Variant report

Variant	rs2945991
Chromosome Location	chr19:36960460-36960461
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36958063..36960933-chr19:36978148..36980352,2	K562	blood:

Variant related genes	Relation type
ENSG00000186017	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2052729	1.00[AMR][1000 genomes]
rs2912413	1.00[AMR][1000 genomes]
rs2912414	1.00[AMR][1000 genomes]
rs2912433	1.00[AMR][1000 genomes]
rs2967454	1.00[AMR][1000 genomes]
rs2967458	1.00[AMR][1000 genomes]
rs3096634	1.00[AMR][1000 genomes]
rs7252295	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833816	chr19:36824257-37034287	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	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
3	nsv911648	chr19:36914171-37047472	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv1067364	chr19:36921204-36985874	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
8	esv3318531	chr19:36957558-36960538	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3318532	chr19:36957558-36960538	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 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	chr19:36936400-36978400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:36941000-36979000	Weak transcription	Hela-S3	cervix
3	chr19:36942400-36962400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr19:36942600-36963000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:36942600-36966200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr19:36942800-36962200	Weak transcription	Right Ventricle	heart
7	chr19:36944400-36961200	Weak transcription	Left Ventricle	heart
8	chr19:36944800-36969600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr19:36945800-36979000	Weak transcription	Fetal Heart	heart
10	chr19:36946000-36963000	Weak transcription	K562	blood
11	chr19:36946400-36962200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr19:36946400-36963400	Weak transcription	NHDF-Ad	bronchial
13	chr19:36947200-36960600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr19:36947600-36977400	ZNF genes & repeats	Liver	Liver
15	chr19:36948000-36962200	Weak transcription	Brain Substantia Nigra	brain
16	chr19:36948200-36960600	Weak transcription	Fetal Kidney	kidney
17	chr19:36948200-36962200	Weak transcription	HSMMtube	muscle
18	chr19:36948400-36961000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr19:36949000-36960800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr19:36951400-36963000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr19:36952400-36962200	Weak transcription	Osteobl	bone
22	chr19:36953200-36967600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:36953200-36967800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr19:36953400-36967600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr19:36953600-36963000	Weak transcription	HepG2	liver
26	chr19:36954000-36972200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr19:36954200-36962800	Weak transcription	Colonic Mucosa	Colon
28	chr19:36954400-36967800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr19:36955200-36961400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
30	chr19:36955200-36963400	Weak transcription	Stomach Mucosa	stomach
31	chr19:36955200-36966400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr19:36955200-36966600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr19:36955400-36966400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
34	chr19:36955600-36967200	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr19:36955800-36965400	Weak transcription	NHEK	skin
36	chr19:36956000-36966000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr19:36956000-36966600	Strong transcription	Dnd41	blood
38	chr19:36956600-36964600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:36956800-36961000	Weak transcription	Pancreas	Pancrea
40	chr19:36957000-36961000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr19:36957000-36963400	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr19:36957200-36962600	Weak transcription	Colon Smooth Muscle	Colon
43	chr19:36957200-36963600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr19:36957200-36966600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr19:36957200-36966600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr19:36957200-36979600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr19:36957400-36961200	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr19:36957400-36962800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr19:36957400-36963000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr19:36957400-36963000	Weak transcription	HSMM	muscle

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