Variant report

Variant	rs7253384
Chromosome Location	chr19:44343243-44343244
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44341536..44343816-chr19:44343993..44346090,2	K562	blood:
2	chr19:44342723..44344793-chr19:44350333..44352152,2	K562	blood:
3	chr19:44341545..44343672-chr19:44355013..44357623,2	K562	blood:
4	chr19:44341675..44344462-chr19:44346116..44348112,2	K562	blood:
5	chr19:44341536..44343586-chr19:44343855..44345493,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1036246	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10405318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10408461	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10412955	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10415344	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10416116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10421861	0.84[CEU][hapmap];0.99[EUR][1000 genomes]
rs10500286	0.96[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10500287	0.96[CEU][hapmap];0.93[CHB][hapmap];0.81[JPT][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11878787	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11879541	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11880651	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12462507	0.94[ASN][1000 genomes]
rs12608578	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13344589	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1549953	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1549954	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1549955	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1549956	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1549957	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1549959	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1565057	0.92[CEU][hapmap];0.93[CHB][hapmap];0.81[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17712224	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1909	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1964381	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1994414	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1994415	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1994416	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2016345	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2099356	0.94[ASN][1000 genomes]
rs2163855	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2195981	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2217669	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2356401	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2356403	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2356432	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2356433	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2356434	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2356438	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2356439	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs239948	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs239949	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2883946	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs349032	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4511643	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57096959	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57133938	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59503823	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60036744	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60085895	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62114569	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62118368	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62118369	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62118371	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62118372	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6509120	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7247308	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7247863	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7248807	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7249057	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7249413	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7253002	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7253606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7254659	0.86[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7259647	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73052639	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73052665	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7508701	0.96[ASN][1000 genomes]
rs8099861	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8106802	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8112065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8113286	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv458710	chr19:44339960-44410846	Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv579853	chr19:44339960-44410846	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44332000-44344400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:44332400-44343400	Weak transcription	Stomach Mucosa	stomach
3	chr19:44332800-44343400	Strong transcription	Fetal Muscle Trunk	muscle
4	chr19:44332800-44348200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr19:44332800-44357200	ZNF genes & repeats	Liver	Liver
6	chr19:44333600-44357400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:44333800-44343800	Strong transcription	Placenta Amnion	Placenta Amnion
8	chr19:44334000-44347400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
9	chr19:44334000-44353200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr19:44335200-44346200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr19:44335200-44357200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr19:44335200-44368200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr19:44335400-44346000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:44335400-44357200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
15	chr19:44335400-44366600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
16	chr19:44336600-44357600	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr19:44336800-44353000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
18	chr19:44336800-44356800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
19	chr19:44336800-44357200	ZNF genes & repeats	Fetal Lung	lung
20	chr19:44337200-44347800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
21	chr19:44337800-44347600	ZNF genes & repeats	Fetal Muscle Leg	muscle
22	chr19:44338000-44349600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
23	chr19:44338000-44352800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr19:44339000-44349600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
25	chr19:44339000-44352800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
26	chr19:44339000-44355400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
27	chr19:44339200-44344200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
28	chr19:44339200-44344600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:44339200-44345400	ZNF genes & repeats	Fetal Brain Male	brain
30	chr19:44339200-44347600	ZNF genes & repeats	Fetal Brain Female	brain
31	chr19:44339200-44347600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
32	chr19:44339200-44348000	ZNF genes & repeats	Colonic Mucosa	Colon
33	chr19:44339200-44348200	ZNF genes & repeats	Psoas Muscle	Psoas
34	chr19:44339200-44348400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr19:44339200-44349000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
36	chr19:44339200-44349000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
37	chr19:44339200-44349400	ZNF genes & repeats	A549	lung
38	chr19:44339200-44349600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
39	chr19:44339200-44349600	ZNF genes & repeats	Brain Angular Gyrus	brain
40	chr19:44339200-44355400	ZNF genes & repeats	Primary B cells from cord blood	blood
41	chr19:44339200-44355400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
42	chr19:44339200-44357200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr19:44339400-44347000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
44	chr19:44339400-44347800	ZNF genes & repeats	Brain Germinal Matrix	brain
45	chr19:44339400-44348200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr19:44339400-44349600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
47	chr19:44339400-44349600	ZNF genes & repeats	Brain Substantia Nigra	brain
48	chr19:44339400-44350200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
49	chr19:44339400-44352600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
50	chr19:44339400-44352600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood

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