Variant report

Variant	rs4957425
Chromosome Location	chr5:41805494-41805495
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:41800412..41802108-chr5:41804338..41806485,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1035486	1.00[AMR][1000 genomes]
rs1355089	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs1494392	0.97[AMR][1000 genomes]
rs1582539	1.00[AMR][1000 genomes]
rs16871741	1.00[AMR][1000 genomes]
rs16871793	1.00[AMR][1000 genomes]
rs16871799	1.00[AMR][1000 genomes]
rs16871844	1.00[AMR][1000 genomes]
rs16871938	1.00[AMR][1000 genomes]
rs16871940	1.00[AMR][1000 genomes]
rs17739462	1.00[AMR][1000 genomes]
rs17847285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1833818	0.94[AMR][1000 genomes]
rs2231917	1.00[AFR][1000 genomes]
rs2329815	1.00[AMR][1000 genomes]
rs34226693	1.00[AFR][1000 genomes]
rs3863161	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3863162	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3863163	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3863164	1.00[AFR][1000 genomes]
rs4245982	0.91[AMR][1000 genomes]
rs4358568	1.00[AFR][1000 genomes]
rs4957160	0.97[AMR][1000 genomes]
rs4957161	1.00[AMR][1000 genomes]
rs4957170	1.00[AMR][1000 genomes]
rs4957171	1.00[AMR][1000 genomes]
rs4957172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957173	1.00[AMR][1000 genomes]
rs4957174	1.00[AMR][1000 genomes]
rs4957175	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4957176	0.82[MEX][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs4957177	0.82[MEX][hapmap];0.88[AMR][1000 genomes]
rs4957403	1.00[AMR][1000 genomes]
rs4957404	1.00[AMR][1000 genomes]
rs4957407	1.00[AMR][1000 genomes]
rs4957409	1.00[AMR][1000 genomes]
rs4957418	1.00[AMR][1000 genomes]
rs4957419	1.00[AMR][1000 genomes]
rs4957421	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4957422	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs4957423	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs4957428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4957429	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs4957431	1.00[AMR][1000 genomes]
rs4957432	1.00[AMR][1000 genomes]
rs4957433	0.94[AMR][1000 genomes]
rs4957435	0.82[MEX][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4957439	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6869822	0.91[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	nsv830271	chr5:41716527-41895710	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv2762518	chr5:41780210-41935113	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	108 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41756200-41813800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:41778200-41838200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:41789600-41808200	Weak transcription	Fetal Intestine Small	intestine
4	chr5:41790400-41814000	Weak transcription	Psoas Muscle	Psoas
5	chr5:41791600-41807600	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr5:41793400-41810400	Weak transcription	Spleen	Spleen
7	chr5:41795200-41805800	Weak transcription	Brain Angular Gyrus	brain
8	chr5:41795400-41809400	Weak transcription	Fetal Kidney	kidney
9	chr5:41795400-41809800	Weak transcription	Brain Anterior Caudate	brain
10	chr5:41795400-41813000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr5:41795400-41816200	Weak transcription	Colon Smooth Muscle	Colon
12	chr5:41795400-41835800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:41795600-41805600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:41795600-41806000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:41795600-41806600	Weak transcription	Lung	lung
16	chr5:41795600-41808000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:41795600-41808600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr5:41795600-41809000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:41795800-41809000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:41795800-41813000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr5:41796600-41808800	Weak transcription	Fetal Heart	heart
22	chr5:41796600-41825800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr5:41796600-41830400	Weak transcription	NH-A	brain
24	chr5:41796600-41830600	Weak transcription	NHDF-Ad	bronchial
25	chr5:41796600-41830800	Weak transcription	NHLF	lung
26	chr5:41796800-41812800	Weak transcription	Fetal Brain Female	brain
27	chr5:41797000-41815200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr5:41797200-41805600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:41797200-41815200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:41797600-41809000	Strong transcription	Dnd41	blood
31	chr5:41798000-41807800	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr5:41798600-41808800	Strong transcription	Hela-S3	cervix
33	chr5:41800800-41808400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:41800800-41810200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:41800800-41838600	Weak transcription	Fetal Stomach	stomach
36	chr5:41801000-41808200	Weak transcription	Gastric	stomach
37	chr5:41801000-41809600	Weak transcription	Right Ventricle	heart
38	chr5:41801000-41810200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:41801000-41810800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr5:41801000-41815800	Weak transcription	Esophagus	oesophagus
41	chr5:41801000-41818000	Weak transcription	Fetal Intestine Large	intestine
42	chr5:41801000-41835800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr5:41801000-41849200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr5:41801200-41805600	Weak transcription	Aorta	Aorta
45	chr5:41801200-41805600	Weak transcription	Left Ventricle	heart
46	chr5:41801200-41805800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr5:41801200-41806000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr5:41801200-41806200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr5:41801200-41806400	Weak transcription	Brain Hippocampus Middle	brain
50	chr5:41801200-41808200	Weak transcription	Ovary	ovary

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