Variant report

Variant	rs433118
Chromosome Location	chr5:80933482-80933483
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80931139..80933943-chr5:80935605..80937292,2	K562	blood:
2	chr5:80931196..80933943-chr5:80935625..80937292,2	K562	blood:

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

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

rs_ID	r²[population]
rs2917541	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2917545	0.82[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2921499	0.95[CHB][hapmap]
rs2972227	0.85[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2972237	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2972238	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2972239	0.85[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2972241	0.85[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2972245	1.00[YRI][hapmap]
rs2973335	0.85[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2973336	0.85[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2973345	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2973346	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2973347	0.86[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs2973350	1.00[YRI][hapmap]
rs369382	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs383082	0.80[AMR][1000 genomes]
rs388560	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3943733	0.95[CHB][hapmap]
rs401912	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs402390	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs406465	0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs411841	0.81[AMR][1000 genomes]
rs417684	0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4426897	1.00[YRI][hapmap]
rs447747	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs454578	0.81[CHB][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62366265	0.81[AMR][1000 genomes]
rs6452419	1.00[YRI][hapmap]
rs827059	0.82[AMR][1000 genomes]
rs827074	0.81[AMR][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	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv882234	chr5:80853708-80966666	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv525437	chr5:80876359-80964452	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv462222	chr5:80900719-80964452	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv598752	chr5:80900719-80964452	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv882235	chr5:80909132-81006061	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv882236	chr5:80930992-80999768	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80906000-80935000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr5:80906000-80946600	Weak transcription	Brain Anterior Caudate	brain
3	chr5:80906000-80947000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:80906200-80938800	Weak transcription	Left Ventricle	heart
5	chr5:80906200-80942400	Weak transcription	Esophagus	oesophagus
6	chr5:80906200-80947800	Weak transcription	Brain Germinal Matrix	brain
7	chr5:80906600-80936200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:80910400-80953000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr5:80910800-80949200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr5:80918200-80934800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr5:80918400-80938800	Weak transcription	Fetal Stomach	stomach
12	chr5:80918400-80939800	Weak transcription	Fetal Lung	lung
13	chr5:80918800-80935200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:80920600-80946800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr5:80921200-80983000	Weak transcription	Aorta	Aorta
16	chr5:80922600-80933600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr5:80922600-80935800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:80922600-80937600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr5:80922800-80934600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:80922800-80935000	Weak transcription	Colon Smooth Muscle	Colon
21	chr5:80923000-80952800	Weak transcription	Fetal Intestine Large	intestine
22	chr5:80923200-80934200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:80923200-80934400	Weak transcription	NHDF-Ad	bronchial
24	chr5:80923200-80942000	Weak transcription	Fetal Intestine Small	intestine
25	chr5:80923200-80947000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr5:80923200-80948400	Weak transcription	K562	blood
27	chr5:80923400-80934600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:80923400-80934600	Weak transcription	NHLF	lung
29	chr5:80923400-80934600	Weak transcription	Osteobl	bone
30	chr5:80923400-80938400	Weak transcription	HUVEC	blood vessel
31	chr5:80923800-80936000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:80924200-80962800	Weak transcription	Ovary	ovary
33	chr5:80924600-80934600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr5:80924800-80972000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr5:80926200-80943200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:80926200-80943400	Weak transcription	Fetal Kidney	kidney
37	chr5:80926200-80947000	Weak transcription	Fetal Brain Male	brain
38	chr5:80926800-80934600	Weak transcription	HSMMtube	muscle
39	chr5:80927400-80934400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr5:80927800-80934800	Weak transcription	HSMM	muscle
41	chr5:80928600-80943600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr5:80928800-80935000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr5:80929000-80934800	Genic enhancers	Dnd41	blood
44	chr5:80929200-80933600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:80929600-80934600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr5:80929600-80940200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr5:80930000-80934800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr5:80930000-80940000	Weak transcription	GM12878-XiMat	blood
49	chr5:80930400-80947400	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr5:80930600-80935200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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