Variant report

Variant	rs8113012
Chromosome Location	chr19:37099623-37099624
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	chr19:37094753..37097505-chr19:37099237..37101505,2	K562	blood:

Variant related genes	Relation type
ENSG00000161298	Chromatin interaction
ENSG00000186020	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs57839679	1.00[AFR][1000 genomes]
rs59333503	1.00[AFR][1000 genomes]
rs59938693	0.94[AFR][1000 genomes]
rs59942286	0.88[AFR][1000 genomes]
rs60030128	0.88[AFR][1000 genomes]
rs60324139	0.88[AFR][1000 genomes]
rs60794053	0.88[AFR][1000 genomes]
rs60916741	0.89[AFR][1000 genomes]
rs7251026	1.00[AFR][1000 genomes]
rs7254360	1.00[ASW][hapmap];0.82[YRI][hapmap]
rs7255273	0.88[AFR][1000 genomes]
rs7258986	1.00[AFR][1000 genomes]
rs8100920	0.81[AFR][1000 genomes]
rs8112910	1.00[AFR][1000 genomes]
rs8113549	1.00[YRI][hapmap];0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
5	nsv833817	chr19:36978852-37195695	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	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
7	esv3434386	chr19:37073454-37114509	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37096800-37100400	Weak transcription	Psoas Muscle	Psoas
2	chr19:37096800-37100600	Weak transcription	Fetal Intestine Large	intestine
3	chr19:37096800-37104000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:37096800-37110000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:37097000-37099800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr19:37097000-37099800	Weak transcription	HSMM	muscle
7	chr19:37097000-37100200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:37097000-37100400	Weak transcription	Right Ventricle	heart
9	chr19:37097000-37100400	Weak transcription	HSMMtube	muscle
10	chr19:37097000-37100600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr19:37097000-37100800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr19:37097000-37100800	Weak transcription	Aorta	Aorta
13	chr19:37097000-37100800	Weak transcription	Spleen	Spleen
14	chr19:37097000-37102400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr19:37097000-37102400	Weak transcription	Colon Smooth Muscle	Colon
16	chr19:37097000-37104400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:37097000-37106000	Weak transcription	Fetal Thymus	thymus
18	chr19:37097000-37106800	Weak transcription	Stomach Mucosa	stomach
19	chr19:37097000-37107000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr19:37097000-37107000	Weak transcription	Small Intestine	intestine
21	chr19:37097000-37107400	Weak transcription	HUVEC	blood vessel
22	chr19:37097000-37107800	Weak transcription	Gastric	stomach
23	chr19:37097000-37112600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:37097200-37099800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr19:37097200-37099800	Weak transcription	Fetal Heart	heart
26	chr19:37097200-37100200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr19:37097200-37100400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr19:37097200-37100400	Weak transcription	Fetal Kidney	kidney
29	chr19:37097200-37100400	Weak transcription	NH-A	brain
30	chr19:37097200-37100400	Weak transcription	Osteobl	bone
31	chr19:37097200-37100600	Weak transcription	NHDF-Ad	bronchial
32	chr19:37097200-37100800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr19:37097200-37100800	Weak transcription	Fetal Stomach	stomach
34	chr19:37097200-37101000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr19:37097200-37101600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr19:37097200-37101800	Weak transcription	Thymus	Thymus
37	chr19:37097200-37102200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr19:37097200-37102400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr19:37097200-37102600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr19:37097200-37102600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr19:37097200-37102800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr19:37097200-37104400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr19:37097200-37104800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr19:37097200-37105600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr19:37097200-37109600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr19:37097200-37110000	Weak transcription	NHLF	lung
47	chr19:37097400-37100000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr19:37097400-37100800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr19:37097400-37100800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr19:37097400-37105200	Weak transcription	HepG2	liver

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