Variant report

Variant	rs2975920
Chromosome Location	chr9:72656091-72656092
allele	C/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: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2975863	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2997674	0.82[ASN][1000 genomes]
rs2997675	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2997685	0.83[EUR][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:52 , 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	chr9:72653600-72656400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr9:72653600-72656600	Weak transcription	Esophagus	oesophagus
5	chr9:72653600-72656600	Weak transcription	Fetal Brain Male	brain
6	chr9:72653600-72657000	Weak transcription	HMEC	breast
7	chr9:72653600-72657200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:72653600-72657200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:72653600-72657200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr9:72653600-72657200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr9:72653600-72657200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:72653600-72657200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr9:72653600-72657200	Weak transcription	NHEK	skin
14	chr9:72653600-72657400	Weak transcription	Brain Hippocampus Middle	brain
15	chr9:72653600-72657600	Weak transcription	HSMM	muscle
16	chr9:72653600-72657800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr9:72653600-72657800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr9:72653600-72657800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr9:72653600-72657800	Weak transcription	Fetal Heart	heart
20	chr9:72653600-72657800	Weak transcription	Placenta	Placenta
21	chr9:72653600-72657800	Weak transcription	Right Atrium	heart
22	chr9:72653600-72657800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr9:72653600-72658000	Weak transcription	NH-A	brain
24	chr9:72653600-72658200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr9:72653600-72658200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr9:72653600-72658200	Weak transcription	Brain Substantia Nigra	brain
27	chr9:72653600-72658200	Weak transcription	Fetal Kidney	kidney
28	chr9:72653600-72658200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr9:72653600-72658200	Weak transcription	Left Ventricle	heart
30	chr9:72653600-72658200	Weak transcription	Pancreas	Pancrea
31	chr9:72653600-72658200	Weak transcription	Psoas Muscle	Psoas
32	chr9:72653600-72658200	Weak transcription	Right Ventricle	heart
33	chr9:72653600-72658200	Weak transcription	NHLF	lung
34	chr9:72653600-72658200	Weak transcription	Osteobl	bone
35	chr9:72653600-72658400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr9:72653600-72658400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr9:72653600-72658400	Weak transcription	Colonic Mucosa	Colon
38	chr9:72654400-72657200	Enhancers	Colon Smooth Muscle	Colon
39	chr9:72654600-72656600	Enhancers	Stomach Smooth Muscle	stomach
40	chr9:72655000-72657400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr9:72655400-72657200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr9:72655600-72657200	Weak transcription	Ovary	ovary
43	chr9:72655600-72657400	Weak transcription	HSMMtube	muscle
44	chr9:72655600-72657600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr9:72655800-72657600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr9:72655800-72657600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr9:72655800-72657800	Weak transcription	Spleen	Spleen
48	chr9:72655800-72658000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr9:72655800-72658000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr9:72655800-72658200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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