Variant report

Variant	rs10758734
Chromosome Location	chr9:6000551-6000552
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	chr9:5995960..5997712-chr9:5997780..6000684,2	MCF-7	breast:
2	chr9:5997327..6003105-chr9:6004603..6008619,8	K562	blood:

Variant related genes	Relation type
ENSG00000263575	Chromatin interaction
ENSG00000183354	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10117416	0.94[EUR][1000 genomes]
rs10121480	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10733517	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs10733520	1.00[CEU][hapmap];0.87[JPT][hapmap];0.89[EUR][1000 genomes]
rs10733522	0.94[EUR][1000 genomes]
rs10733523	0.94[EUR][1000 genomes]
rs10739079	1.00[CEU][hapmap];0.87[JPT][hapmap];0.94[EUR][1000 genomes]
rs10739082	0.94[EUR][1000 genomes]
rs10758731	1.00[CEU][hapmap];0.86[JPT][hapmap];0.94[EUR][1000 genomes]
rs10758732	0.94[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs10815330	1.00[CEU][hapmap];0.86[JPT][hapmap];0.94[EUR][1000 genomes]
rs10815335	0.88[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12337790	0.80[GIH][hapmap]
rs1260130	1.00[TSI][hapmap]
rs1331378	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1331379	1.00[CEU][hapmap];0.86[JPT][hapmap];0.89[EUR][1000 genomes]
rs1418740	1.00[CEU][hapmap]
rs1478935	0.94[EUR][1000 genomes]
rs1478936	0.94[EUR][1000 genomes]
rs1478938	0.81[JPT][hapmap]
rs16923578	1.00[CEU][hapmap]
rs1776008	1.00[TSI][hapmap]
rs186913	1.00[CEU][hapmap];0.86[JPT][hapmap];0.89[EUR][1000 genomes]
rs1888703	0.86[JPT][hapmap]
rs1888704	0.94[EUR][1000 genomes]
rs2150703	1.00[CEU][hapmap];0.81[JPT][hapmap];1.00[TSI][hapmap]
rs2169906	0.94[EUR][1000 genomes]
rs2233173	0.84[GIH][hapmap]
rs2244053	1.00[CEU][hapmap];0.81[JPT][hapmap]
rs2244058	1.00[CEU][hapmap];0.81[JPT][hapmap]
rs2291055	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs2381360	1.00[CEU][hapmap];0.93[JPT][hapmap];0.94[EUR][1000 genomes]
rs2797512	1.00[TSI][hapmap]
rs2890690	0.94[EUR][1000 genomes]
rs343469	1.00[CEU][hapmap]
rs343471	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs343480	1.00[CEU][hapmap]
rs343482	1.00[CEU][hapmap]
rs343500	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs3739649	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs4075225	1.00[CEU][hapmap]
rs4265236	1.00[CEU][hapmap]
rs4389996	1.00[CEU][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs4395943	1.00[CEU][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap]
rs4421399	0.85[AFR][1000 genomes]
rs4740833	1.00[CEU][hapmap];0.86[JPT][hapmap];0.89[EUR][1000 genomes]
rs4740834	0.94[EUR][1000 genomes]
rs4742131	1.00[CEU][hapmap];0.81[JPT][hapmap];1.00[TSI][hapmap]
rs4742142	0.94[EUR][1000 genomes]
rs6477017	1.00[CEU][hapmap];0.80[JPT][hapmap]
rs6477021	0.94[EUR][1000 genomes]
rs6477022	0.94[EUR][1000 genomes]
rs6477023	0.94[EUR][1000 genomes]
rs6477024	1.00[CEU][hapmap];0.93[JPT][hapmap];0.94[EUR][1000 genomes]
rs6477025	0.94[EUR][1000 genomes]
rs6477026	0.94[EUR][1000 genomes]
rs7019606	1.00[CEU][hapmap]
rs7021498	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7024130	1.00[CEU][hapmap];0.81[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs7026453	0.94[EUR][1000 genomes]
rs7026454	0.81[JPT][hapmap];0.94[EUR][1000 genomes]
rs7029833	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7030731	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7032130	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7034210	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs7037680	1.00[TSI][hapmap]
rs7042947	1.00[CEU][hapmap]
rs7044750	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7851749	0.94[EUR][1000 genomes]
rs7866793	1.00[CEU][hapmap]
rs7868062	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs7869571	0.94[EUR][1000 genomes]
rs7875450	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948847	chr9:5712626-6417677	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1031086	chr9:5806949-6630686	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv539967	chr9:5806949-6630686	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv892155	chr9:5825768-6044937	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv892156	chr9:5892375-6011757	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1015450	chr9:5915640-6114652	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:5940000-6006800	Weak transcription	Gastric	stomach
2	chr9:5948000-6006000	Weak transcription	Right Ventricle	heart
3	chr9:5950600-6006000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr9:5957400-6004400	Weak transcription	Brain Germinal Matrix	brain
5	chr9:5967200-6006000	Weak transcription	Colonic Mucosa	Colon
6	chr9:5968400-6005600	Weak transcription	Fetal Kidney	kidney
7	chr9:5972200-6005800	Weak transcription	NH-A	brain
8	chr9:5974000-6006800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr9:5974800-6001000	Weak transcription	Fetal Brain Female	brain
10	chr9:5975200-6005800	Weak transcription	Fetal Stomach	stomach
11	chr9:5977400-6000800	Weak transcription	Small Intestine	intestine
12	chr9:5977400-6004800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr9:5977400-6005600	Weak transcription	NHLF	lung
14	chr9:5977400-6005800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr9:5977400-6006800	Weak transcription	Pancreas	Pancrea
16	chr9:5977400-6007000	Weak transcription	Spleen	Spleen
17	chr9:5982800-6005200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr9:5983200-6004200	Weak transcription	Osteobl	bone
19	chr9:5983400-6004200	Weak transcription	NHDF-Ad	bronchial
20	chr9:5984000-6001000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr9:5987200-6000800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr9:5987200-6005200	Weak transcription	Fetal Muscle Leg	muscle
23	chr9:5987200-6006200	Weak transcription	Thymus	Thymus
24	chr9:5987400-6001200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr9:5987800-6004000	Weak transcription	Dnd41	blood
26	chr9:5987800-6004200	Weak transcription	Hela-S3	cervix
27	chr9:5988000-6003800	Weak transcription	Fetal Intestine Large	intestine
28	chr9:5988000-6004200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr9:5988000-6005600	Weak transcription	Adipose Nuclei	Adipose
30	chr9:5988000-6005600	Weak transcription	Fetal Lung	lung
31	chr9:5988000-6006200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr9:5988200-6003800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr9:5988200-6005600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr9:5988200-6005800	Weak transcription	HSMM	muscle
35	chr9:5988200-6006000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr9:5988600-6004000	Weak transcription	Fetal Thymus	thymus
37	chr9:5988600-6004200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr9:5988600-6004600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr9:5988600-6004800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr9:5988600-6005800	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr9:5988800-6000800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr9:5988800-6003400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr9:5988800-6004000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr9:5988800-6004200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr9:5988800-6005600	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr9:5989000-6006600	Weak transcription	Placenta	Placenta
47	chr9:5990200-6005400	Weak transcription	Fetal Intestine Small	intestine
48	chr9:5991800-6006800	Weak transcription	Esophagus	oesophagus
49	chr9:5992200-6001800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr9:5993000-6001800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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