Variant report

Variant	rs4743990
Chromosome Location	chr9:97898481-97898482
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	chr9:97898268..97900178-chr9:97902797..97905097,2	K562	blood:

Variant related genes	Relation type
ENSG00000251884	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10283758	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10993475	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs10993479	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10993483	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10993503	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12337959	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12338907	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12342782	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12344626	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12350646	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12352586	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12377946	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17679141	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1886992	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1889241	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28626189	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4237226	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4647372	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4647373	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4647401	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4647404	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4647421	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4647432	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4647441	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4744443	0.88[EUR][1000 genomes]
rs4744444	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4744445	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4744453	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56134407	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62560523	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7357617	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs879559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv933919	chr9:97619512-97919344	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	293 gene(s)	inside rSNPs	diseases
2	nsv1038523	chr9:97797032-97923774	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases
3	nsv540175	chr9:97797032-97923774	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases
4	nsv831656	chr9:97831551-97989980	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	274 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97875400-97900400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr9:97875600-97900000	Weak transcription	Spleen	Spleen
3	chr9:97875600-97906000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr9:97887400-97916400	Weak transcription	Thymus	Thymus
5	chr9:97888000-97900000	Weak transcription	Primary T cells from cord blood	blood
6	chr9:97890000-97898600	Weak transcription	Left Ventricle	heart
7	chr9:97890000-97898600	Weak transcription	Right Atrium	heart
8	chr9:97890000-97900000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr9:97890000-97906600	Weak transcription	Right Ventricle	heart
10	chr9:97890000-97919600	Weak transcription	Hela-S3	cervix
11	chr9:97890000-97928000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr9:97890200-97900400	Weak transcription	Esophagus	oesophagus
13	chr9:97890400-97902800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr9:97890600-97900000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr9:97890600-97900000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr9:97892600-97900400	Weak transcription	Brain Germinal Matrix	brain
17	chr9:97893200-97901600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr9:97893800-97904800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr9:97893800-97905400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr9:97893800-97905800	Weak transcription	Osteobl	bone
21	chr9:97893800-97906400	Weak transcription	Ovary	ovary
22	chr9:97893800-97912600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:97893800-97918800	Weak transcription	Gastric	stomach
24	chr9:97893800-97940400	Weak transcription	Pancreas	Pancrea
25	chr9:97894200-97906200	Weak transcription	Colon Smooth Muscle	Colon
26	chr9:97894200-97909800	Weak transcription	A549	lung
27	chr9:97894200-97925600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:97894600-97899400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr9:97894600-97905000	Weak transcription	Fetal Lung	lung
30	chr9:97894800-97905400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr9:97895000-97900200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr9:97895600-97899600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr9:97895600-97901000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr9:97895800-97899400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr9:97895800-97900600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr9:97895800-97903000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr9:97896000-97900200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr9:97896000-97900600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr9:97896000-97909800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:97896400-97910200	Weak transcription	Small Intestine	intestine
41	chr9:97896400-97918400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr9:97896400-97920000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr9:97896600-97905600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr9:97896800-97900600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr9:97897000-97910000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr9:97897200-97899400	Weak transcription	Fetal Intestine Small	intestine
47	chr9:97897200-97900000	Weak transcription	Fetal Stomach	stomach
48	chr9:97897200-97900000	Weak transcription	Lung	lung
49	chr9:97897200-97900200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr9:97897200-97900200	Weak transcription	Fetal Muscle Leg	muscle

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