Variant report

Variant	rs2297164
Chromosome Location	chr9:100328341-100328342
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:100262894..100264772-chr9:100327949..100330093,2	K562	blood:
2	chr9:100266659..100269439-chr9:100326296..100328502,2	K562	blood:
3	chr9:100318639..100320970-chr9:100327548..100329985,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136842	Chromatin interaction

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

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

rs_ID	r²[population]
rs12349848	0.80[ASN][1000 genomes]
rs2149985	0.96[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3897841	0.96[AMR][1000 genomes]
rs56164437	0.96[AMR][1000 genomes]
rs60822454	0.87[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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100321600-100331400	Weak transcription	Liver	Liver
2	chr9:100324200-100333200	Weak transcription	Spleen	Spleen
3	chr9:100324400-100329400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr9:100326800-100331800	Strong transcription	Pancreatic Islets	Pancreatic Islet
5	chr9:100326800-100337000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr9:100327000-100328800	Weak transcription	Small Intestine	intestine
7	chr9:100327000-100333200	Strong transcription	Pancreas	Pancrea
8	chr9:100327000-100349200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:100327200-100328400	Strong transcription	K562	blood
10	chr9:100327200-100329400	Weak transcription	Right Atrium	heart
11	chr9:100327200-100329600	Weak transcription	HSMMtube	muscle
12	chr9:100327200-100330200	Weak transcription	Gastric	stomach
13	chr9:100327200-100330400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr9:100327200-100333200	Strong transcription	Aorta	Aorta
15	chr9:100327200-100340000	Weak transcription	Fetal Stomach	stomach
16	chr9:100327400-100329400	Weak transcription	Lung	lung
17	chr9:100327400-100329400	Weak transcription	Psoas Muscle	Psoas
18	chr9:100327400-100330600	Weak transcription	Brain Substantia Nigra	brain
19	chr9:100327400-100331800	Strong transcription	GM12878-XiMat	blood
20	chr9:100327400-100332400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr9:100327400-100332600	Strong transcription	Brain Anterior Caudate	brain
22	chr9:100327400-100332800	Weak transcription	Adipose Nuclei	Adipose
23	chr9:100327400-100332800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr9:100327400-100333400	Weak transcription	Fetal Brain Male	brain
25	chr9:100327400-100335400	Weak transcription	Hela-S3	cervix
26	chr9:100327600-100328600	Strong transcription	Fetal Muscle Leg	muscle
27	chr9:100327600-100328800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr9:100327600-100330600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr9:100327600-100330800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr9:100327600-100332000	Weak transcription	Fetal Heart	heart
31	chr9:100327600-100332400	Strong transcription	Stomach Smooth Muscle	stomach
32	chr9:100327600-100332600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr9:100327600-100332600	Strong transcription	Ovary	ovary
34	chr9:100327600-100333000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr9:100327600-100333200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr9:100327800-100329000	Strong transcription	Colon Smooth Muscle	Colon
37	chr9:100327800-100329600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr9:100327800-100330000	Weak transcription	Brain Germinal Matrix	brain
39	chr9:100328000-100328400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr9:100328000-100330200	Weak transcription	Brain Hippocampus Middle	brain
41	chr9:100328000-100332200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr9:100328200-100328400	Genic enhancers	Brain Angular Gyrus	brain
43	chr9:100328200-100328800	Strong transcription	Fetal Brain Female	brain
44	chr9:100328200-100328800	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr9:100328200-100329000	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr9:100328200-100329200	Weak transcription	Left Ventricle	heart
47	chr9:100328200-100329400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr9:100328200-100331400	Strong transcription	Right Ventricle	heart
49	chr9:100328200-100332400	Strong transcription	Brain Inferior Temporal Lobe	brain

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