Variant report

Variant	rs1330125
Chromosome Location	chr9:100280789-100280790
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:100261551..100268695-chr9:100276294..100284368,9	K562	blood:
2	chr9:100263870..100268695-chr9:100278539..100283481,6	K562	blood:
3	chr9:100278406..100280655-chr9:100280700..100282363,2	K562	blood:
4	chr7:100025955..100026703-chr9:100279823..100280842,5	HCT-116	colon:
5	chr9:100263723..100266310-chr9:100280606..100282475,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146834	Chromatin interaction
ENSG00000228174	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000136842	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10982506	1.00[EUR][1000 genomes]
rs10982510	1.00[EUR][1000 genomes]
rs16921066	0.80[CHB][hapmap]
rs16921086	0.90[CHB][hapmap]
rs16921422	1.00[EUR][1000 genomes]
rs7028047	1.00[AMR][1000 genomes]
rs7341934	1.00[AMR][1000 genomes]
rs7851516	1.00[AMR][1000 genomes]
rs7855009	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893609	chr9:100163998-100297592	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100266400-100285200	Weak transcription	Aorta	Aorta
2	chr9:100267800-100289200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:100273800-100286200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr9:100273800-100291200	Weak transcription	Brain Angular Gyrus	brain
5	chr9:100274000-100281000	Weak transcription	HSMMtube	muscle
6	chr9:100274000-100290800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr9:100274000-100318400	Weak transcription	Gastric	stomach
8	chr9:100274800-100289800	Weak transcription	Fetal Brain Female	brain
9	chr9:100275200-100284200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr9:100275400-100287600	Enhancers	Psoas Muscle	Psoas
11	chr9:100275800-100281200	Enhancers	Left Ventricle	heart
12	chr9:100277000-100280800	Enhancers	Stomach Smooth Muscle	stomach
13	chr9:100277000-100287200	Enhancers	Fetal Heart	heart
14	chr9:100277200-100281800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr9:100277400-100281000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr9:100277800-100281000	Enhancers	Right Atrium	heart
17	chr9:100278000-100281600	Enhancers	Ovary	ovary
18	chr9:100279000-100281400	Weak transcription	Brain Hippocampus Middle	brain
19	chr9:100279000-100289600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:100279200-100281000	Enhancers	K562	blood
21	chr9:100279200-100284000	Weak transcription	Brain Anterior Caudate	brain
22	chr9:100279600-100281000	Enhancers	Esophagus	oesophagus
23	chr9:100279600-100281800	Enhancers	Pancreas	Pancrea
24	chr9:100279600-100282200	Enhancers	Lung	lung
25	chr9:100279800-100281000	Enhancers	Hela-S3	cervix
26	chr9:100279800-100282200	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr9:100280000-100280800	Enhancers	Rectal Smooth Muscle	rectum
28	chr9:100280000-100281200	Enhancers	GM12878-XiMat	blood
29	chr9:100280000-100282200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr9:100280200-100281200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr9:100280200-100281400	Enhancers	Spleen	Spleen
32	chr9:100280400-100281000	Enhancers	Stomach Mucosa	stomach
33	chr9:100280400-100281200	Enhancers	Small Intestine	intestine
34	chr9:100280400-100281800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:100280400-100282000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr9:100280400-100282000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr9:100280400-100282000	Enhancers	HUVEC	blood vessel
38	chr9:100280400-100282200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr9:100280400-100282200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr9:100280400-100282400	Enhancers	Primary hematopoietic stem cells	blood
41	chr9:100280600-100280800	Enhancers	A549	lung
42	chr9:100280600-100281000	Genic enhancers	Right Ventricle	heart
43	chr9:100280600-100281800	Flanking Active TSS	Colon Smooth Muscle	Colon
44	chr9:100280600-100282000	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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