Variant report

Variant	rs7583803
Chromosome Location	chr2:30375206-30375207
allele	G/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	POLR2A	chr2:30375103-30375639	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr2:30374631-30375358	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30366474..30375732-chr2:30375765..30384167,14	MCF-7	breast:
2	chr2:30369876..30376242-chr2:30376921..30381158,8	K562	blood:

Variant related genes	Relation type
YPEL5	TF binding region
ENSG00000119801	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10171126	0.90[AMR][1000 genomes]
rs10190925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13387960	0.90[AMR][1000 genomes]
rs13388821	0.81[AMR][1000 genomes]
rs13401621	0.90[AMR][1000 genomes]
rs13402417	0.81[AMR][1000 genomes]
rs13403955	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs13412185	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs13414174	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13415390	0.81[AMR][1000 genomes]
rs13415732	0.90[AMR][1000 genomes]
rs13417286	0.90[AMR][1000 genomes]
rs13419838	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13424818	0.81[AMR][1000 genomes]
rs60363102	0.90[AMR][1000 genomes]
rs6547995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72861874	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7561610	0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription 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 target site	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30371000-30380200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:30371000-30380600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:30371400-30380000	Weak transcription	Esophagus	oesophagus
4	chr2:30371400-30380000	Weak transcription	Dnd41	blood
5	chr2:30371400-30380200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:30371400-30384800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:30371600-30375400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:30371600-30376000	Weak transcription	Pancreas	Pancrea
9	chr2:30371600-30380200	Weak transcription	Colonic Mucosa	Colon
10	chr2:30371800-30385000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:30372200-30378800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:30372400-30378400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:30372800-30376200	Weak transcription	Gastric	stomach
14	chr2:30372800-30376600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:30372800-30377400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:30372800-30378600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:30372800-30378600	Weak transcription	Stomach Mucosa	stomach
18	chr2:30372800-30379600	Weak transcription	Fetal Stomach	stomach
19	chr2:30372800-30379600	Weak transcription	Lung	lung
20	chr2:30372800-30380200	Weak transcription	Fetal Brain Male	brain
21	chr2:30373000-30375400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr2:30373000-30376000	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr2:30373000-30376200	Weak transcription	Spleen	Spleen
24	chr2:30373000-30377400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr2:30373000-30379600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:30373200-30375600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr2:30373200-30378600	Weak transcription	Fetal Kidney	kidney
28	chr2:30373200-30379400	Weak transcription	Brain Angular Gyrus	brain
29	chr2:30373200-30379600	Weak transcription	Brain Anterior Caudate	brain
30	chr2:30373200-30379600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:30373200-30379800	Weak transcription	Fetal Brain Female	brain
32	chr2:30373200-30380200	Weak transcription	Brain Germinal Matrix	brain
33	chr2:30373200-30380400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:30373200-30396400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:30373400-30375600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr2:30373400-30375600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:30373400-30376000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:30373400-30376000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr2:30373400-30376200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:30373400-30376200	Weak transcription	NH-A	brain
41	chr2:30373400-30376800	Weak transcription	Aorta	Aorta
42	chr2:30373400-30378800	Weak transcription	Left Ventricle	heart
43	chr2:30373400-30379200	Weak transcription	Brain Hippocampus Middle	brain
44	chr2:30373400-30380200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr2:30373400-30381400	Weak transcription	HMEC	breast
46	chr2:30373600-30375400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:30373600-30376200	Weak transcription	Liver	Liver
48	chr2:30373600-30376200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr2:30373600-30376200	Weak transcription	NHDF-Ad	bronchial
50	chr2:30373600-30378800	Weak transcription	NHEK	skin

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