Variant report

Variant	rs12340607
Chromosome Location	chr9:72343205-72343206
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72342389..72347769-chr9:72348571..72355155,6	K562	blood:

Variant related genes	Relation type
ENSG00000188647	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11139900	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11139909	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11139923	1.00[AMR][1000 genomes]
rs11140150	1.00[AMR][1000 genomes]
rs12339563	1.00[AMR][1000 genomes]
rs12341262	1.00[AMR][1000 genomes]
rs7024269	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471309	chr9:72273898-72410323	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1048622	chr9:72303617-72371795	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72323600-72344400	Weak transcription	NHEK	skin
2	chr9:72323600-72360800	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr9:72323800-72357600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr9:72324200-72361000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr9:72324600-72359800	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr9:72324800-72345200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr9:72325000-72358800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr9:72325400-72346200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr9:72326000-72345000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr9:72326600-72344600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr9:72326600-72346400	Weak transcription	Small Intestine	intestine
12	chr9:72327800-72366800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:72328000-72345000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr9:72329000-72344400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr9:72329600-72345000	Weak transcription	Colon Smooth Muscle	Colon
16	chr9:72330000-72349600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr9:72330600-72346200	Weak transcription	Colonic Mucosa	Colon
18	chr9:72330600-72357400	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr9:72331200-72346600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr9:72332200-72344600	Weak transcription	Hela-S3	cervix
21	chr9:72333400-72374000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr9:72333600-72344600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr9:72333600-72344600	Weak transcription	Brain Substantia Nigra	brain
24	chr9:72333600-72345000	Weak transcription	Aorta	Aorta
25	chr9:72333600-72345000	Weak transcription	Esophagus	oesophagus
26	chr9:72333600-72345000	Weak transcription	Fetal Stomach	stomach
27	chr9:72333600-72345000	Weak transcription	Right Ventricle	heart
28	chr9:72333600-72345200	Weak transcription	Lung	lung
29	chr9:72333600-72345400	Weak transcription	NHLF	lung
30	chr9:72333800-72344400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr9:72333800-72345000	Weak transcription	Ovary	ovary
32	chr9:72335200-72350400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr9:72335400-72344600	Weak transcription	K562	blood
34	chr9:72335800-72344600	Weak transcription	Psoas Muscle	Psoas
35	chr9:72335800-72346600	Weak transcription	Fetal Intestine Small	intestine
36	chr9:72336000-72352600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr9:72336200-72344200	Weak transcription	Fetal Brain Female	brain
38	chr9:72336600-72345000	Weak transcription	HSMMtube	muscle
39	chr9:72336600-72359400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr9:72337000-72344200	Weak transcription	Fetal Heart	heart
41	chr9:72337200-72350200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:72337400-72366400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:72337600-72344600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr9:72337600-72344600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr9:72337600-72346600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr9:72338200-72344400	Weak transcription	Thymus	Thymus
47	chr9:72338200-72344400	Weak transcription	NHDF-Ad	bronchial
48	chr9:72338200-72344600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr9:72338200-72344600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr9:72338400-72344600	Weak transcription	Brain Germinal Matrix	brain

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