Variant report

Variant	rs916659
Chromosome Location	chr19:36136920-36136921
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr19:36136701-36136928	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36136475..36140054-chr19:36207952..36210367,3	MCF-7	breast:
2	chr19:36035899..36038196-chr19:36134642..36137047,3	K562	blood:

Variant related genes	Relation type
COX6B1	TF binding region
ENSG00000105677	Chromatin interaction
ENSG00000272333	Chromatin interaction
ENSG00000236144	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2239914	0.96[ASN][1000 genomes]
rs2285414	0.95[ASN][1000 genomes]
rs2285415	0.97[ASN][1000 genomes]
rs4547459	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4806180	0.93[ASN][1000 genomes]
rs4806181	0.95[ASN][1000 genomes]
rs4806183	0.95[ASN][1000 genomes]
rs756783	0.84[ASN][1000 genomes]
rs756784	0.96[ASN][1000 genomes]
rs8110747	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	esv3412605	chr19:36136880-36137107	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs916659	AC002398.13	cis	Thyroid	GTEx

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36135800-36138400	Weak transcription	Lung	lung
2	chr19:36136000-36137000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:36136000-36137000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:36136000-36137000	Enhancers	Placenta	Placenta
5	chr19:36136000-36137000	Enhancers	Fetal Thymus	thymus
6	chr19:36136000-36138600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr19:36136000-36138600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr19:36136000-36138600	Weak transcription	Aorta	Aorta
9	chr19:36136000-36138600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr19:36136000-36138800	Weak transcription	HSMMtube	muscle
11	chr19:36136000-36139200	Weak transcription	Small Intestine	intestine
12	chr19:36136200-36137000	Flanking Active TSS	HepG2	liver
13	chr19:36136200-36137400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr19:36136200-36138400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr19:36136200-36138600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr19:36136200-36138600	Weak transcription	Stomach Mucosa	stomach
17	chr19:36136200-36138800	Weak transcription	Right Atrium	heart
18	chr19:36136400-36137000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr19:36136400-36137000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr19:36136400-36137400	Weak transcription	HSMM	muscle
21	chr19:36136400-36137600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr19:36136400-36138400	Weak transcription	Primary T cells from cord blood	blood
23	chr19:36136400-36138400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr19:36136400-36138400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr19:36136400-36138400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr19:36136400-36138400	Weak transcription	Right Ventricle	heart
27	chr19:36136400-36138600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr19:36136400-36138600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr19:36136400-36138600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr19:36136400-36138600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr19:36136400-36138600	Weak transcription	Primary B cells from cord blood	blood
32	chr19:36136400-36138600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr19:36136400-36138600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr19:36136400-36138600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:36136400-36138600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr19:36136400-36138600	Weak transcription	Brain Angular Gyrus	brain
37	chr19:36136400-36138600	Weak transcription	Brain Anterior Caudate	brain
38	chr19:36136400-36138600	Weak transcription	Brain Germinal Matrix	brain
39	chr19:36136400-36138600	Weak transcription	Brain Hippocampus Middle	brain
40	chr19:36136400-36138600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr19:36136400-36138600	Weak transcription	Brain Substantia Nigra	brain
42	chr19:36136400-36138600	Weak transcription	Colonic Mucosa	Colon
43	chr19:36136400-36138600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr19:36136400-36138600	Weak transcription	Fetal Brain Male	brain
45	chr19:36136400-36138600	Weak transcription	Fetal Intestine Large	intestine
46	chr19:36136400-36138600	Weak transcription	Fetal Kidney	kidney
47	chr19:36136400-36138600	Weak transcription	Psoas Muscle	Psoas
48	chr19:36136400-36138600	Weak transcription	Thymus	Thymus
49	chr19:36136400-36138600	Weak transcription	Hela-S3	cervix
50	chr19:36136400-36138800	Weak transcription	HUVEC	blood vessel

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