Variant report

Variant	rs4279612
Chromosome Location	chr8:126297387-126297388
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126294613..126297401-chr8:126298251..126300790,2	K562	blood:
2	chr8:126287701..126290542-chr8:126297201..126298945,2	MCF-7	breast:
3	chr8:126295600..126298519-chr8:126310859..126313125,2	K562	blood:
4	chr8:126280606..126282810-chr8:126295937..126297699,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10086862	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095360	0.95[ASN][1000 genomes]
rs10101690	0.93[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10108305	0.83[CHB][hapmap];0.84[JPT][hapmap];0.95[ASN][1000 genomes]
rs10956234	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10956235	1.00[AFR][1000 genomes]
rs10956236	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4294203	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4350000	1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4464986	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4481616	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4565472	0.86[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.99[ASN][1000 genomes]
rs6415490	0.81[ASN][1000 genomes]
rs6470346	0.92[ASN][1000 genomes]
rs6985411	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6991820	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7008046	0.86[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.99[ASN][1000 genomes]
rs7011185	0.86[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7017794	0.93[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7812933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7813432	0.93[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7843098	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7844459	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7845165	0.94[CHB][hapmap];0.93[ASN][1000 genomes]
rs9297714	0.89[CHB][hapmap];0.89[JPT][hapmap];0.86[EUR][1000 genomes];0.99[ASN][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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv3419040	chr8:126271495-126339914	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv891436	chr8:126283766-126345076	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126264800-126310600	Weak transcription	Aorta	Aorta
2	chr8:126286200-126301600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr8:126286400-126298000	Weak transcription	Pancreas	Pancrea
4	chr8:126286400-126301000	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:126286400-126301200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:126286600-126301200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr8:126286600-126302200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:126288800-126300400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:126290800-126298000	Weak transcription	Gastric	stomach
10	chr8:126290800-126301200	Weak transcription	Right Atrium	heart
11	chr8:126291000-126321600	Weak transcription	Primary B cells from cord blood	blood
12	chr8:126291200-126321000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr8:126291400-126297600	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr8:126291400-126301400	Weak transcription	Primary T cells from cord blood	blood
15	chr8:126292600-126299600	Weak transcription	K562	blood
16	chr8:126293400-126301200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:126293600-126297400	Weak transcription	HSMMtube	muscle
18	chr8:126293600-126300800	Weak transcription	HSMM	muscle
19	chr8:126293600-126301000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr8:126293600-126301200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:126293800-126297400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:126293800-126301200	Weak transcription	Fetal Lung	lung
23	chr8:126294000-126300400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:126295400-126297800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr8:126295400-126298000	Weak transcription	Fetal Intestine Small	intestine
26	chr8:126295400-126303200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr8:126295600-126300600	Weak transcription	Dnd41	blood
28	chr8:126295600-126301400	Weak transcription	Colonic Mucosa	Colon
29	chr8:126295600-126302600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr8:126295800-126297600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr8:126295800-126297600	Weak transcription	Psoas Muscle	Psoas
32	chr8:126295800-126299400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr8:126295800-126301200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr8:126296000-126301200	Weak transcription	Small Intestine	intestine
35	chr8:126296200-126298400	Enhancers	HepG2	liver
36	chr8:126296400-126298000	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr8:126296400-126298400	Enhancers	Liver	Liver
38	chr8:126296600-126297400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:126296600-126297400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:126296600-126297400	Enhancers	Brain Cingulate Gyrus	brain
41	chr8:126296600-126297400	Enhancers	Fetal Brain Female	brain
42	chr8:126296600-126297400	Enhancers	Fetal Intestine Large	intestine
43	chr8:126296600-126297600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:126296600-126297600	Enhancers	Fetal Heart	heart
45	chr8:126296600-126298200	Enhancers	Stomach Mucosa	stomach
46	chr8:126296600-126298400	Enhancers	Thymus	Thymus
47	chr8:126296800-126297600	Flanking Active TSS	GM12878-XiMat	blood
48	chr8:126296800-126298000	Enhancers	A549	lung
49	chr8:126296800-126300400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr8:126296800-126301000	Weak transcription	Left Ventricle	heart

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