Variant report

Variant	rs10425480
Chromosome Location	chr19:41278020-41278021
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	ZNF263	chr19:41277586-41278084	HEK293-T-REx	kidney:	n/a	n/a
2	POLR2A	chr19:41277996-41278290	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:41276921..41279823-chr19:41282678..41284570,2	MCF-7	breast:
2	chr19:41274845..41278396-chr19:41279079..41284996,6	K562	blood:
3	chr19:41267917..41272263-chr19:41274538..41279747,5	K562	blood:

Variant related genes	Relation type
MIA	TF binding region
ENSG00000261857	Chromatin interaction
ENSG00000171570	Chromatin interaction
ENSG00000077312	Chromatin interaction
ENSG00000167578	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10404944	0.91[EUR][1000 genomes]
rs10412175	1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs2287691	0.95[YRI][hapmap];0.89[AFR][1000 genomes]
rs3875144	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802033	chr19:41256131-41284240	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	40 gene(s)	inside rSNPs	diseases
2	esv1801805	chr19:41256581-41284363	Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases
3	nsv833832	chr19:41260363-41334597	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41258000-41283000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:41260800-41283200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr19:41261800-41278200	Strong transcription	Fetal Stomach	stomach
4	chr19:41261800-41282800	Weak transcription	Right Atrium	heart
5	chr19:41270400-41282600	Weak transcription	Fetal Brain Male	brain
6	chr19:41271800-41279800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr19:41271800-41279800	Weak transcription	HMEC	breast
8	chr19:41271800-41282600	Weak transcription	Fetal Kidney	kidney
9	chr19:41271800-41282600	Weak transcription	HSMM	muscle
10	chr19:41271800-41283000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr19:41272000-41279400	Weak transcription	Ovary	ovary
12	chr19:41272000-41280400	Weak transcription	NHEK	skin
13	chr19:41272000-41280600	Weak transcription	NH-A	brain
14	chr19:41272000-41281200	Weak transcription	Osteobl	bone
15	chr19:41272000-41282600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr19:41272000-41282600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr19:41272000-41282600	Weak transcription	Brain Angular Gyrus	brain
18	chr19:41272000-41282600	Weak transcription	HUVEC	blood vessel
19	chr19:41272000-41282800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr19:41272000-41282800	Weak transcription	Psoas Muscle	Psoas
21	chr19:41272000-41282800	Weak transcription	Small Intestine	intestine
22	chr19:41272000-41282800	Weak transcription	NHDF-Ad	bronchial
23	chr19:41272200-41280800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr19:41272200-41280800	Weak transcription	Stomach Mucosa	stomach
25	chr19:41272200-41281200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr19:41272200-41281200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr19:41272200-41281200	Weak transcription	K562	blood
28	chr19:41272200-41282600	Weak transcription	Fetal Lung	lung
29	chr19:41272200-41282600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr19:41272200-41282600	Weak transcription	Dnd41	blood
31	chr19:41272200-41282600	Weak transcription	HSMMtube	muscle
32	chr19:41272200-41282600	Weak transcription	NHLF	lung
33	chr19:41272200-41282800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr19:41272200-41282800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr19:41272200-41282800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr19:41272200-41282800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr19:41272200-41282800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr19:41272200-41282800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr19:41272200-41282800	Weak transcription	Aorta	Aorta
40	chr19:41272200-41282800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr19:41272200-41282800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr19:41272200-41282800	Weak transcription	Brain Substantia Nigra	brain
43	chr19:41272200-41282800	Weak transcription	Esophagus	oesophagus
44	chr19:41272200-41282800	Weak transcription	Gastric	stomach
45	chr19:41272200-41282800	Weak transcription	Left Ventricle	heart
46	chr19:41272200-41282800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr19:41272200-41282800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr19:41272200-41282800	Weak transcription	Hela-S3	cervix
49	chr19:41272200-41283000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr19:41272400-41281000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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