Variant report

Variant	rs12608984
Chromosome Location	chr19:44647252-44647253
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44596713..44600957-chr19:44644435..44647275,5	MCF-7	breast:
2	chr19:44643597..44647343-chr19:44667648..44671629,7	K562	blood:
3	chr19:44646506..44648023-chr19:44661146..44663023,2	K562	blood:
4	chr19:44616201..44619073-chr19:44644939..44647380,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186019	Chromatin interaction
ENSG00000256294	Chromatin interaction
ENSG00000167380	Chromatin interaction
ENSG00000267680	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10405450	0.86[ASN][1000 genomes]
rs10409155	0.90[EUR][1000 genomes]
rs10410086	0.86[ASN][1000 genomes]
rs10425945	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1236715	0.82[JPT][hapmap]
rs1236716	0.82[JPT][hapmap]
rs12460039	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2085516	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2100643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2168989	0.86[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2232801	0.91[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs2284981	0.82[JPT][hapmap]
rs2293587	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2356751	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2356752	0.88[EUR][1000 genomes]
rs3817595	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4802209	0.90[EUR][1000 genomes]
rs4802210	0.86[CEU][hapmap];0.90[EUR][1000 genomes]
rs4803684	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs56357907	0.89[ASN][1000 genomes]
rs58778698	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60668498	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61412562	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61589395	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62117770	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6509146	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7248114	0.87[ASN][1000 genomes]
rs7249209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7251682	0.81[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs7253533	0.91[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs7260304	0.81[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs8103838	0.87[CEU][hapmap];0.89[EUR][1000 genomes]
rs9304640	0.80[CHB][hapmap];0.90[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833840	chr19:44520620-44715760	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44644800-44647400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:44646600-44647400	Enhancers	Primary T cells fromperipheralblood	blood
3	chr19:44646600-44648600	Weak transcription	Esophagus	oesophagus
4	chr19:44646600-44648800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr19:44646600-44649600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr19:44646600-44650200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:44646600-44652800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr19:44646600-44653400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr19:44646800-44647400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr19:44646800-44647400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr19:44646800-44647400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr19:44646800-44647400	Active TSS	NH-A	brain
13	chr19:44646800-44648000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr19:44646800-44648400	Weak transcription	Primary T cells from cord blood	blood
15	chr19:44646800-44648400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr19:44646800-44648400	Weak transcription	Aorta	Aorta
17	chr19:44646800-44648400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr19:44646800-44648400	Weak transcription	Fetal Muscle Leg	muscle
19	chr19:44646800-44648400	Weak transcription	Placenta	Placenta
20	chr19:44646800-44648400	Weak transcription	Gastric	stomach
21	chr19:44646800-44648400	Weak transcription	Ovary	ovary
22	chr19:44646800-44648600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr19:44646800-44648600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:44646800-44648600	Weak transcription	Primary B cells from cord blood	blood
25	chr19:44646800-44648600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr19:44646800-44648600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr19:44646800-44648600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr19:44646800-44648600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr19:44646800-44648600	Weak transcription	Left Ventricle	heart
30	chr19:44646800-44648600	Weak transcription	Lung	lung
31	chr19:44646800-44648600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr19:44646800-44648600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr19:44646800-44648600	Weak transcription	Thymus	Thymus
34	chr19:44646800-44648800	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr19:44646800-44648800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr19:44646800-44648800	Weak transcription	Fetal Intestine Large	intestine
37	chr19:44646800-44648800	Weak transcription	Fetal Thymus	thymus
38	chr19:44646800-44649000	Weak transcription	Colonic Mucosa	Colon
39	chr19:44646800-44649600	Weak transcription	Fetal Stomach	stomach
40	chr19:44646800-44651400	Weak transcription	Fetal Intestine Small	intestine
41	chr19:44646800-44651400	Weak transcription	Pancreas	Pancrea
42	chr19:44646800-44651600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr19:44646800-44652200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr19:44646800-44652200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr19:44646800-44652200	Weak transcription	Small Intestine	intestine
46	chr19:44646800-44652800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr19:44646800-44653800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr19:44646800-44656600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr19:44646800-44657800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr19:44646800-44660200	Weak transcription	Stomach Mucosa	stomach

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