Variant report

Variant	rs2458393
Chromosome Location	chr1:150634596-150634597
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:150629283..150630798-chr1:150634001..150635875,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1151917	1.00[MEX][hapmap]
rs1241579	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008805	0.96[AFR][1000 genomes]
rs73008807	0.92[AFR][1000 genomes]
rs73008818	0.83[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	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	esv2829859	chr1:150608894-150937329	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv872417	chr1:150618632-150759979	Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr1:150603200-150661200	Weak transcription	Brain Substantia Nigra	brain
2	chr1:150603400-150668200	Weak transcription	Brain Germinal Matrix	brain
3	chr1:150608600-150668600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:150618800-150660400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:150619200-150637800	Weak transcription	Fetal Heart	heart
6	chr1:150621000-150635600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:150621000-150640400	Weak transcription	Small Intestine	intestine
8	chr1:150621000-150660800	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:150621200-150660400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:150621200-150664800	Weak transcription	Fetal Brain Female	brain
11	chr1:150621200-150665000	Weak transcription	Fetal Kidney	kidney
12	chr1:150621200-150669400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:150621400-150635200	Weak transcription	GM12878-XiMat	blood
14	chr1:150621400-150637000	Weak transcription	Fetal Brain Male	brain
15	chr1:150621400-150639400	Weak transcription	HepG2	liver
16	chr1:150621400-150644200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:150621400-150660400	Weak transcription	HSMM	muscle
18	chr1:150621600-150639600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:150621800-150661200	Weak transcription	NHDF-Ad	bronchial
20	chr1:150621800-150668600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:150622000-150661400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:150622000-150668600	Weak transcription	HSMMtube	muscle
23	chr1:150622000-150669400	Weak transcription	Esophagus	oesophagus
24	chr1:150622200-150660600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:150622800-150637000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr1:150623200-150640800	Weak transcription	Gastric	stomach
27	chr1:150623200-150642200	Weak transcription	Right Ventricle	heart
28	chr1:150623200-150648400	Weak transcription	Lung	lung
29	chr1:150623200-150668600	Weak transcription	Brain Angular Gyrus	brain
30	chr1:150623400-150663000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:150627000-150640600	Weak transcription	Stomach Mucosa	stomach
32	chr1:150627400-150634800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr1:150627400-150638800	Weak transcription	Pancreas	Pancrea
34	chr1:150629400-150636200	Strong transcription	Adipose Nuclei	Adipose
35	chr1:150629400-150636200	Strong transcription	Fetal Intestine Large	intestine
36	chr1:150629400-150636400	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr1:150629400-150636600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:150629600-150634800	Strong transcription	Duodenum Mucosa	Duodenum
39	chr1:150629800-150636600	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:150629800-150636600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:150630000-150636400	Strong transcription	Fetal Muscle Leg	muscle
42	chr1:150630000-150664800	Weak transcription	Thymus	Thymus
43	chr1:150630400-150634800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:150630400-150635200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:150630400-150635400	Strong transcription	Stomach Smooth Muscle	stomach
46	chr1:150630400-150636200	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:150630400-150636400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:150630600-150634600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:150630600-150635200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:150630600-150635600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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