Variant report

Variant	rs13282047
Chromosome Location	chr8:38864860-38864861
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:38864002..38868323-chr8:38871441..38875404,3	K562	blood:
2	chr8:38863652..38865668-chr8:38878061..38880403,2	K562	blood:
3	chr8:38862655..38865286-chr8:38875062..38877246,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207199	Chromatin interaction
ENSG00000168615	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10086693	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10089487	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10105311	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10106085	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10113077	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10958813	0.84[EUR][1000 genomes]
rs11777376	0.84[EUR][1000 genomes]
rs12056655	0.84[EUR][1000 genomes]
rs13268394	0.84[EUR][1000 genomes]
rs28641150	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs34138150	0.81[EUR][1000 genomes]
rs35534138	0.81[EUR][1000 genomes]
rs4128871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4129095	0.81[EUR][1000 genomes]
rs4495395	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4733894	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4733897	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4733901	0.81[EUR][1000 genomes]
rs4733964	0.89[ASN][1000 genomes]
rs4733970	0.81[EUR][1000 genomes]
rs6474515	0.88[ASN][1000 genomes]
rs6474516	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6981759	0.85[ASN][1000 genomes]
rs7000059	0.87[ASN][1000 genomes]
rs7010131	0.88[ASN][1000 genomes]
rs7821237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7832578	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7838874	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13282047	TM2D2	cis	Muscle Skeletal	GTEx

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38855800-38881600	Weak transcription	Fetal Kidney	kidney
2	chr8:38856600-38889600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:38856800-38865600	Weak transcription	Dnd41	blood
4	chr8:38856800-38866600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr8:38856800-38866600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr8:38856800-38869400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:38856800-38869400	Weak transcription	Liver	Liver
8	chr8:38856800-38874400	Weak transcription	Brain Anterior Caudate	brain
9	chr8:38856800-38889600	Weak transcription	Colonic Mucosa	Colon
10	chr8:38857200-38881400	Weak transcription	Fetal Brain Female	brain
11	chr8:38857400-38865600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:38857400-38872400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr8:38857600-38866400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:38857600-38869200	Weak transcription	Brain Angular Gyrus	brain
15	chr8:38857600-38872200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr8:38857800-38865000	Enhancers	HepG2	liver
17	chr8:38857800-38865600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr8:38857800-38865800	Weak transcription	Fetal Intestine Large	intestine
19	chr8:38858000-38874200	Weak transcription	Fetal Brain Male	brain
20	chr8:38858000-38874400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr8:38858200-38867400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:38858200-38867800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr8:38858200-38875200	Weak transcription	Esophagus	oesophagus
24	chr8:38859000-38865600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:38859000-38866600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr8:38860600-38869400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:38860600-38875000	Weak transcription	Gastric	stomach
28	chr8:38860800-38865000	Enhancers	Fetal Heart	heart
29	chr8:38861800-38865400	Enhancers	Fetal Lung	lung
30	chr8:38862000-38865200	Enhancers	HUVEC	blood vessel
31	chr8:38862200-38865600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr8:38862400-38866600	Weak transcription	Lung	lung
33	chr8:38862400-38871000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:38862600-38884400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr8:38862800-38865000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:38862800-38865200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:38862800-38865600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr8:38862800-38865600	Weak transcription	Fetal Stomach	stomach
39	chr8:38862800-38865800	Weak transcription	HSMMtube	muscle
40	chr8:38862800-38866400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr8:38862800-38866600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr8:38862800-38869400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr8:38862800-38869400	Weak transcription	Pancreas	Pancrea
44	chr8:38862800-38873200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr8:38862800-38878200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr8:38863000-38865000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:38863000-38865000	Genic enhancers	Osteobl	bone
48	chr8:38863000-38865400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:38863200-38865400	Enhancers	A549	lung
50	chr8:38863200-38866400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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