Variant report

Variant	rs12974966
Chromosome Location	chr19:36649279-36649280
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1049339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13344409	0.97[EUR][1000 genomes]
rs17878680	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34859504	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71354119	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7255180	0.91[AMR][1000 genomes];0.97[EUR][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	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
2	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
3	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
4	esv2752541	chr19:36563057-36690874	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS 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	53 gene(s)	inside rSNPs	diseases
5	nsv911642	chr19:36620778-36651499	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv911643	chr19:36627790-36651499	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv911645	chr19:36628463-36651499	ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv911647	chr19:36629631-36651499	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv579425	chr19:36643695-36685753	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36636000-36650400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr19:36638400-36661600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr19:36640600-36652000	Weak transcription	K562	blood
4	chr19:36641400-36652200	Weak transcription	GM12878-XiMat	blood
5	chr19:36641800-36650600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr19:36641800-36652000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:36641800-36652000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:36642000-36660000	Weak transcription	Stomach Mucosa	stomach
9	chr19:36642200-36650400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr19:36642200-36654200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:36642200-36660000	Weak transcription	Brain Substantia Nigra	brain
12	chr19:36642200-36660000	Weak transcription	Hela-S3	cervix
13	chr19:36642200-36673400	Weak transcription	Primary B cells from cord blood	blood
14	chr19:36642400-36652000	Weak transcription	Primary T cells from cord blood	blood
15	chr19:36642400-36652000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr19:36642400-36661400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr19:36642400-36661400	Weak transcription	Dnd41	blood
18	chr19:36642600-36652600	Weak transcription	Gastric	stomach
19	chr19:36642600-36660000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr19:36642600-36660000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr19:36642800-36661600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr19:36643000-36650400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr19:36643000-36652400	Weak transcription	Pancreas	Pancrea
24	chr19:36643000-36661400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr19:36643000-36661400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr19:36643000-36661400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr19:36643000-36661600	Weak transcription	Liver	Liver
28	chr19:36643000-36661600	Weak transcription	HepG2	liver
29	chr19:36643000-36673800	Weak transcription	NH-A	brain
30	chr19:36643200-36652400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr19:36643600-36652000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr19:36643800-36651600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr19:36643800-36652000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr19:36643800-36652600	Weak transcription	Brain Anterior Caudate	brain
35	chr19:36643800-36652600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr19:36643800-36661400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr19:36643800-36661400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr19:36643800-36661600	Weak transcription	Brain Hippocampus Middle	brain
39	chr19:36643800-36673200	Weak transcription	Brain Germinal Matrix	brain
40	chr19:36644000-36650400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr19:36644000-36652600	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr19:36644000-36660000	Weak transcription	Fetal Kidney	kidney
43	chr19:36644000-36660800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr19:36644000-36661400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr19:36644000-36661400	Weak transcription	Osteobl	bone
46	chr19:36644200-36652000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr19:36644200-36652200	Weak transcription	Colonic Mucosa	Colon
48	chr19:36644200-36652200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr19:36644200-36652200	Weak transcription	Fetal Intestine Large	intestine
50	chr19:36644200-36652400	Weak transcription	Rectal Mucosa Donor 29	rectum

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