Variant report

Variant	rs6651233
Chromosome Location	chr8:126290602-126290603
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:126290241..126294292-chr8:126442351..126445541,5	MCF-7	breast:
2	chr8:126290287..126294135-chr8:126298870..126301775,4	K562	blood:
3	chr8:126290403..126294435-chr8:126303618..126306610,4	K562	blood:
4	chr8:126287704..126290628-chr8:126303543..126305382,2	MCF-7	breast:
5	chr8:126289014..126291245-chr8:126440114..126442015,2	MCF-7	breast:
6	chr8:126290473..126292876-chr8:126294905..126297324,3	K562	blood:
7	chr8:126288880..126291551-chr8:126340107..126343091,2	K562	blood:
8	chr8:126283879..126287098-chr8:126289140..126291457,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12542512	0.88[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16900516	0.94[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7003102	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7007866	0.94[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7816350	0.82[CEU][hapmap]

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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126264800-126310600	Weak transcription	Aorta	Aorta
2	chr8:126265600-126296600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:126283400-126292600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr8:126285600-126292400	Weak transcription	Fetal Brain Male	brain
5	chr8:126286200-126292200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr8:126286200-126294800	Weak transcription	Colonic Mucosa	Colon
7	chr8:126286200-126301600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr8:126286400-126290800	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:126286400-126291200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr8:126286400-126291200	Weak transcription	NHDF-Ad	bronchial
11	chr8:126286400-126292000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:126286400-126292000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:126286400-126292000	Weak transcription	Fetal Kidney	kidney
14	chr8:126286400-126292000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr8:126286400-126292000	Weak transcription	HSMM	muscle
16	chr8:126286400-126292200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr8:126286400-126296000	Weak transcription	Left Ventricle	heart
18	chr8:126286400-126296600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr8:126286400-126298000	Weak transcription	Pancreas	Pancrea
20	chr8:126286400-126301000	Weak transcription	Fetal Muscle Leg	muscle
21	chr8:126286400-126301200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr8:126286600-126291000	Weak transcription	Osteobl	bone
23	chr8:126286600-126291800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr8:126286600-126292000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:126286600-126292600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr8:126286600-126301200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr8:126286600-126302200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:126286800-126291200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:126286800-126292000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:126287000-126294000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:126287000-126294800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr8:126287800-126297000	Enhancers	Fetal Thymus	thymus
33	chr8:126288800-126300400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:126289000-126291200	Enhancers	HepG2	liver
35	chr8:126289400-126290800	Enhancers	Placenta	Placenta
36	chr8:126289600-126292600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:126289800-126294000	Enhancers	Primary hematopoietic stem cells	blood
38	chr8:126290000-126291200	Enhancers	Primary B cells from peripheral blood	blood
39	chr8:126290000-126293800	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr8:126290000-126293800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:126290000-126294000	Enhancers	Fetal Intestine Small	intestine
42	chr8:126290200-126290800	Enhancers	Right Atrium	heart
43	chr8:126290200-126291000	Enhancers	Primary B cells from cord blood	blood
44	chr8:126290200-126292400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:126290200-126292800	Enhancers	NHEK	skin
46	chr8:126290200-126293200	Enhancers	Liver	Liver
47	chr8:126290200-126293400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:126290400-126290800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:126290400-126290800	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr8:126290400-126290800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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