Variant report

Variant	rs67602609
Chromosome Location	chr19:52641015-52641016
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:52636537..52639802-chr19:52640245..52644732,7	K562	blood:
2	chr19:52636521..52639563-chr19:52639580..52641755,3	MCF-7	breast:
3	chr19:52641013..52643402-chr19:52771783..52774070,3	MCF-7	breast:
4	chr19:52598248..52599902-chr19:52638562..52641237,2	MCF-7	breast:
5	chr19:52641011..52643212-chr19:52671736..52674683,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197608	Chromatin interaction
ENSG00000238630	Chromatin interaction
ENSG00000196267	Chromatin interaction
ENSG00000196214	Chromatin interaction
ENSG00000267927	Chromatin interaction
ENSG00000256087	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12459201	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12459227	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59541557	0.93[EUR][1000 genomes]
rs60164622	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60937535	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61573127	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67170112	0.93[EUR][1000 genomes]
rs67861844	0.93[EUR][1000 genomes]
rs8103346	0.81[EUR][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	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
2	esv3366000	chr19:52491073-52842946	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS 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 miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52616200-52641200	ZNF genes & repeats	Dnd41	blood
2	chr19:52616200-52641400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr19:52616200-52641600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:52616400-52641400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr19:52617400-52641400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
6	chr19:52628800-52641400	Weak transcription	Brain Substantia Nigra	brain
7	chr19:52629000-52641200	Weak transcription	Right Ventricle	heart
8	chr19:52629400-52641200	Weak transcription	Colon Smooth Muscle	Colon
9	chr19:52629400-52641600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr19:52629600-52641800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr19:52629800-52641200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:52631400-52641200	Weak transcription	K562	blood
13	chr19:52632000-52641200	Weak transcription	Brain Anterior Caudate	brain
14	chr19:52633600-52641200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr19:52633600-52641600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr19:52633800-52641200	Weak transcription	Brain Angular Gyrus	brain
17	chr19:52633800-52641200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr19:52633800-52641200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr19:52633800-52641600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr19:52634000-52641200	Weak transcription	Brain Hippocampus Middle	brain
21	chr19:52634000-52641200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr19:52634000-52641400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr19:52634000-52642000	Weak transcription	Small Intestine	intestine
24	chr19:52634200-52641200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr19:52634200-52641200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr19:52634200-52641200	Weak transcription	Aorta	Aorta
27	chr19:52634200-52641200	Weak transcription	Left Ventricle	heart
28	chr19:52634200-52641200	Weak transcription	Pancreas	Pancrea
29	chr19:52634800-52641600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr19:52634800-52642000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr19:52636000-52641800	Weak transcription	Ovary	ovary
32	chr19:52637400-52641200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr19:52637400-52641200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr19:52637400-52641800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr19:52637600-52641800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr19:52638400-52641200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr19:52638600-52641200	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr19:52638800-52641200	Weak transcription	NHDF-Ad	bronchial
39	chr19:52638800-52641200	Weak transcription	Osteobl	bone
40	chr19:52639000-52641200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr19:52639000-52641200	Weak transcription	Thymus	Thymus
42	chr19:52639000-52641200	Weak transcription	Spleen	Spleen
43	chr19:52639000-52641600	Weak transcription	Colonic Mucosa	Colon
44	chr19:52639000-52641800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr19:52639000-52642000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr19:52639200-52641600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr19:52639400-52641200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr19:52639400-52641200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr19:52639400-52641400	Weak transcription	Stomach Mucosa	stomach
50	chr19:52639800-52641200	Weak transcription	Fetal Stomach	stomach

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