Variant report

Variant	rs41305537
Chromosome Location	chr9:71152074-71152075
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:71150643..71152948-chr9:71155677..71157843,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181778	Chromatin interaction
ENSG00000226337	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10120745	0.84[AFR][1000 genomes]
rs10124105	0.84[AFR][1000 genomes]
rs11142713	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11142714	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12341862	0.84[AFR][1000 genomes]
rs12348463	0.84[AFR][1000 genomes]
rs12349403	0.84[AFR][1000 genomes]
rs12552415	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28685588	0.84[AFR][1000 genomes]
rs41312182	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714401	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72716004	0.96[AMR][1000 genomes];0.98[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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71131000-71152600	Weak transcription	NHLF	lung
2	chr9:71137600-71156000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr9:71139600-71161600	Weak transcription	Spleen	Spleen
4	chr9:71145800-71161600	Weak transcription	Gastric	stomach
5	chr9:71146200-71155400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr9:71146400-71156000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:71148000-71153800	Enhancers	Colon Smooth Muscle	Colon
8	chr9:71148000-71153800	Enhancers	Rectal Smooth Muscle	rectum
9	chr9:71148800-71156400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr9:71149200-71154400	Weak transcription	Fetal Kidney	kidney
11	chr9:71149400-71155400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr9:71150200-71153800	Enhancers	HSMMtube	muscle
13	chr9:71150400-71153800	Enhancers	Fetal Muscle Leg	muscle
14	chr9:71150800-71153800	Enhancers	Fetal Heart	heart
15	chr9:71151600-71152200	Enhancers	Right Ventricle	heart
16	chr9:71151600-71152400	Enhancers	Fetal Intestine Large	intestine
17	chr9:71151600-71153000	Enhancers	Fetal Stomach	stomach
18	chr9:71151600-71153000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr9:71151800-71152200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:71151800-71152200	Enhancers	Fetal Intestine Small	intestine
21	chr9:71151800-71152200	Enhancers	Placenta	Placenta
22	chr9:71151800-71152200	Enhancers	Lung	lung
23	chr9:71151800-71152400	Enhancers	Fetal Muscle Trunk	muscle
24	chr9:71151800-71152400	Enhancers	Stomach Mucosa	stomach
25	chr9:71151800-71152600	Enhancers	Aorta	Aorta
26	chr9:71151800-71153400	Enhancers	Fetal Lung	lung
27	chr9:71151800-71153600	Enhancers	Left Ventricle	heart
28	chr9:71151800-71153800	Enhancers	Fetal Brain Male	brain
29	chr9:71151800-71154200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr9:71152000-71152400	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr9:71152000-71153000	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr9:71152000-71153400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr9:71152000-71153600	Enhancers	Right Atrium	heart
34	chr9:71152000-71153800	Enhancers	Psoas Muscle	Psoas

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