Variant report

Variant	rs188940
Chromosome Location	chr9:102129880-102129881
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:102128251..102130553-chr9:102132131..102134825,3	K562	blood:

Variant related genes	Relation type
ENSG00000271086	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12555122	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs323738	0.84[AMR][1000 genomes]
rs421723	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56305307	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67121785	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893620	chr9:102029791-102194921	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv831667	chr9:102068047-102285691	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1046898	chr9:102111890-102163313	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102114800-102131600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:102124400-102130200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr9:102125000-102130400	Weak transcription	Colon Smooth Muscle	Colon
4	chr9:102125600-102130200	Weak transcription	Fetal Brain Female	brain
5	chr9:102126600-102131000	Enhancers	Fetal Heart	heart
6	chr9:102126800-102130400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr9:102127200-102130400	Enhancers	GM12878-XiMat	blood
8	chr9:102127200-102130400	Enhancers	NHLF	lung
9	chr9:102127400-102130400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr9:102127600-102130200	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr9:102127600-102130200	Enhancers	NHDF-Ad	bronchial
12	chr9:102127600-102130600	Enhancers	Lung	lung
13	chr9:102127800-102130400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr9:102127800-102130600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr9:102127800-102130600	Enhancers	Fetal Muscle Leg	muscle
16	chr9:102128200-102130200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr9:102128200-102130800	Weak transcription	HMEC	breast
18	chr9:102128400-102130200	Weak transcription	NH-A	brain
19	chr9:102128600-102130800	Enhancers	Psoas Muscle	Psoas
20	chr9:102128800-102130400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr9:102128800-102130800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr9:102129000-102130200	Weak transcription	Osteobl	bone
23	chr9:102129000-102130400	Weak transcription	Placenta	Placenta
24	chr9:102129000-102130400	Enhancers	Ovary	ovary
25	chr9:102129000-102130400	Weak transcription	Pancreas	Pancrea
26	chr9:102129400-102130400	Enhancers	Brain Hippocampus Middle	brain
27	chr9:102129400-102130600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr9:102129400-102131600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr9:102129600-102130000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:102129600-102130200	Enhancers	Fetal Thymus	thymus
31	chr9:102129600-102130200	Enhancers	Stomach Smooth Muscle	stomach
32	chr9:102129600-102130400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:102129600-102130400	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr9:102129600-102130400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:102129600-102130600	Enhancers	Primary hematopoietic stem cells	blood
36	chr9:102129800-102130000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr9:102129800-102130000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr9:102129800-102130000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr9:102129800-102130200	Bivalent Enhancer	Fetal Stomach	stomach
40	chr9:102129800-102130400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr9:102129800-102130400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr9:102129800-102130400	Enhancers	Brain Angular Gyrus	brain
43	chr9:102129800-102130400	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr9:102129800-102130400	Bivalent Enhancer	Fetal Lung	lung
45	chr9:102129800-102130400	Enhancers	Right Atrium	heart
46	chr9:102129800-102130400	Enhancers	Right Ventricle	heart
47	chr9:102129800-102130400	Enhancers	HUVEC	blood vessel
48	chr9:102129800-102130600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr9:102129800-102130800	Enhancers	Left Ventricle	heart
50	chr9:102129800-102132000	Enhancers	Fetal Brain Male	brain

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