Variant report

Variant	rs73501249
Chromosome Location	chr9:104235147-104235148
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:104231072..104233238-chr9:104234059..104235841,2	MCF-7	breast:
2	chr9:104230694..104236463-chr9:104246967..104249431,5	K562	blood:
3	chr9:104234812..104237553-chr9:104247151..104249445,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225376	Chromatin interaction
ENSG00000165152	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10120568	1.00[AMR][1000 genomes]
rs73501240	0.87[AFR][1000 genomes]
rs73501242	0.87[AFR][1000 genomes]
rs73501243	0.87[AFR][1000 genomes]
rs73501246	0.87[AFR][1000 genomes]
rs73501248	0.87[AFR][1000 genomes]
rs73501265	1.00[AMR][1000 genomes]
rs73501266	1.00[AMR][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	nsv1046975	chr9:104167583-104659873	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv893626	chr9:104172936-104324545	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv614962	chr9:104204614-104240708	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv949579	chr9:104229820-104512923	Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104212000-104241400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:104222000-104236400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr9:104225000-104237800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr9:104225400-104235800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr9:104225400-104237200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:104226000-104239200	Weak transcription	NH-A	brain
7	chr9:104226400-104236400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr9:104226600-104235200	Weak transcription	Ovary	ovary
9	chr9:104226600-104236200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:104226600-104238200	Weak transcription	Esophagus	oesophagus
11	chr9:104227600-104235600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr9:104227800-104235200	Weak transcription	Fetal Intestine Large	intestine
13	chr9:104227800-104235800	Weak transcription	Aorta	Aorta
14	chr9:104227800-104238200	Weak transcription	Colonic Mucosa	Colon
15	chr9:104227800-104242800	Weak transcription	K562	blood
16	chr9:104227800-104248200	Weak transcription	Liver	Liver
17	chr9:104228000-104235800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr9:104228000-104236600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:104228000-104238000	Weak transcription	A549	lung
20	chr9:104228000-104240000	Weak transcription	Colon Smooth Muscle	Colon
21	chr9:104228200-104235800	Weak transcription	Adipose Nuclei	Adipose
22	chr9:104228200-104237600	Weak transcription	Fetal Intestine Small	intestine
23	chr9:104228400-104237800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr9:104228400-104239200	Weak transcription	Hela-S3	cervix
25	chr9:104228400-104240400	Weak transcription	Fetal Heart	heart
26	chr9:104229000-104235400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr9:104229000-104239200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr9:104229000-104239600	Weak transcription	NHEK	skin
29	chr9:104229000-104240000	Weak transcription	NHDF-Ad	bronchial
30	chr9:104229000-104248200	Weak transcription	NHLF	lung
31	chr9:104229200-104235800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr9:104229600-104236600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr9:104230200-104238000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr9:104230400-104236000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr9:104230600-104235200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr9:104230600-104236400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr9:104230800-104235800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr9:104230800-104236600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr9:104230800-104237400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr9:104230800-104237400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr9:104230800-104237800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr9:104230800-104248200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr9:104231000-104236200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr9:104231000-104236200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr9:104231000-104238200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr9:104231000-104248000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr9:104231200-104236000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr9:104231400-104236000	Weak transcription	Brain Angular Gyrus	brain
49	chr9:104231400-104238200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr9:104231600-104235800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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