Variant report

Variant	rs2149985
Chromosome Location	chr9:100332376-100332377
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:100331492..100333368-chr9:100335840..100338156,2	K562	blood:
2	chr9:100329621..100332516-chr9:100354478..100356652,2	K562	blood:
3	chr9:100289928..100292573-chr9:100328565..100332517,3	K562	blood:

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

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

rs_ID	r²[population]
rs12349848	0.82[ASN][1000 genomes]
rs2297164	0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3897841	1.00[AMR][1000 genomes]
rs56164437	1.00[AMR][1000 genomes]
rs60822454	0.90[AMR][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	nsv1039240	chr9:100292680-100415269	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv540179	chr9:100292680-100415269	Genic enhancers Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer 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	27 gene(s)	inside rSNPs	diseases
3	nsv893610	chr9:100324086-100496160	Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100324200-100333200	Weak transcription	Spleen	Spleen
2	chr9:100326800-100337000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr9:100327000-100333200	Strong transcription	Pancreas	Pancrea
4	chr9:100327000-100349200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:100327200-100333200	Strong transcription	Aorta	Aorta
6	chr9:100327200-100340000	Weak transcription	Fetal Stomach	stomach
7	chr9:100327400-100332400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr9:100327400-100332600	Strong transcription	Brain Anterior Caudate	brain
9	chr9:100327400-100332800	Weak transcription	Adipose Nuclei	Adipose
10	chr9:100327400-100332800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr9:100327400-100333400	Weak transcription	Fetal Brain Male	brain
12	chr9:100327400-100335400	Weak transcription	Hela-S3	cervix
13	chr9:100327600-100332400	Strong transcription	Stomach Smooth Muscle	stomach
14	chr9:100327600-100332600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr9:100327600-100332600	Strong transcription	Ovary	ovary
16	chr9:100327600-100333000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr9:100327600-100333200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr9:100328200-100332400	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr9:100329000-100333400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
20	chr9:100329200-100332600	Strong transcription	Left Ventricle	heart
21	chr9:100330200-100332600	Strong transcription	Brain Hippocampus Middle	brain
22	chr9:100330200-100332600	Weak transcription	Psoas Muscle	Psoas
23	chr9:100330200-100332600	Weak transcription	HSMMtube	muscle
24	chr9:100330200-100333600	Strong transcription	Gastric	stomach
25	chr9:100330400-100333000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr9:100330400-100339400	Weak transcription	Brain Germinal Matrix	brain
27	chr9:100330800-100332400	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr9:100330800-100336200	Strong transcription	K562	blood
29	chr9:100331000-100332800	Strong transcription	Brain Angular Gyrus	brain
30	chr9:100331000-100333200	Weak transcription	Right Atrium	heart
31	chr9:100331000-100334600	Strong transcription	Lung	lung
32	chr9:100331200-100334200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr9:100331200-100335200	Genic enhancers	Fetal Muscle Leg	muscle
34	chr9:100331400-100332800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr9:100331400-100333200	Weak transcription	Right Ventricle	heart
36	chr9:100331600-100332400	Weak transcription	Brain Substantia Nigra	brain
37	chr9:100331600-100332600	Weak transcription	Fetal Brain Female	brain
38	chr9:100331600-100333200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr9:100331800-100332600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr9:100331800-100332800	Weak transcription	GM12878-XiMat	blood
41	chr9:100332000-100332800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr9:100332000-100333800	Genic enhancers	Colon Smooth Muscle	Colon
43	chr9:100332000-100335000	Genic enhancers	Fetal Heart	heart
44	chr9:100332200-100332600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr9:100332200-100333000	Weak transcription	Liver	Liver

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