Variant report

Variant	rs8100552
Chromosome Location	chr19:37659365-37659366
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs57887378	1.00[AMR][1000 genomes]
rs7258160	1.00[AMR][1000 genomes]
rs8100052	1.00[AMR][1000 genomes]
rs8100630	1.00[AMR][1000 genomes]
rs8100725	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs8101258	0.87[YRI][hapmap]
rs8113230	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
7	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription 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 miRNA target site	25 gene(s)	inside rSNPs	diseases
8	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers 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 target site	25 gene(s)	inside rSNPs	diseases
9	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS 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	22 gene(s)	inside rSNPs	diseases
10	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS 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 target site	17 gene(s)	inside rSNPs	diseases
12	nsv911654	chr19:37487632-37758082	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking 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 miRNA target site	16 gene(s)	inside rSNPs	diseases
13	nsv2477	chr19:37617348-37662207	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
14	esv3433517	chr19:37643755-37675928	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv911655	chr19:37646745-37758082	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription 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	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37613800-37662200	ZNF genes & repeats	Liver	Liver
2	chr19:37635200-37661400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr19:37635200-37661600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:37639400-37663200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:37643000-37661400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr19:37643000-37662000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:37643200-37660800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr19:37643200-37661400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr19:37643200-37662400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:37643400-37659400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
11	chr19:37643400-37659600	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr19:37643400-37660800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
13	chr19:37643400-37661400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr19:37643400-37661400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
15	chr19:37643800-37662000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr19:37645600-37661600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr19:37646400-37662000	ZNF genes & repeats	Fetal Lung	lung
18	chr19:37651200-37660000	Strong transcription	Stomach Smooth Muscle	stomach
19	chr19:37651200-37663000	Weak transcription	HSMMtube	muscle
20	chr19:37652200-37662800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr19:37652600-37661200	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr19:37652600-37663000	Weak transcription	NH-A	brain
23	chr19:37652800-37663200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr19:37653200-37660600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr19:37653200-37661200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
26	chr19:37653600-37661200	Strong transcription	Osteobl	bone
27	chr19:37653800-37661200	Strong transcription	Placenta	Placenta
28	chr19:37654200-37660800	Strong transcription	Brain Cingulate Gyrus	brain
29	chr19:37654600-37661200	ZNF genes & repeats	Fetal Intestine Large	intestine
30	chr19:37655000-37661200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr19:37655400-37660200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr19:37655400-37661200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
33	chr19:37655600-37659400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr19:37655600-37659400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
35	chr19:37655600-37661200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr19:37655600-37661200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr19:37655600-37661400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr19:37655600-37661600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr19:37655600-37661800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
40	chr19:37655800-37660400	Weak transcription	NHLF	lung
41	chr19:37656000-37662800	Weak transcription	HMEC	breast
42	chr19:37656200-37660400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr19:37656200-37660600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr19:37656200-37661000	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr19:37656400-37663200	Weak transcription	Stomach Mucosa	stomach
46	chr19:37656600-37659400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr19:37656800-37659600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
48	chr19:37656800-37660800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr19:37656800-37661000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
50	chr19:37657000-37659400	ZNF genes & repeats	Aorta	Aorta

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