Variant report

Variant	rs57815349
Chromosome Location	chr9:104232713-104232714
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:104232654..104234512-chr9:104236570..104239757,3	K562	blood:
2	chr9:104232214..104234343-chr9:104235852..104238668,2	K562	blood:
3	chr9:104230694..104236463-chr9:104246967..104249431,5	K562	blood:

Variant related genes	Relation type
ENSG00000165152	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10819945	0.84[ASN][1000 genomes]
rs10989528	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10989529	0.89[ASN][1000 genomes]
rs16920420	0.96[ASN][1000 genomes]
rs4742815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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	nsv1046975	chr9:104167583-104659873	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv893626	chr9:104172936-104324545	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv614962	chr9:104204614-104240708	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv949579	chr9:104229820-104512923	Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57815349	TMEM246	cis	Nerve Tibial	GTEx

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104212000-104241400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:104221800-104235000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr9:104222000-104236400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:104224800-104235000	Weak transcription	Pancreas	Pancrea
5	chr9:104225000-104237800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr9:104225400-104235800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr9:104225400-104237200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:104226000-104239200	Weak transcription	NH-A	brain
9	chr9:104226400-104236400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr9:104226600-104235200	Weak transcription	Ovary	ovary
11	chr9:104226600-104236200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr9:104226600-104238200	Weak transcription	Esophagus	oesophagus
13	chr9:104227600-104235600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr9:104227800-104234200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr9:104227800-104235000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr9:104227800-104235200	Weak transcription	Fetal Intestine Large	intestine
17	chr9:104227800-104235800	Weak transcription	Aorta	Aorta
18	chr9:104227800-104238200	Weak transcription	Colonic Mucosa	Colon
19	chr9:104227800-104242800	Weak transcription	K562	blood
20	chr9:104227800-104248200	Weak transcription	Liver	Liver
21	chr9:104228000-104235800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr9:104228000-104236600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:104228000-104238000	Weak transcription	A549	lung
24	chr9:104228000-104240000	Weak transcription	Colon Smooth Muscle	Colon
25	chr9:104228200-104235800	Weak transcription	Adipose Nuclei	Adipose
26	chr9:104228200-104237600	Weak transcription	Fetal Intestine Small	intestine
27	chr9:104228400-104234600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr9:104228400-104237800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr9:104228400-104239200	Weak transcription	Hela-S3	cervix
30	chr9:104228400-104240400	Weak transcription	Fetal Heart	heart
31	chr9:104229000-104235400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr9:104229000-104239200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr9:104229000-104239600	Weak transcription	NHEK	skin
34	chr9:104229000-104240000	Weak transcription	NHDF-Ad	bronchial
35	chr9:104229000-104248200	Weak transcription	NHLF	lung
36	chr9:104229200-104235800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr9:104229600-104234200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr9:104229600-104236600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr9:104230200-104234400	Weak transcription	Fetal Brain Female	brain
40	chr9:104230200-104238000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr9:104230400-104234800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr9:104230400-104236000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr9:104230600-104235200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr9:104230600-104236400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr9:104230800-104235800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr9:104230800-104236600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr9:104230800-104237400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr9:104230800-104237400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr9:104230800-104237800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr9:104230800-104248200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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