Variant report

Variant	rs61502068
Chromosome Location	chr19:36140986-36140987
allele	A/G
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	CTCF	chr19:36140985-36141066	GM20000	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36138960..36141162-chr19:36141370..36144327,2	K562	blood:
2	chr19:36139069..36141047-chr19:36162643..36164657,2	MCF-7	breast:

Variant related genes	Relation type
COX6B1	TF binding region
ENSG00000226510	Chromatin interaction
ENSG00000126267	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2267582	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2267583	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4805136	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4806186	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7253113	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73931240	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7991	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36140000-36141800	Weak transcription	Gastric	stomach
2	chr19:36140000-36147800	Weak transcription	Aorta	Aorta
3	chr19:36140000-36148800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:36140000-36154000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr19:36140200-36141200	Enhancers	Liver	Liver
6	chr19:36140200-36141400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr19:36140200-36141400	Weak transcription	Brain Hippocampus Middle	brain
8	chr19:36140200-36141400	Weak transcription	Ovary	ovary
9	chr19:36140200-36141400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr19:36140200-36141600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr19:36140200-36141800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr19:36140200-36141800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr19:36140200-36141800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:36140200-36142000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr19:36140200-36142000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr19:36140200-36142200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr19:36140200-36152800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr19:36140400-36141000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr19:36140400-36141000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr19:36140400-36141000	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr19:36140400-36141000	Weak transcription	Fetal Intestine Large	intestine
22	chr19:36140400-36141000	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr19:36140400-36141200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr19:36140400-36141200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr19:36140400-36141200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr19:36140400-36141200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr19:36140400-36141200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:36140400-36141200	Enhancers	Left Ventricle	heart
29	chr19:36140400-36141200	Weak transcription	Right Ventricle	heart
30	chr19:36140400-36141200	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr19:36140400-36141400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr19:36140400-36141400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr19:36140400-36141400	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr19:36140400-36141400	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr19:36140400-36141400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr19:36140400-36141400	Weak transcription	Lung	lung
37	chr19:36140400-36141400	Weak transcription	Spleen	Spleen
38	chr19:36140400-36141400	Weak transcription	HUVEC	blood vessel
39	chr19:36140400-36141600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr19:36140400-36141600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr19:36140400-36141600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr19:36140400-36141600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr19:36140400-36141600	Weak transcription	Brain Anterior Caudate	brain
44	chr19:36140400-36141600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr19:36140400-36141600	Enhancers	Psoas Muscle	Psoas
46	chr19:36140400-36141600	Weak transcription	Thymus	Thymus
47	chr19:36140400-36141600	Enhancers	Dnd41	blood
48	chr19:36140400-36141600	Enhancers	K562	blood
49	chr19:36140400-36141600	Weak transcription	NHEK	skin
50	chr19:36140400-36141800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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