Variant report

Variant	rs10008457
Chromosome Location	chr4:110436357-110436358
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:110434896..110437050-chr4:110440887..110442437,2	K562	blood:
2	chr4:110435524..110438522-chr4:110443269..110445686,2	K562	blood:
3	chr4:110435524..110439030-chr4:110443269..110448028,4	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10003981	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10005225	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10009463	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10011971	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10020652	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10030694	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17040433	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17040466	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17040498	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28412073	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28460762	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28541279	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28595287	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28597954	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28663368	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28680423	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28723468	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28829974	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57705376	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6533431	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6533432	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6812917	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6834714	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6837083	1.00[EUR][1000 genomes]
rs6838597	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6840561	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6852062	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6854516	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898791	1.00[EUR][1000 genomes]
rs7665738	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7667502	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7674196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7677736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7681265	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7685647	1.00[EUR][1000 genomes]
rs7697001	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9997563	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[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	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv525385	chr4:110395146-110466413	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	5 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	chr4:110393800-110469200	Weak transcription	Stomach Mucosa	stomach
2	chr4:110400200-110455400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:110409400-110467800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr4:110411400-110464600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr4:110412400-110443000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:110412400-110444600	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr4:110412400-110465400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:110412400-110466200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:110412400-110470600	Strong transcription	Fetal Thymus	thymus
10	chr4:110413400-110454800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:110416200-110454800	Weak transcription	Fetal Heart	heart
12	chr4:110416400-110452200	Weak transcription	Fetal Brain Male	brain
13	chr4:110416800-110449200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:110417000-110436600	Weak transcription	Aorta	Aorta
15	chr4:110417000-110440000	Weak transcription	Pancreas	Pancrea
16	chr4:110417000-110441800	Weak transcription	Right Ventricle	heart
17	chr4:110417000-110447400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr4:110417000-110448400	Weak transcription	Spleen	Spleen
19	chr4:110417000-110449200	Weak transcription	Hela-S3	cervix
20	chr4:110417000-110453400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:110417000-110453600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:110417000-110455800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr4:110417200-110441800	Weak transcription	Esophagus	oesophagus
24	chr4:110417200-110448400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr4:110417800-110447400	Weak transcription	NHLF	lung
26	chr4:110418400-110448600	Weak transcription	Psoas Muscle	Psoas
27	chr4:110418600-110438000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr4:110418600-110438400	Weak transcription	Small Intestine	intestine
29	chr4:110419000-110447400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr4:110419200-110437400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:110419200-110438200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr4:110419400-110438400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr4:110420200-110466400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:110420400-110443600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:110420800-110441400	Weak transcription	Colonic Mucosa	Colon
36	chr4:110422400-110448600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:110422800-110448400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:110422800-110448600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr4:110423000-110437200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr4:110423200-110438000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr4:110423400-110454400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:110423400-110480800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr4:110424600-110444400	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr4:110424600-110457000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:110424800-110456000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:110424800-110456600	Strong transcription	Osteobl	bone
47	chr4:110424800-110468400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:110425000-110463800	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr4:110425200-110468000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:110425400-110464800	Strong transcription	Duodenum Mucosa	Duodenum

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