Variant report

Variant	rs2997652
Chromosome Location	chr9:72656879-72656880
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:72655440..72657664-chr9:72659271..72661535,2	MCF-7	breast:
2	chr9:72649187..72651016-chr9:72654412..72657228,2	K562	blood:
3	chr9:72649187..72651651-chr9:72654412..72657228,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1007127	0.89[ASN][1000 genomes]
rs10481740	0.85[ASN][1000 genomes]
rs10481741	0.85[ASN][1000 genomes]
rs10735583	0.85[ASN][1000 genomes]
rs10780811	0.85[ASN][1000 genomes]
rs1927106	0.85[ASN][1000 genomes]
rs1927115	0.81[ASN][1000 genomes]
rs2148861	0.81[ASN][1000 genomes]
rs2209779	0.83[ASN][1000 genomes]
rs2975862	0.86[ASN][1000 genomes]
rs2975890	0.85[ASN][1000 genomes]
rs2975907	0.87[ASN][1000 genomes]
rs2975908	0.85[ASN][1000 genomes]
rs2975910	0.86[ASN][1000 genomes]
rs2975915	0.87[ASN][1000 genomes]
rs2975917	0.87[ASN][1000 genomes]
rs2997664	0.87[ASN][1000 genomes]
rs2997676	0.86[ASN][1000 genomes]
rs2997677	0.86[ASN][1000 genomes]
rs2997678	0.86[ASN][1000 genomes]
rs3015168	0.86[ASN][1000 genomes]
rs3015224	0.81[ASN][1000 genomes]
rs3015232	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3015238	0.87[ASN][1000 genomes]
rs3015242	0.87[ASN][1000 genomes]
rs4744968	0.89[ASN][1000 genomes]
rs4744977	0.85[ASN][1000 genomes]
rs4744978	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893438	chr9:72363992-72720438	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1049457	chr9:72539144-72765913	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv831613	chr9:72586058-72740061	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3438997	chr9:72653223-72657079	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72647400-72657200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr9:72653400-72658400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr9:72653600-72657000	Weak transcription	HMEC	breast
4	chr9:72653600-72657200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:72653600-72657200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:72653600-72657200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr9:72653600-72657200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr9:72653600-72657200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:72653600-72657200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:72653600-72657200	Weak transcription	NHEK	skin
11	chr9:72653600-72657400	Weak transcription	Brain Hippocampus Middle	brain
12	chr9:72653600-72657600	Weak transcription	HSMM	muscle
13	chr9:72653600-72657800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr9:72653600-72657800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr9:72653600-72657800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr9:72653600-72657800	Weak transcription	Fetal Heart	heart
17	chr9:72653600-72657800	Weak transcription	Placenta	Placenta
18	chr9:72653600-72657800	Weak transcription	Right Atrium	heart
19	chr9:72653600-72657800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr9:72653600-72658000	Weak transcription	NH-A	brain
21	chr9:72653600-72658200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr9:72653600-72658200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr9:72653600-72658200	Weak transcription	Brain Substantia Nigra	brain
24	chr9:72653600-72658200	Weak transcription	Fetal Kidney	kidney
25	chr9:72653600-72658200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr9:72653600-72658200	Weak transcription	Left Ventricle	heart
27	chr9:72653600-72658200	Weak transcription	Pancreas	Pancrea
28	chr9:72653600-72658200	Weak transcription	Psoas Muscle	Psoas
29	chr9:72653600-72658200	Weak transcription	Right Ventricle	heart
30	chr9:72653600-72658200	Weak transcription	NHLF	lung
31	chr9:72653600-72658200	Weak transcription	Osteobl	bone
32	chr9:72653600-72658400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr9:72653600-72658400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:72653600-72658400	Weak transcription	Colonic Mucosa	Colon
35	chr9:72654400-72657200	Enhancers	Colon Smooth Muscle	Colon
36	chr9:72655000-72657400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr9:72655400-72657200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr9:72655600-72657200	Weak transcription	Ovary	ovary
39	chr9:72655600-72657400	Weak transcription	HSMMtube	muscle
40	chr9:72655600-72657600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr9:72655800-72657600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr9:72655800-72657600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr9:72655800-72657800	Weak transcription	Spleen	Spleen
44	chr9:72655800-72658000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr9:72655800-72658000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr9:72655800-72658200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr9:72656400-72657800	Enhancers	Rectal Smooth Muscle	rectum
48	chr9:72656600-72657600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr9:72656600-72658200	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr9:72656600-72658400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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