Variant report

Variant	rs11079743
Chromosome Location	chr17:45020497-45020498
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45019717..45021818-chr17:45023982..45025804,3	MCF-7	breast:
2	chr17:44998043..45003369-chr17:45017156..45021990,5	K562	blood:
3	chr17:45019970..45020552-chr17:45078269..45079135,2	K562	blood:
4	chr17:44998974..45001797-chr17:45018789..45021096,2	MCF-7	breast:
5	chr17:45016499..45018728-chr17:45019310..45022660,4	MCF-7	breast:
6	chr17:45017959..45019957-chr17:45020327..45022485,3	MCF-7	breast:
7	chr17:45012485..45015946-chr17:45019654..45022086,5	K562	blood:

Variant related genes	Relation type
ENSG00000261886	Chromatin interaction
ENSG00000108433	Chromatin interaction
ENSG00000210709	Chromatin interaction
ENSG00000262633	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1625900	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1634270	1.00[EUR][1000 genomes]
rs1638447	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1638449	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1662595	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1662598	0.81[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16941147	1.00[EUR][1000 genomes]
rs183199	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs197921	0.82[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs197933	1.00[EUR][1000 genomes]
rs197934	1.00[EUR][1000 genomes]
rs197940	1.00[EUR][1000 genomes]
rs2018281	1.00[EUR][1000 genomes]
rs2108922	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs221600	1.00[EUR][1000 genomes]
rs28377288	1.00[EUR][1000 genomes]
rs28740955	1.00[EUR][1000 genomes]
rs3851783	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4083002	1.00[EUR][1000 genomes]
rs4968289	1.00[EUR][1000 genomes]
rs60458827	1.00[EUR][1000 genomes]
rs7212013	1.00[EUR][1000 genomes]
rs7221149	1.00[EUR][1000 genomes]
rs73316337	1.00[EUR][1000 genomes]
rs73987013	1.00[EUR][1000 genomes]
rs73987030	1.00[EUR][1000 genomes]
rs8064340	1.00[EUR][1000 genomes]
rs8064568	0.82[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8071980	1.00[EUR][1000 genomes]
rs8078556	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs858674	1.00[EUR][1000 genomes]
rs9893406	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9893495	1.00[EUR][1000 genomes]
rs9900809	1.00[EUR][1000 genomes]
rs9910543	1.00[EUR][1000 genomes]
rs9915693	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3492820	chr17:44174959-45161556	Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3492821	chr17:44174959-45161556	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	esv3502492	chr17:44305975-45169159	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv3502493	chr17:44305975-45169159	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv531823	chr17:44485771-45067769	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv908562	chr17:44828931-45102413	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv949295	chr17:44836653-45080757	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
8	nsv428672	chr17:44872446-45023425	Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1067211	chr17:44979111-45057620	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
10	nsv543378	chr17:44979111-45057620	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
11	nsv833466	chr17:45020360-45204537	Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45001600-45020800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr17:45002000-45021000	Weak transcription	Fetal Heart	heart
3	chr17:45012800-45040000	Weak transcription	Hela-S3	cervix
4	chr17:45014000-45020600	Weak transcription	Right Atrium	heart
5	chr17:45014200-45020800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr17:45016800-45021000	Weak transcription	Fetal Kidney	kidney
7	chr17:45017200-45020800	Weak transcription	Psoas Muscle	Psoas
8	chr17:45017400-45021200	Weak transcription	Small Intestine	intestine
9	chr17:45017600-45020800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr17:45018000-45020600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr17:45018000-45020600	Weak transcription	Ovary	ovary
12	chr17:45018000-45020800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr17:45018000-45026000	Weak transcription	Primary B cells from cord blood	blood
14	chr17:45018200-45020600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr17:45018200-45020600	Weak transcription	Colonic Mucosa	Colon
16	chr17:45018200-45020600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr17:45018200-45020600	Weak transcription	Pancreas	Pancrea
18	chr17:45018200-45020800	Weak transcription	Fetal Lung	lung
19	chr17:45018200-45020800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr17:45018200-45021000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr17:45018200-45021000	Weak transcription	Stomach Mucosa	stomach
22	chr17:45018200-45022600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr17:45018200-45028400	Weak transcription	Fetal Brain Female	brain
24	chr17:45018400-45020600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr17:45018400-45020600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr17:45018400-45020600	Weak transcription	Liver	Liver
27	chr17:45018400-45020800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr17:45018400-45020800	Weak transcription	Esophagus	oesophagus
29	chr17:45018400-45020800	Weak transcription	Fetal Stomach	stomach
30	chr17:45018400-45020800	Weak transcription	Gastric	stomach
31	chr17:45018400-45021000	Weak transcription	Primary T cells from cord blood	blood
32	chr17:45018400-45021000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr17:45018400-45021200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr17:45018400-45021400	Weak transcription	NHEK	skin
35	chr17:45018400-45026200	Weak transcription	Aorta	Aorta
36	chr17:45018600-45020600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr17:45018600-45020800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr17:45018600-45020800	Weak transcription	Colon Smooth Muscle	Colon
39	chr17:45018600-45028600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr17:45018800-45020600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr17:45018800-45020600	Weak transcription	HUVEC	blood vessel
42	chr17:45018800-45020800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr17:45018800-45020800	Weak transcription	HSMMtube	muscle
44	chr17:45018800-45022400	Weak transcription	HMEC	breast
45	chr17:45019000-45020600	Weak transcription	Brain Germinal Matrix	brain
46	chr17:45019000-45021000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr17:45019600-45020600	Enhancers	HepG2	liver
48	chr17:45019600-45020800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr17:45019600-45021000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr17:45019600-45022400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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