Variant report

Variant	rs17507230
Chromosome Location	chr6:11385983-11385984
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:11385040..11387245-chr6:11401910..11404147,2	K562	blood:
2	chr6:11229965..11235177-chr6:11385041..11393111,14	MCF-7	breast:
3	chr6:11342539..11346028-chr6:11385686..11392115,8	MCF-7	breast:
4	chr6:11384266..11387041-chr6:11387793..11390164,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111859	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1012503	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10947217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11751505	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11756278	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12661807	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4074864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4318876	0.86[ASN][1000 genomes]
rs4713459	0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4713474	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4713475	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4713478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55918622	0.86[ASN][1000 genomes]
rs56144403	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56155385	0.86[ASN][1000 genomes]
rs56317766	0.86[ASN][1000 genomes]
rs56711429	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59349836	0.86[ASN][1000 genomes]
rs61650802	0.86[ASN][1000 genomes]
rs6901538	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72832925	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72832932	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72832935	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72832944	0.86[ASN][1000 genomes]
rs73366900	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7740502	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7741863	0.87[YRI][hapmap]
rs7754647	0.83[YRI][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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11377800-11386600	Weak transcription	HepG2	liver
2	chr6:11382600-11386800	Weak transcription	Colonic Mucosa	Colon
3	chr6:11382600-11389400	Weak transcription	Lung	lung
4	chr6:11382600-11392400	Weak transcription	Right Atrium	heart
5	chr6:11383000-11386800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:11383200-11388600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr6:11383200-11390200	Weak transcription	Spleen	Spleen
8	chr6:11383400-11386600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr6:11383400-11388000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:11383400-11392600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr6:11383600-11386600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr6:11383600-11386800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr6:11383600-11387000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:11383600-11393000	Weak transcription	Small Intestine	intestine
15	chr6:11383800-11386000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr6:11383800-11386600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:11383800-11386600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr6:11383800-11386600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr6:11383800-11386800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr6:11383800-11392600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr6:11384000-11388000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr6:11384200-11386000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr6:11384200-11386800	Enhancers	Placenta Amnion	Placenta Amnion
24	chr6:11384400-11386000	Enhancers	HSMMtube	muscle
25	chr6:11384600-11386000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr6:11385000-11386200	Enhancers	GM12878-XiMat	blood
27	chr6:11385200-11389200	Enhancers	Primary B cells from cord blood	blood
28	chr6:11385200-11389800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:11385600-11390400	Enhancers	Primary B cells from peripheral blood	blood
30	chr6:11385800-11386800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:11385800-11388800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:11385800-11393400	Weak transcription	Aorta	Aorta

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