Variant report

Variant	rs265078
Chromosome Location	chr9:71145991-71145992
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	chr9:71140302..71143240-chr9:71143609..71146206,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs10120859	0.81[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs10780986	1.00[CEU][hapmap];0.95[GIH][hapmap];0.90[TSI][hapmap];0.89[EUR][1000 genomes]
rs10868961	0.89[EUR][1000 genomes]
rs10869020	0.81[CHB][hapmap];0.85[LWK][hapmap]
rs11142697	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs265072	0.94[AFR][1000 genomes]
rs265073	1.00[GIH][hapmap];0.90[LWK][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes]
rs265076	0.81[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs265077	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs265079	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs398222	0.85[ASN][1000 genomes]
rs404994	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4143073	0.90[YRI][hapmap]
rs4457398	0.80[LWK][hapmap];0.90[YRI][hapmap]
rs4745093	0.82[CHB][hapmap]
rs6560203	0.88[CHB][hapmap];0.83[CHD][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs7034863	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs7860486	0.81[GIH][hapmap];0.81[YRI][hapmap]
rs7861495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][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	nsv427847	chr9:70318730-71153527	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv893413	chr9:71130848-71196984	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv893411	chr9:71130848-71199545	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv893412	chr9:71130848-71199545	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1024967	chr9:71130848-71210031	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv482506	chr9:71130848-71280888	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv466392	chr9:71130848-71318817	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv614546	chr9:71130848-71318817	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1026962	chr9:71130848-71357605	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv893414	chr9:71139378-71320732	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71130200-71148000	Weak transcription	HSMMtube	muscle
2	chr9:71131000-71152600	Weak transcription	NHLF	lung
3	chr9:71137600-71156000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr9:71138200-71146000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr9:71138200-71146600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr9:71138400-71148400	Weak transcription	Esophagus	oesophagus
7	chr9:71139600-71161600	Weak transcription	Spleen	Spleen
8	chr9:71141400-71151800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr9:71143800-71146400	Enhancers	Fetal Muscle Leg	muscle
10	chr9:71144000-71146400	Enhancers	Stomach Mucosa	stomach
11	chr9:71144200-71146200	Genic enhancers	Colon Smooth Muscle	Colon
12	chr9:71144200-71146400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:71144400-71147400	Genic enhancers	Rectal Smooth Muscle	rectum
14	chr9:71144400-71147800	Enhancers	Fetal Intestine Large	intestine
15	chr9:71144800-71146600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr9:71145000-71146400	Genic enhancers	Fetal Stomach	stomach
17	chr9:71145200-71146000	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr9:71145200-71148200	Weak transcription	Right Atrium	heart
19	chr9:71145400-71146000	Enhancers	Liver	Liver
20	chr9:71145400-71146000	Genic enhancers	Fetal Lung	lung
21	chr9:71145400-71146200	Enhancers	Fetal Kidney	kidney
22	chr9:71145400-71146200	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr9:71145400-71146200	Enhancers	Small Intestine	intestine
24	chr9:71145400-71146400	Enhancers	HepG2	liver
25	chr9:71145400-71146600	Enhancers	Fetal Heart	heart
26	chr9:71145400-71147400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr9:71145400-71147400	Enhancers	Fetal Intestine Small	intestine
28	chr9:71145400-71148800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr9:71145600-71146000	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr9:71145600-71146200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
31	chr9:71145600-71146400	Enhancers	Placenta	Placenta
32	chr9:71145600-71147200	Active TSS	Primary B cells from cord blood	blood
33	chr9:71145800-71146000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
34	chr9:71145800-71146000	Enhancers	Duodenum Mucosa	Duodenum
35	chr9:71145800-71146400	Enhancers	Placenta Amnion	Placenta Amnion
36	chr9:71145800-71146400	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr9:71145800-71146800	Weak transcription	Left Ventricle	heart
38	chr9:71145800-71148400	Weak transcription	Psoas Muscle	Psoas
39	chr9:71145800-71148400	Weak transcription	Right Ventricle	heart
40	chr9:71145800-71151800	Weak transcription	Aorta	Aorta
41	chr9:71145800-71161600	Weak transcription	Gastric	stomach

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