Variant report

Variant	rs654698
Chromosome Location	chr6:151016738-151016739
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	chr6:151009911..151013562-chr6:151014768..151017734,5	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12661140	0.85[CEU][hapmap]
rs12663498	1.00[JPT][hapmap];0.94[MEX][hapmap]
rs1494308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1552886	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1552889	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17080057	0.85[CEU][hapmap]
rs17080062	0.85[CEU][hapmap]
rs17080069	0.85[CEU][hapmap];0.94[MEX][hapmap]
rs17080087	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17080089	0.85[CEU][hapmap]
rs17080091	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17080093	0.85[CEU][hapmap];0.94[MEX][hapmap]
rs17080102	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs62434120	0.89[ASN][1000 genomes]
rs62434125	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62434129	0.89[ASN][1000 genomes]
rs6557082	1.00[JPT][hapmap]
rs6557083	1.00[JPT][hapmap]
rs6929935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7776166	0.87[MEX][hapmap]
rs9322273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9322274	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9322275	0.81[AMR][1000 genomes]
rs9322277	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9322278	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9397343	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886772	chr6:150743364-151024280	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1030326	chr6:150967665-151641372	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:151005000-151017400	Weak transcription	Aorta	Aorta
2	chr6:151005800-151018400	Weak transcription	Psoas Muscle	Psoas
3	chr6:151006000-151018400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr6:151006800-151017200	Weak transcription	Fetal Stomach	stomach
5	chr6:151009000-151018400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:151009000-151021200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr6:151009400-151016800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr6:151009400-151017200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr6:151009400-151017200	Weak transcription	Fetal Lung	lung
10	chr6:151009800-151018600	Weak transcription	Ovary	ovary
11	chr6:151012200-151018400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:151012200-151023800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:151012400-151018400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:151013000-151020600	Enhancers	Primary B cells from cord blood	blood
15	chr6:151013200-151018600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr6:151014600-151021000	Enhancers	Primary B cells from peripheral blood	blood
17	chr6:151015000-151017200	Weak transcription	Fetal Muscle Leg	muscle
18	chr6:151015000-151017400	Weak transcription	Brain Anterior Caudate	brain
19	chr6:151015000-151018400	Weak transcription	Placenta	Placenta
20	chr6:151015000-151020600	Weak transcription	Left Ventricle	heart
21	chr6:151015200-151017000	Weak transcription	Adipose Nuclei	Adipose
22	chr6:151015200-151017000	Weak transcription	Fetal Heart	heart
23	chr6:151015200-151017400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:151015200-151017400	Weak transcription	Lung	lung
25	chr6:151015200-151017600	Weak transcription	Spleen	Spleen
26	chr6:151015200-151033200	Weak transcription	Right Atrium	heart
27	chr6:151015400-151016800	Weak transcription	Brain Substantia Nigra	brain
28	chr6:151015400-151017400	Weak transcription	Thymus	Thymus
29	chr6:151015400-151018800	Weak transcription	GM12878-XiMat	blood
30	chr6:151015400-151025600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr6:151016000-151016800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:151016000-151017800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:151016000-151017800	Enhancers	Fetal Kidney	kidney
34	chr6:151016000-151017800	Enhancers	Rectal Smooth Muscle	rectum
35	chr6:151016200-151016800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:151016200-151017000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:151016200-151017000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr6:151016200-151017400	Enhancers	Brain Hippocampus Middle	brain
39	chr6:151016400-151017600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:151016600-151016800	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr6:151016600-151016800	Strong transcription	Fetal Thymus	thymus
42	chr6:151016600-151017600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr6:151016600-151017800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr6:151016600-151017800	Enhancers	Colon Smooth Muscle	Colon
45	chr6:151016600-151017800	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr6:151016600-151017800	Enhancers	Small Intestine	intestine

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