Variant report

Variant	rs7250144
Chromosome Location	chr19:19931891-19931892
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11878966	1.00[EUR][1000 genomes]
rs11879251	1.00[EUR][1000 genomes]
rs11880104	1.00[EUR][1000 genomes]
rs11880646	1.00[AMR][1000 genomes]
rs11882164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11883102	1.00[EUR][1000 genomes]
rs16994695	1.00[AMR][1000 genomes]
rs17378427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34087491	1.00[EUR][1000 genomes]
rs57474361	1.00[EUR][1000 genomes]
rs58294398	1.00[EUR][1000 genomes]
rs60101043	1.00[EUR][1000 genomes]
rs60133934	1.00[EUR][1000 genomes]
rs60610603	1.00[EUR][1000 genomes]
rs61489113	1.00[EUR][1000 genomes]
rs7246535	1.00[AMR][1000 genomes]
rs7247366	1.00[EUR][1000 genomes]
rs7248802	1.00[EUR][1000 genomes]
rs7253515	1.00[EUR][1000 genomes]
rs7257247	1.00[EUR][1000 genomes]
rs7258865	1.00[EUR][1000 genomes]
rs73537247	1.00[EUR][1000 genomes]
rs73537262	1.00[EUR][1000 genomes]
rs73537266	1.00[EUR][1000 genomes]
rs73539233	1.00[EUR][1000 genomes]
rs73539261	1.00[EUR][1000 genomes]
rs73541334	1.00[EUR][1000 genomes]
rs73541344	1.00[EUR][1000 genomes]
rs73541360	1.00[EUR][1000 genomes]
rs73541377	1.00[EUR][1000 genomes]
rs8105557	1.00[EUR][1000 genomes]
rs8111841	1.00[EUR][1000 genomes]
rs8112744	1.00[EUR][1000 genomes]
rs8113100	1.00[EUR][1000 genomes]
rs9676945	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv458375	chr19:19863014-19949209	Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv578798	chr19:19863014-19949209	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv911313	chr19:19866371-19936078	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv911314	chr19:19866371-20021046	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv519535	chr19:19871250-20595412	Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
7	nsv911315	chr19:19872093-20021046	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv911316	chr19:19890450-20021046	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv578799	chr19:19901136-19967970	ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv961192	chr19:19906394-20083740	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	esv3319016	chr19:19917475-20819154	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
12	esv3319017	chr19:19917475-20819154	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 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	chr19:19924400-19933200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr19:19928000-19936600	ZNF genes & repeats	GM12878-XiMat	blood
3	chr19:19929600-19933200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
4	chr19:19931000-19933200	Active TSS	Brain Cingulate Gyrus	brain
5	chr19:19931200-19933000	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr19:19931200-19933000	Active TSS	HMEC	breast
7	chr19:19931200-19933000	Active TSS	NHLF	lung
8	chr19:19931200-19933200	Active TSS	Brain Substantia Nigra	brain
9	chr19:19931200-19933200	Active TSS	Right Atrium	heart
10	chr19:19931400-19932000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr19:19931400-19932000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr19:19931400-19932000	Flanking Active TSS	Fetal Muscle Leg	muscle
13	chr19:19931400-19932600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
14	chr19:19931400-19933000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr19:19931400-19933000	Active TSS	Duodenum Mucosa	Duodenum
16	chr19:19931400-19933000	Active TSS	Fetal Brain Male	brain
17	chr19:19931400-19933200	Active TSS	H1 Cell Line	embryonic stem cell
18	chr19:19931400-19933200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr19:19931400-19933200	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr19:19931400-19933200	Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr19:19931400-19933200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr19:19931400-19933200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr19:19931400-19933200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr19:19931400-19933200	Active TSS	Fetal Kidney	kidney
25	chr19:19931400-19933200	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr19:19931400-19933200	Active TSS	Fetal Lung	lung
27	chr19:19931400-19933200	Active TSS	Right Ventricle	heart
28	chr19:19931600-19932000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr19:19931600-19932000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr19:19931600-19932000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr19:19931600-19932000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr19:19931600-19932000	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr19:19931600-19932200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr19:19931600-19932200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr19:19931600-19932200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr19:19931600-19932200	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr19:19931600-19932600	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr19:19931600-19932600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
39	chr19:19931600-19932600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr19:19931600-19932600	Active TSS	Placenta Amnion	Placenta Amnion
41	chr19:19931600-19932600	Active TSS	HUVEC	blood vessel
42	chr19:19931600-19932600	Active TSS	NHDF-Ad	bronchial
43	chr19:19931600-19933000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr19:19931600-19933000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr19:19931600-19933000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr19:19931600-19933000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr19:19931600-19933000	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr19:19931600-19933000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr19:19931600-19933000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr19:19931600-19933000	Active TSS	Primary T helper naive cells from peripheral blood	blood

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