Variant report

Variant	rs953390
Chromosome Location	chr9:71363249-71363250
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:71361257..71364169-chr9:71367076..71369811,4	K562	blood:
2	chr9:71317976..71320955-chr9:71361746..71363959,2	K562	blood:
3	chr9:71362013..71363947-chr9:71388418..71390450,2	K562	blood:
4	chr9:71361634..71364182-chr9:71379350..71381885,2	K562	blood:
5	chr9:71360620..71364939-chr9:71391141..71394857,5	K562	blood:
6	chr9:71360686..71364939-chr9:71391201..71394992,4	K562	blood:
7	chr9:71362860..71364586-chr9:71376737..71378891,2	K562	blood:

Variant related genes	Relation type
ENSG00000107242	Chromatin interaction
ENSG00000187866	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11789971	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs12686355	0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs13299226	0.90[ASN][1000 genomes]
rs4745236	0.82[JPT][hapmap]
rs7044422	0.81[JPT][hapmap]
rs7866673	0.81[YRI][hapmap]

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	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats 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	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv893415	chr9:71347988-71364351	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71351000-71370600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:71352400-71365800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:71355000-71364400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr9:71355000-71365400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:71355600-71364200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr9:71356200-71364800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:71357200-71363400	Strong transcription	Primary B cells from peripheral blood	blood
8	chr9:71360000-71370600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr9:71360200-71365400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr9:71360200-71370600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr9:71360600-71364000	Weak transcription	HepG2	liver
12	chr9:71361400-71363400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr9:71361600-71364400	Weak transcription	Brain Angular Gyrus	brain
14	chr9:71362000-71364000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr9:71362000-71364400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr9:71362000-71365800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr9:71362200-71364000	Weak transcription	Right Ventricle	heart
18	chr9:71362200-71364200	Weak transcription	Right Atrium	heart
19	chr9:71362200-71365600	Weak transcription	Gastric	stomach
20	chr9:71362200-71365800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr9:71362200-71370600	Weak transcription	Left Ventricle	heart
22	chr9:71362400-71364200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr9:71362400-71364200	Weak transcription	Fetal Heart	heart
24	chr9:71362600-71363400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr9:71362600-71363400	Flanking Active TSS	K562	blood
26	chr9:71362600-71364200	Weak transcription	Primary B cells from cord blood	blood
27	chr9:71362800-71365200	Weak transcription	Stomach Mucosa	stomach
28	chr9:71362800-71366000	Enhancers	Placenta	Placenta
29	chr9:71363000-71363400	Enhancers	GM12878-XiMat	blood
30	chr9:71363000-71364800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr9:71363200-71363800	Weak transcription	Fetal Intestine Large	intestine
32	chr9:71363200-71364200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr9:71363200-71364600	Weak transcription	Brain Germinal Matrix	brain
34	chr9:71363200-71364600	Weak transcription	Small Intestine	intestine
35	chr9:71363200-71364800	Genic enhancers	Fetal Intestine Small	intestine
36	chr9:71363200-71365200	Weak transcription	Duodenum Mucosa	Duodenum

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