Variant report

Variant	rs932494
Chromosome Location	chr6:24908645-24908646
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	chr6:24905708..24907568-chr6:24908173..24910431,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2064524	0.89[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2207399	0.89[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2493331	0.88[ASN][1000 genomes]
rs2747674	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2747675	0.95[CHB][hapmap];0.83[JPT][hapmap];0.92[ASN][1000 genomes]
rs2747676	0.95[CHB][hapmap];0.92[CHD][hapmap];0.80[GIH][hapmap];0.83[JPT][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2747677	0.92[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2817718	0.86[MEX][hapmap]
rs2817725	0.84[JPT][hapmap];0.86[MEX][hapmap];0.83[AMR][1000 genomes]
rs2817727	0.82[ASN][1000 genomes]
rs2817731	0.95[CHB][hapmap];0.92[CHD][hapmap];0.82[GIH][hapmap];0.83[JPT][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2817733	0.90[ASN][1000 genomes]
rs734014	0.86[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022966	chr6:24763776-25154212	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv538160	chr6:24763776-25154212	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1019504	chr6:24869174-24994758	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24897400-24909600	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr6:24899800-24909600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr6:24900000-24909000	Genic enhancers	Primary T cells fromperipheralblood	blood
4	chr6:24900200-24909800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:24901000-24908800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr6:24901800-24908800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
7	chr6:24902200-24909400	Weak transcription	Left Ventricle	heart
8	chr6:24903600-24908800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:24904400-24909000	Weak transcription	HSMM	muscle
10	chr6:24905000-24908800	Weak transcription	Spleen	Spleen
11	chr6:24905000-24910800	Weak transcription	Aorta	Aorta
12	chr6:24905600-24908800	Genic enhancers	Primary T cells from cord blood	blood
13	chr6:24905600-24908800	Enhancers	Hela-S3	cervix
14	chr6:24905800-24909400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:24907000-24909400	Weak transcription	Ovary	ovary
16	chr6:24907000-24909400	Weak transcription	Psoas Muscle	Psoas
17	chr6:24907000-24909400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr6:24907600-24908800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr6:24907600-24908800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:24907600-24909400	Active TSS	Fetal Brain Female	brain
21	chr6:24907600-24909600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:24907600-24909600	Flanking Active TSS	Brain Germinal Matrix	brain
23	chr6:24907600-24910000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:24907600-24910000	Enhancers	Fetal Thymus	thymus
25	chr6:24907800-24908800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr6:24907800-24909200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:24907800-24909200	Enhancers	Fetal Brain Male	brain
28	chr6:24907800-24909600	Enhancers	Small Intestine	intestine
29	chr6:24907800-24909800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:24907800-24910000	Enhancers	Fetal Stomach	stomach
31	chr6:24907800-24910400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:24907800-24911200	Flanking Active TSS	GM12878-XiMat	blood
33	chr6:24908000-24909000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:24908000-24909400	Enhancers	Brain Hippocampus Middle	brain
35	chr6:24908000-24909600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr6:24908000-24910000	Enhancers	Thymus	Thymus
37	chr6:24908000-24910400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:24908000-24910800	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr6:24908000-24911200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr6:24908000-24912200	Active TSS	HSMMtube	muscle
41	chr6:24908200-24908800	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr6:24908200-24908800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:24908200-24909200	Enhancers	Adipose Nuclei	Adipose
44	chr6:24908200-24909200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr6:24908200-24909200	Enhancers	Fetal Muscle Leg	muscle
46	chr6:24908200-24909400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:24908200-24909600	Enhancers	Fetal Heart	heart
48	chr6:24908200-24909600	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr6:24908200-24909600	Enhancers	Dnd41	blood
50	chr6:24908200-24909800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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