Variant report

Variant	rs62138063
Chromosome Location	chr19:18993503-18993504
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18991039..18992593-chr19:18993016..18994928,3	K562	blood:
2	chr19:18990993..18992539-chr19:18993328..18994928,2	K562	blood:
3	chr19:18992522..18994119-chr19:18996300..18998941,2	K562	blood:
4	chr19:18993425..18995899-chr19:19009767..19011976,2	K562	blood:

Variant related genes	Relation type
ENSG00000105669	Chromatin interaction
ENSG00000269694	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1005620	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10401653	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4808163	0.83[ASN][1000 genomes]
rs4808165	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6511008	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911293	chr19:18872917-19050957	Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv911294	chr19:18872917-19093619	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv833777	chr19:18875936-19031076	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv911297	chr19:18928480-19077385	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv911298	chr19:18928480-19093619	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv911300	chr19:18944025-19093619	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	nsv470132	chr19:18964442-19054720	Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv828473	chr19:18975130-18994875	Enhancers Strong transcription Genic enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18980400-19004000	Weak transcription	Psoas Muscle	Psoas
2	chr19:18980400-19004200	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr19:18981400-18998000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:18981800-18997800	Weak transcription	Ovary	ovary
5	chr19:18981800-19005800	Weak transcription	Right Atrium	heart
6	chr19:18982000-19002200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr19:18982400-18995200	Strong transcription	Brain Anterior Caudate	brain
8	chr19:18982600-19000800	Weak transcription	Colon Smooth Muscle	Colon
9	chr19:18983400-18998200	Strong transcription	Brain Cingulate Gyrus	brain
10	chr19:18984000-18995600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr19:18984000-19004200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr19:18984600-18995000	Strong transcription	Brain Hippocampus Middle	brain
13	chr19:18984800-18995200	Strong transcription	Brain Angular Gyrus	brain
14	chr19:18984800-18995200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr19:18985600-19004400	Weak transcription	Fetal Brain Male	brain
16	chr19:18986600-18995000	Strong transcription	Skeletal Muscle Female	skeletal muscle
17	chr19:18987200-19004200	Weak transcription	HSMMtube	muscle
18	chr19:18988000-18995200	Strong transcription	Skeletal Muscle Male	skeletal muscle
19	chr19:18988000-19005400	Weak transcription	A549	lung
20	chr19:18988200-18993800	Weak transcription	Aorta	Aorta
21	chr19:18988200-18994400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr19:18988200-18995600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr19:18988200-19004800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr19:18988400-18995200	Strong transcription	Brain Germinal Matrix	brain
25	chr19:18988400-18995200	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr19:18988400-18995200	Strong transcription	Fetal Muscle Trunk	muscle
27	chr19:18988400-18996000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr19:18988400-18998400	Strong transcription	Fetal Muscle Leg	muscle
29	chr19:18988800-18994200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr19:18989200-18999000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:18989200-18999200	Strong transcription	Fetal Brain Female	brain
32	chr19:18989800-18994000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr19:18989800-18994200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr19:18989800-18994600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr19:18990200-18993800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr19:18990200-18994200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr19:18990200-19004000	Strong transcription	Fetal Stomach	stomach
38	chr19:18990400-18997600	Weak transcription	Gastric	stomach
39	chr19:18990400-18997800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr19:18991000-18995000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr19:18991200-18994600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr19:18991400-18994200	Weak transcription	Placenta	Placenta
43	chr19:18991400-18994200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr19:18991400-18994400	Weak transcription	Stomach Mucosa	stomach
45	chr19:18991400-18994400	Weak transcription	K562	blood
46	chr19:18991400-18995200	Strong transcription	Brain Substantia Nigra	brain
47	chr19:18991400-19004400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr19:18991600-18994200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr19:18991600-18994200	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr19:18991600-18994200	Weak transcription	Hela-S3	cervix

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