Variant report

Variant	rs2178342
Chromosome Location	chr19:44680489-44680490
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44669725..44671336-chr19:44679005..44681549,2	K562	blood:

Variant related genes	Relation type
ENSG00000167380	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10153465	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10153499	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10405281	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10406980	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10408004	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10409884	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10409954	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10410283	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10412910	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10415563	1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs10415664	0.88[ASN][1000 genomes]
rs10416230	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10416292	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10417178	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10420465	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10422555	0.96[ASN][1000 genomes]
rs10422609	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10424371	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10425146	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10425881	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10426314	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1106562	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];0.96[ASN][1000 genomes]
rs11140	0.90[JPT][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11878679	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11878720	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11879588	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11879843	0.90[ASN][1000 genomes]
rs13346417	0.82[ASN][1000 genomes]
rs16959114	0.85[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs16978665	0.83[JPT][hapmap]
rs16978738	0.85[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs16978794	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16978836	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1881748	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2141524	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2141525	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28422007	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3746322	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs3803932	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3810137	0.92[JPT][hapmap];0.85[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4802212	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4802213	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4802215	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4803683	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4803685	1.00[CHB][hapmap];0.92[JPT][hapmap];0.80[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4803686	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4803688	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4803692	0.85[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4803693	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55732275	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57418162	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57451052	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58358390	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59576456	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59774711	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60379253	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60747128	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6509142	0.81[JPT][hapmap]
rs6509144	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6509147	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6509148	1.00[CHB][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7248797	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7249992	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7250439	0.81[JPT][hapmap]
rs7254034	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7254458	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7259777	0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs7260367	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7260588	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs73564059	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73564095	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8107252	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]
rs8108504	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8108908	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8111388	0.85[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs8111562	0.83[JPT][hapmap]
rs922063	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs922064	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9304639	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44670600-44681600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
2	chr19:44670600-44688200	ZNF genes & repeats	Liver	Liver
3	chr19:44670800-44681200	ZNF genes & repeats	Ovary	ovary
4	chr19:44670800-44681800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:44670800-44682000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
6	chr19:44670800-44682000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
7	chr19:44670800-44682200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:44670800-44683000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr19:44670800-44683200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
10	chr19:44671000-44681800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:44671200-44680600	Strong transcription	Placenta Amnion	Placenta Amnion
12	chr19:44671200-44681600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr19:44671200-44682200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
14	chr19:44671400-44682600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:44672000-44681600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
16	chr19:44672000-44681800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
17	chr19:44673400-44681400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
18	chr19:44674800-44681200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
19	chr19:44675200-44681800	ZNF genes & repeats	Fetal Lung	lung
20	chr19:44675400-44680800	Strong transcription	Fetal Brain Male	brain
21	chr19:44675400-44681400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
22	chr19:44675400-44681400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
23	chr19:44675400-44681400	ZNF genes & repeats	Stomach Mucosa	stomach
24	chr19:44675400-44681600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
25	chr19:44675400-44681600	ZNF genes & repeats	Fetal Kidney	kidney
26	chr19:44675400-44681800	ZNF genes & repeats	Colon Smooth Muscle	Colon
27	chr19:44675400-44682000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
28	chr19:44675400-44682000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
29	chr19:44675400-44682000	ZNF genes & repeats	GM12878-XiMat	blood
30	chr19:44675400-44682200	ZNF genes & repeats	A549	lung
31	chr19:44675400-44682600	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
32	chr19:44675400-44687600	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr19:44675600-44681200	ZNF genes & repeats	Spleen	Spleen
34	chr19:44675600-44681400	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
35	chr19:44675600-44681400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
36	chr19:44675600-44681600	Strong transcription	Right Ventricle	heart
37	chr19:44675600-44681800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
38	chr19:44675600-44681800	Strong transcription	HepG2	liver
39	chr19:44675600-44682000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
40	chr19:44675600-44682000	ZNF genes & repeats	Primary T cells from cord blood	blood
41	chr19:44675600-44682000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr19:44675600-44682200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
43	chr19:44675600-44682400	ZNF genes & repeats	Primary B cells from cord blood	blood
44	chr19:44675600-44682600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
45	chr19:44675600-44682600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
46	chr19:44675600-44682800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
47	chr19:44675800-44680600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr19:44675800-44681600	ZNF genes & repeats	Rectal Smooth Muscle	rectum
49	chr19:44675800-44682000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr19:44675800-44682000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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