Variant report

Variant	rs58991245
Chromosome Location	chr19:36512546-36512547
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	chr19:36505412..36512625-chr19:36513263..36519988,12	K562	blood:
2	chr19:36511163..36512753-chr19:36521664..36523189,2	K562	blood:

Variant related genes	Relation type
ENSG00000105270	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10412081	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11881428	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57255566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73607766	0.96[EUR][1000 genomes]
rs73607776	0.82[EUR][1000 genomes]
rs73607778	0.96[EUR][1000 genomes]
rs8111422	0.82[EUR][1000 genomes]
rs8112690	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
5	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv911641	chr19:36473677-36536938	Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36505600-36521000	Weak transcription	Fetal Brain Male	brain
2	chr19:36505800-36513200	Weak transcription	Gastric	stomach
3	chr19:36505800-36514800	Weak transcription	NHDF-Ad	bronchial
4	chr19:36505800-36522000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:36505800-36522200	Weak transcription	Fetal Kidney	kidney
6	chr19:36505800-36522800	Weak transcription	Small Intestine	intestine
7	chr19:36506000-36513800	Weak transcription	Primary B cells from cord blood	blood
8	chr19:36506000-36513800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr19:36506000-36514000	Weak transcription	Pancreas	Pancrea
10	chr19:36506000-36514200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr19:36506000-36514400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr19:36506000-36522400	Weak transcription	NH-A	brain
13	chr19:36506000-36522800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr19:36506000-36523000	Weak transcription	HSMM	muscle
15	chr19:36506000-36523200	Weak transcription	Left Ventricle	heart
16	chr19:36506000-36523600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr19:36506200-36512600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr19:36506200-36513000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr19:36506200-36513000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr19:36506200-36514000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr19:36506200-36514000	Weak transcription	Liver	Liver
22	chr19:36506200-36514200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr19:36506200-36514600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr19:36506200-36514600	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr19:36506200-36514800	Weak transcription	HMEC	breast
26	chr19:36506200-36517600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr19:36506200-36519400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr19:36506200-36519400	Strong transcription	Fetal Brain Female	brain
29	chr19:36506200-36522400	Strong transcription	Fetal Stomach	stomach
30	chr19:36506200-36522800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr19:36506200-36523000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr19:36506200-36523200	Weak transcription	HUVEC	blood vessel
33	chr19:36506200-36523400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr19:36506200-36523400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr19:36506400-36512800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr19:36506400-36518800	Strong transcription	Osteobl	bone
37	chr19:36506400-36519600	Strong transcription	Fetal Muscle Leg	muscle
38	chr19:36506400-36519800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr19:36506400-36519800	Strong transcription	Stomach Smooth Muscle	stomach
40	chr19:36506400-36520400	Strong transcription	Brain Germinal Matrix	brain
41	chr19:36506400-36521600	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr19:36506400-36521800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr19:36506400-36523000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr19:36506400-36544400	Weak transcription	GM12878-XiMat	blood
45	chr19:36506600-36513000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr19:36506600-36518800	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr19:36506600-36519000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr19:36506600-36519600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr19:36506800-36519800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr19:36506800-36532400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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