Variant report

Variant	rs6510503
Chromosome Location	chr19:36143992-36143993
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36138960..36141162-chr19:36141370..36144327,2	K562	blood:
2	chr19:36139143..36141150-chr19:36143330..36145702,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126267	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10422762	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12986089	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2285421	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4806187	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61218414	0.82[AMR][1000 genomes];0.90[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	nsv543995	chr19:36139204-36203592	Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6510503	ZBTB32	cis	Nerve Tibial	GTEx
rs6510503	COX6B1	cis	Muscle Skeletal	GTEx
rs6510503	C19orf55	cis	Thyroid	GTEx
rs6510503	RN7SL765P	cis	Muscle Skeletal	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36140000-36147800	Weak transcription	Aorta	Aorta
2	chr19:36140000-36148800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:36140000-36154000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:36140200-36152800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:36140400-36144800	Weak transcription	Brain Angular Gyrus	brain
6	chr19:36140400-36144800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr19:36140400-36144800	Weak transcription	Brain Germinal Matrix	brain
8	chr19:36140400-36144800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr19:36140400-36144800	Weak transcription	HMEC	breast
10	chr19:36140400-36144800	Weak transcription	HSMMtube	muscle
11	chr19:36140400-36144800	Weak transcription	NH-A	brain
12	chr19:36140400-36145000	Weak transcription	Brain Substantia Nigra	brain
13	chr19:36140400-36145200	Weak transcription	Fetal Kidney	kidney
14	chr19:36140400-36145400	Weak transcription	NHDF-Ad	bronchial
15	chr19:36140400-36146000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr19:36140400-36146600	Weak transcription	Fetal Brain Male	brain
17	chr19:36140400-36149200	Weak transcription	Small Intestine	intestine
18	chr19:36140400-36151600	Weak transcription	Stomach Mucosa	stomach
19	chr19:36140400-36164000	Weak transcription	Right Atrium	heart
20	chr19:36140600-36144000	Strong transcription	Placenta	Placenta
21	chr19:36140600-36144800	Weak transcription	Hela-S3	cervix
22	chr19:36140600-36150400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr19:36140600-36153800	Strong transcription	Fetal Intestine Small	intestine
24	chr19:36140600-36157200	Strong transcription	Fetal Stomach	stomach
25	chr19:36140800-36153800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr19:36141000-36155600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr19:36141000-36157000	Strong transcription	Fetal Muscle Trunk	muscle
28	chr19:36141200-36144800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr19:36141400-36156800	Strong transcription	Spleen	Spleen
30	chr19:36141400-36157200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr19:36141600-36147000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr19:36141600-36151200	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr19:36141600-36152600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr19:36141800-36144000	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr19:36141800-36150200	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr19:36141800-36151200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr19:36141800-36152800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr19:36141800-36153000	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr19:36141800-36154000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr19:36141800-36156800	Strong transcription	Fetal Thymus	thymus
41	chr19:36142000-36144800	Weak transcription	Primary B cells from cord blood	blood
42	chr19:36142000-36145400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr19:36142000-36151200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr19:36142000-36151400	Strong transcription	Lung	lung
45	chr19:36142000-36152200	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr19:36142200-36144800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr19:36142200-36144800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr19:36142200-36144800	Weak transcription	HUVEC	blood vessel
49	chr19:36142200-36145000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr19:36142200-36151200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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