Variant report

Variant	rs16978738
Chromosome Location	chr19:44636802-44636803
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44635509..44637691-chr19:44639057..44641237,2	K562	blood:
2	chr19:44635011..44637758-chr19:44680578..44683004,2	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10153465	0.86[ASN][1000 genomes]
rs10153499	0.84[ASN][1000 genomes]
rs10406980	0.81[JPT][hapmap]
rs10408004	0.90[ASN][1000 genomes]
rs10409884	0.82[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs10409954	0.88[ASN][1000 genomes]
rs10410283	0.85[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs10415563	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs10415664	0.94[ASN][1000 genomes]
rs10416230	0.85[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs10416292	0.86[ASN][1000 genomes]
rs10417178	0.85[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs10420465	0.85[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs10422555	0.86[ASN][1000 genomes]
rs10422609	0.85[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs10424371	0.90[ASN][1000 genomes]
rs10425881	0.90[ASN][1000 genomes]
rs1106562	0.85[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs11878679	0.90[ASN][1000 genomes]
rs11878720	0.90[ASN][1000 genomes]
rs11879588	0.84[ASN][1000 genomes]
rs11879843	0.80[ASN][1000 genomes]
rs13346417	0.87[ASN][1000 genomes]
rs1474060	0.87[EUR][1000 genomes]
rs16959114	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs16978665	1.00[JPT][hapmap]
rs16978794	0.85[CHB][hapmap];0.81[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16978836	0.85[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs1881748	0.85[CHB][hapmap];0.81[JPT][hapmap];0.84[MEX][hapmap];0.90[ASN][1000 genomes]
rs2141524	0.85[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs2141525	0.88[ASN][1000 genomes]
rs2178342	0.85[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs28422007	0.81[ASN][1000 genomes]
rs28521615	0.89[ASN][1000 genomes]
rs3746322	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3803932	0.85[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs4802212	0.85[CHB][hapmap];0.90[ASN][1000 genomes]
rs4802213	0.90[ASN][1000 genomes]
rs4803683	0.82[CHB][hapmap];0.96[ASN][1000 genomes]
rs4803685	0.82[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs4803686	0.85[CHB][hapmap];0.81[CHD][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs4803688	0.85[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs55732275	0.90[ASN][1000 genomes]
rs57418162	0.90[ASN][1000 genomes]
rs57451052	0.90[ASN][1000 genomes]
rs58358390	0.90[ASN][1000 genomes]
rs58537897	1.00[EUR][1000 genomes]
rs59576456	0.90[ASN][1000 genomes]
rs59774711	0.84[ASN][1000 genomes]
rs60379253	0.90[ASN][1000 genomes]
rs60747128	0.90[ASN][1000 genomes]
rs6509142	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6509144	0.96[ASN][1000 genomes]
rs6509147	1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs6509148	0.85[CHB][hapmap];0.90[ASN][1000 genomes]
rs7248797	0.90[ASN][1000 genomes]
rs7249992	0.85[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs7250439	1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.85[ASN][1000 genomes]
rs7254034	0.90[ASN][1000 genomes]
rs7254458	0.81[JPT][hapmap]
rs7259777	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7260367	0.85[CHB][hapmap];0.90[ASN][1000 genomes]
rs7260588	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs73564059	0.90[ASN][1000 genomes]
rs73564095	0.90[ASN][1000 genomes]
rs8104126	1.00[EUR][1000 genomes]
rs8106828	0.85[ASN][1000 genomes]
rs8107252	0.85[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs8108504	0.90[ASN][1000 genomes]
rs8108908	0.85[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs8111388	1.00[CHB][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap];0.96[ASN][1000 genomes]
rs8111562	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs922063	0.81[JPT][hapmap]
rs922064	0.81[JPT][hapmap]
rs9304639	1.00[CHB][hapmap];0.90[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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44619600-44637200	Strong transcription	Cortex derived primary cultured neurospheres	brain
2	chr19:44619600-44638600	ZNF genes & repeats	Liver	Liver
3	chr19:44622800-44645000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr19:44623400-44637200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
5	chr19:44623400-44637800	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr19:44623400-44638800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:44623800-44640600	Weak transcription	HepG2	liver
8	chr19:44624200-44637400	ZNF genes & repeats	Fetal Lung	lung
9	chr19:44625400-44639000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr19:44626000-44637000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
11	chr19:44630200-44637000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr19:44630400-44637200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:44630400-44637200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
14	chr19:44630600-44637600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
15	chr19:44630600-44645000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr19:44631000-44637200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:44631200-44639200	ZNF genes & repeats	Psoas Muscle	Psoas
18	chr19:44632200-44637000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr19:44632200-44637600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
20	chr19:44632600-44637600	ZNF genes & repeats	A549	lung
21	chr19:44633000-44637000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
22	chr19:44633000-44637800	ZNF genes & repeats	Fetal Muscle Leg	muscle
23	chr19:44633200-44637000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
24	chr19:44633200-44637000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
25	chr19:44633600-44638600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr19:44633800-44637000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:44633800-44637200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
28	chr19:44634600-44637200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
29	chr19:44635000-44637000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
30	chr19:44635000-44637000	ZNF genes & repeats	NH-A	brain
31	chr19:44635000-44637200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr19:44635000-44637200	ZNF genes & repeats	HSMM	muscle
33	chr19:44635000-44637400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
34	chr19:44635000-44637400	ZNF genes & repeats	Fetal Kidney	kidney
35	chr19:44635000-44637600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:44635000-44637600	ZNF genes & repeats	Primary B cells from cord blood	blood
37	chr19:44635000-44638400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
38	chr19:44635200-44637200	ZNF genes & repeats	Fetal Brain Male	brain
39	chr19:44635400-44637400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr19:44635400-44637400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
41	chr19:44635800-44645000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr19:44636000-44637400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr19:44636000-44644800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr19:44636000-44645000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr19:44636000-44645000	Weak transcription	Brain Angular Gyrus	brain
46	chr19:44636000-44645200	Weak transcription	Fetal Thymus	thymus
47	chr19:44636200-44637200	Weak transcription	NHLF	lung
48	chr19:44636200-44637600	Strong transcription	Fetal Brain Female	brain
49	chr19:44636200-44643600	Weak transcription	Fetal Heart	heart
50	chr19:44636200-44645000	Weak transcription	NHDF-Ad	bronchial

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