Variant report

Variant	rs236674
Chromosome Location	chr4:88010741-88010742
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	chr4:88004411..88007536-chr4:88008930..88011901,3	K562	blood:
2	chr4:88005383..88008853-chr4:88008930..88010972,3	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10018897	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10516789	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168204	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1841265	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs19026	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs236675	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs236678	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs236685	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs236686	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs236687	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2869642	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2926512	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3116679	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs342436	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs342457	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs342458	0.94[ASN][1000 genomes]
rs342459	0.94[ASN][1000 genomes]
rs342460	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs342461	0.94[ASN][1000 genomes]
rs342462	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs342465	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3775225	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3822042	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs384059	0.90[ASN][1000 genomes]
rs390604	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs393991	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs411365	0.91[ASN][1000 genomes]
rs447990	0.96[ASN][1000 genomes]
rs60757751	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6827213	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9992235	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv999098	chr4:87899091-88016048	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv537167	chr4:87899091-88016048	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv879525	chr4:87964363-88033352	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87995200-88029200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:87995400-88037800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:87995600-88011200	Weak transcription	Colonic Mucosa	Colon
4	chr4:87995800-88023800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr4:87996800-88023600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr4:87999600-88011000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:88000400-88020800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:88000600-88013000	Weak transcription	A549	lung
9	chr4:88001200-88011400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr4:88001400-88013800	Weak transcription	HSMM	muscle
11	chr4:88001400-88025200	Weak transcription	Fetal Muscle Leg	muscle
12	chr4:88001600-88014000	Weak transcription	Small Intestine	intestine
13	chr4:88001800-88011800	Weak transcription	Fetal Stomach	stomach
14	chr4:88001800-88013200	Weak transcription	Stomach Mucosa	stomach
15	chr4:88001800-88013400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:88001800-88013800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:88001800-88025200	Weak transcription	Gastric	stomach
18	chr4:88003400-88028600	Weak transcription	HSMMtube	muscle
19	chr4:88003600-88013000	Weak transcription	HMEC	breast
20	chr4:88003600-88013200	Weak transcription	Osteobl	bone
21	chr4:88004200-88010800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:88004200-88019200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr4:88004400-88025200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr4:88005000-88017400	Strong transcription	Dnd41	blood
25	chr4:88005800-88014000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:88006200-88011200	Weak transcription	Fetal Lung	lung
27	chr4:88006400-88010800	Weak transcription	K562	blood
28	chr4:88007600-88014400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr4:88007600-88018200	Weak transcription	Thymus	Thymus
30	chr4:88007800-88010800	Enhancers	Right Ventricle	heart
31	chr4:88008200-88010800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:88008200-88010800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr4:88008400-88010800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr4:88008400-88011000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:88008400-88013200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:88008600-88010800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr4:88008600-88014000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr4:88008600-88014000	Weak transcription	Aorta	Aorta
39	chr4:88008800-88010800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr4:88008800-88011000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr4:88008800-88011200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr4:88008800-88013200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr4:88008800-88014000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:88008800-88014000	Weak transcription	NHLF	lung
45	chr4:88008800-88014200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr4:88008800-88015000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr4:88009000-88010800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:88009000-88011400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr4:88009000-88013400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr4:88009000-88013600	Weak transcription	Fetal Heart	heart

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