Variant report

Variant	rs2781538
Chromosome Location	chr9:72078866-72078867
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72068242..72070671-chr9:72077608..72079150,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10780336	0.80[CHB][hapmap]
rs1334311	0.80[CHB][hapmap]
rs2781536	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4112222	0.80[CHB][hapmap]
rs4458929	0.80[CHB][hapmap]
rs4492445	0.80[CHB][hapmap]
rs870695	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs959613	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817406	chr9:71675454-72179318	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1047593	chr9:71971536-72180583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer 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
3	nsv1035633	chr9:71995963-72176984	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1048650	chr9:72028458-72179847	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1052872	chr9:72040184-72081554	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1037109	chr9:72040184-72120270	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1039966	chr9:72057304-72181564	Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72036600-72082600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr9:72044200-72084400	Weak transcription	Fetal Intestine Small	intestine
3	chr9:72045000-72084400	Weak transcription	Fetal Intestine Large	intestine
4	chr9:72046400-72085600	Weak transcription	Colon Smooth Muscle	Colon
5	chr9:72047000-72081800	Weak transcription	Fetal Kidney	kidney
6	chr9:72056000-72082600	Weak transcription	Pancreas	Pancrea
7	chr9:72056400-72080800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr9:72058200-72080200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr9:72059400-72080200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:72064600-72084200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr9:72064600-72084200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr9:72064800-72083800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr9:72066200-72081000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr9:72067600-72080800	Weak transcription	NHDF-Ad	bronchial
15	chr9:72067800-72080800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr9:72069000-72080600	Weak transcription	Left Ventricle	heart
17	chr9:72070400-72080000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr9:72070600-72081000	Weak transcription	Brain Substantia Nigra	brain
19	chr9:72070800-72085600	Weak transcription	Gastric	stomach
20	chr9:72071000-72080400	Weak transcription	Fetal Muscle Leg	muscle
21	chr9:72071400-72080000	Weak transcription	Adipose Nuclei	Adipose
22	chr9:72071400-72080200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr9:72071400-72080800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr9:72071600-72079600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr9:72071600-72080400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr9:72072000-72079600	Weak transcription	Fetal Stomach	stomach
27	chr9:72072000-72080400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr9:72072000-72080600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr9:72072400-72084000	Weak transcription	Fetal Heart	heart
30	chr9:72075200-72079800	Weak transcription	Brain Germinal Matrix	brain
31	chr9:72075200-72080400	Weak transcription	Brain Hippocampus Middle	brain
32	chr9:72075200-72081200	Weak transcription	Fetal Lung	lung
33	chr9:72075600-72081200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr9:72076400-72080600	Weak transcription	Fetal Brain Female	brain
35	chr9:72077200-72086800	Weak transcription	Fetal Brain Male	brain
36	chr9:72077400-72080200	Weak transcription	Brain Angular Gyrus	brain
37	chr9:72077400-72081400	Weak transcription	Brain Anterior Caudate	brain
38	chr9:72077800-72079000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr9:72077800-72080600	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr9:72077800-72082600	Weak transcription	Aorta	Aorta
41	chr9:72078000-72079200	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr9:72078000-72079200	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr9:72078200-72079000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr9:72078200-72079200	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr9:72078400-72079000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr9:72078400-72079000	Enhancers	Ovary	ovary
47	chr9:72078400-72079200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr9:72078400-72079200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr9:72078400-72081400	Enhancers	Liver	Liver
50	chr9:72078400-72084000	Weak transcription	Placenta	Placenta

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