Variant report

Variant	rs10484454
Chromosome Location	chr6:11384316-11384317
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:11383728..11385611-chr6:11391826..11394332,2	K562	blood:
2	chr6:11229690..11234119-chr6:11380884..11384431,5	MCF-7	breast:
3	chr6:11384266..11387041-chr6:11387793..11390164,2	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]
rs10484453	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12524463	0.92[ASN][1000 genomes]
rs12525329	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12525704	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12525719	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12526759	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12527813	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16871291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16871294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16871306	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4607428	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6903648	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6935901	0.83[YRI][hapmap]
rs73366863	0.92[ASN][1000 genomes]
rs73722961	0.85[ASN][1000 genomes]
rs7742703	0.92[ASN][1000 genomes]
rs7752886	0.92[ASN][1000 genomes]
rs7760294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs926314	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]

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	chr6:11382400-11384400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:11382600-11384800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:11382600-11386800	Weak transcription	Colonic Mucosa	Colon
5	chr6:11382600-11389400	Weak transcription	Lung	lung
6	chr6:11382600-11392400	Weak transcription	Right Atrium	heart
7	chr6:11383000-11386800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr6:11383200-11384400	Enhancers	Primary B cells from cord blood	blood
9	chr6:11383200-11388600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:11383200-11390200	Weak transcription	Spleen	Spleen
11	chr6:11383400-11385000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr6:11383400-11385200	Weak transcription	Aorta	Aorta
13	chr6:11383400-11386600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr6:11383400-11388000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr6:11383400-11392600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr6:11383600-11386600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr6:11383600-11386800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr6:11383600-11387000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:11383600-11393000	Weak transcription	Small Intestine	intestine
20	chr6:11383800-11386000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr6:11383800-11386600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr6:11383800-11386600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr6:11383800-11386600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr6:11383800-11386800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:11383800-11392600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr6:11384000-11384400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr6:11384000-11388000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr6:11384200-11384800	Active TSS	GM12878-XiMat	blood
29	chr6:11384200-11386000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr6:11384200-11386800	Enhancers	Placenta Amnion	Placenta Amnion

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