Variant report

Variant	rs9296000
Chromosome Location	chr6:11383976-11383977
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:11383728..11385611-chr6:11391826..11394332,2	K562	blood:
2	chr6:11229690..11234119-chr6:11380884..11384431,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111859	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1012502	0.82[CHB][hapmap]
rs1013678	0.82[CHB][hapmap]
rs12199545	0.86[CHB][hapmap]
rs12204242	0.86[CHB][hapmap];0.85[GIH][hapmap]
rs12208626	0.86[CHB][hapmap]
rs12215372	0.90[CHB][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs12215715	0.86[CHB][hapmap]
rs13217274	0.90[CHB][hapmap]
rs2179178	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3798752	1.00[CEU][hapmap];0.86[CHB][hapmap];0.98[GIH][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4403261	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4711271	0.82[CHB][hapmap];0.81[GIH][hapmap];0.81[TSI][hapmap]
rs4711272	0.82[CHB][hapmap]
rs5019594	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6918440	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6932496	0.90[CHB][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap]
rs6934773	0.96[CEU][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9348868	0.82[CHB][hapmap];0.83[GIH][hapmap]
rs9461714	0.94[CHB][hapmap];0.90[JPT][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	nsv1021078	chr6:10819083-11558560	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv538135	chr6:10819083-11558560	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv432848	chr6:11371614-11560114	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11377800-11386600	Weak transcription	HepG2	liver
2	chr6:11382400-11384200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:11382400-11384400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:11382600-11384200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:11382600-11384800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:11382600-11386800	Weak transcription	Colonic Mucosa	Colon
7	chr6:11382600-11389400	Weak transcription	Lung	lung
8	chr6:11382600-11392400	Weak transcription	Right Atrium	heart
9	chr6:11382800-11384000	Enhancers	Primary B cells from peripheral blood	blood
10	chr6:11383000-11386800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr6:11383200-11384400	Enhancers	Primary B cells from cord blood	blood
12	chr6:11383200-11388600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr6:11383200-11390200	Weak transcription	Spleen	Spleen
14	chr6:11383400-11384000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr6:11383400-11385000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr6:11383400-11385200	Weak transcription	Aorta	Aorta
17	chr6:11383400-11386600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr6:11383400-11388000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr6:11383400-11392600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr6:11383600-11386600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr6:11383600-11386800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr6:11383600-11387000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr6:11383600-11393000	Weak transcription	Small Intestine	intestine
24	chr6:11383800-11384200	Weak transcription	GM12878-XiMat	blood
25	chr6:11383800-11386000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr6:11383800-11386600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr6:11383800-11386600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr6:11383800-11386600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr6:11383800-11386800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr6:11383800-11392600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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