chr19:52208600-52210000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr19:52208600-52210200	Strong transcription	Fetal Intestine Large	intestine
36	chr19:52208600-52210400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr19:52208600-52211000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr19:52208600-52211200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:52208600-52211200	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr19:52208600-52211200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr19:52208600-52211400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr19:52208600-52211400	Strong transcription	Fetal Intestine Small	intestine
43	chr19:52208600-52211400	Strong transcription	Placenta	Placenta
44	chr19:52208600-52211800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr19:52208600-52211800	Strong transcription	HSMM	muscle
46	chr19:52208600-52212000	Weak transcription	Right Ventricle	heart
47	chr19:52208600-52212200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr19:52208600-52212200	Weak transcription	Brain Germinal Matrix	brain
49	chr19:52208600-52212400	Weak transcription	Colonic Mucosa	Colon
50	chr19:52208600-52212800	Weak transcription	Primary T cells from cord blood	blood

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