Variant report

Variant	rs2304129
Chromosome Location	chr19:19746214-19746215
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	chr19:19746005..19749139-chr19:19754452..19756751,3	K562	blood:

Variant related genes	Relation type
ENSG00000089639	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10403759	0.98[ASN][1000 genomes]
rs11878202	1.00[ASN][1000 genomes]
rs11879838	0.97[ASN][1000 genomes]
rs12971734	1.00[CEU][hapmap]
rs12974308	0.81[EUR][1000 genomes]
rs12976582	0.81[EUR][1000 genomes]
rs12976826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12982049	0.81[EUR][1000 genomes]
rs1433079	0.81[EUR][1000 genomes]
rs16994684	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16996174	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1968047	0.94[ASN][1000 genomes]
rs2033481	1.00[CEU][hapmap]
rs2043293	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs34558847	0.81[EUR][1000 genomes]
rs34725331	0.96[ASN][1000 genomes]
rs35035906	0.81[EUR][1000 genomes]
rs35445661	0.81[EUR][1000 genomes]
rs35449009	0.81[EUR][1000 genomes]
rs35792080	0.81[EUR][1000 genomes]
rs3752152	0.81[EUR][1000 genomes]
rs4808974	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7252228	0.96[ASN][1000 genomes]
rs739461	0.89[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs74181147	0.81[EUR][1000 genomes]
rs74181148	0.81[EUR][1000 genomes]
rs74181149	0.81[EUR][1000 genomes]
rs74181150	0.81[EUR][1000 genomes]
rs74181151	0.81[EUR][1000 genomes]
rs8101679	0.99[ASN][1000 genomes]
rs8113682	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs880090	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv911309	chr19:19727042-19784891	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19735000-19753200	Weak transcription	K562	blood
2	chr19:19738600-19753000	Weak transcription	Fetal Brain Male	brain
3	chr19:19738800-19752800	Weak transcription	Stomach Mucosa	stomach
4	chr19:19739800-19752600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr19:19739800-19753200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:19739800-19753400	Weak transcription	Small Intestine	intestine
7	chr19:19739800-19753400	Weak transcription	HMEC	breast
8	chr19:19739800-19753600	Weak transcription	Brain Angular Gyrus	brain
9	chr19:19739800-19753600	Weak transcription	Brain Substantia Nigra	brain
10	chr19:19739800-19753600	Weak transcription	Left Ventricle	heart
11	chr19:19739800-19753600	Weak transcription	Right Atrium	heart
12	chr19:19740000-19753400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:19740000-19753400	Weak transcription	Brain Anterior Caudate	brain
14	chr19:19740000-19753600	Weak transcription	Fetal Kidney	kidney
15	chr19:19740200-19747600	Strong transcription	Thymus	Thymus
16	chr19:19740200-19748800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr19:19740200-19751200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr19:19740200-19751400	Strong transcription	Lung	lung
19	chr19:19740200-19751400	Strong transcription	Dnd41	blood
20	chr19:19740200-19753000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:19740400-19747600	Strong transcription	Spleen	Spleen
22	chr19:19740400-19748200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr19:19740400-19750000	Strong transcription	Primary B cells from cord blood	blood
24	chr19:19740400-19751400	Strong transcription	Fetal Thymus	thymus
25	chr19:19740400-19751600	Strong transcription	Brain Germinal Matrix	brain
26	chr19:19740400-19752600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr19:19740600-19748800	Strong transcription	Primary T cells from cord blood	blood
28	chr19:19740600-19749200	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr19:19740600-19750000	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr19:19740600-19751600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr19:19740800-19750200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr19:19740800-19751400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr19:19740800-19753000	Strong transcription	Fetal Stomach	stomach
34	chr19:19741000-19749600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr19:19741000-19749600	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr19:19741000-19751400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr19:19741000-19752600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr19:19742000-19746600	Strong transcription	Aorta	Aorta
39	chr19:19742000-19751400	Strong transcription	Fetal Brain Female	brain
40	chr19:19742200-19752600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr19:19743000-19746600	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr19:19743000-19748000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr19:19743200-19746800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr19:19743200-19748000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:19743200-19748200	Strong transcription	NHEK	skin
46	chr19:19743200-19751000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr19:19743200-19751600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr19:19743400-19746400	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr19:19743400-19746400	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr19:19743400-19746600	Strong transcription	HUES48 Cell Line	embryonic stem cell

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