Variant report

Variant	rs10106085
Chromosome Location	chr8:38858431-38858432
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr8:38858275-38859269	A549	lung:	n/a	chr8:38858422-38858431
2	CHD1	chr8:38852795-38859264	IMR90	lung:	n/a	chr8:38854280-38854290 chr8:38854954-38854964
3	GATA2	chr8:38856987-38859131	HUVEC	blood vessel:	n/a	n/a
4	GATA3	chr8:38858274-38859446	A549	lung:	n/a	n/a
5	POLR2A	chr8:38857757-38859185	HUVEC	blood vessel:	n/a	n/a
6	STAT3	chr8:38858352-38858497	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr8:38858214-38859158	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr8:38857932-38859139	HUVEC	blood vessel:	n/a	n/a
9	GATA3	chr8:38858319-38859289	SK-N-SH	brain:	n/a	n/a
10	SP1	chr8:38856339-38859288	A549	lung:	n/a	n/a
11	TCF12	chr8:38858396-38859254	SK-N-SH	brain:	n/a	n/a
12	EP300	chr8:38858278-38859315	A549	lung:	n/a	chr8:38858419-38858433 chr8:38858859-38858869
13	GATA3	chr8:38858365-38859186	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr8:38854896-38859164	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr8:38855026-38859169	HUVEC	blood vessel:	n/a	n/a
16	TCF12	chr8:38853459-38859347	A549	lung:	n/a	chr8:38853682-38853690 chr8:38854813-38854820
17	PBX3	chr8:38858378-38859242	SK-N-SH	brain:	n/a	n/a
18	SIX5	chr8:38858245-38859131	A549	lung:	n/a	n/a
19	REST	chr8:38858263-38859230	A549	lung:	n/a	n/a
20	SP1	chr8:38858381-38859251	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:38856826..38859687-chr8:38879245..38881053,2	MCF-7	breast:
2	chr8:38849585..38851368-chr8:38856687..38858833,2	MCF-7	breast:
3	chr8:38853560..38856920-chr8:38856982..38859048,5	K562	blood:
4	chr8:38839827..38841978-chr8:38857481..38860325,2	K562	blood:

Variant related genes	Relation type
TM2D2	TF binding region
ENSG00000168615	Chromatin interaction
ENSG00000169490	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10086693	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10089487	1.00[CEU][hapmap];0.84[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10105311	0.93[ASN][1000 genomes]
rs10113077	0.95[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10958813	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs11777376	0.83[EUR][1000 genomes]
rs12056655	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs13268394	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs13282047	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28641150	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4128871	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4495395	0.95[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4733894	0.88[ASN][1000 genomes]
rs4733897	0.92[ASN][1000 genomes]
rs4733964	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6474515	0.89[ASN][1000 genomes]
rs6474516	0.89[ASN][1000 genomes]
rs6981759	0.86[ASN][1000 genomes]
rs7000059	0.88[ASN][1000 genomes]
rs7010131	0.89[ASN][1000 genomes]
rs7821237	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7832578	0.95[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7838874	0.95[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10106085	TM2D2	cis	Muscle Skeletal	GTEx

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38855200-38864600	Weak transcription	Spleen	Spleen
2	chr8:38855800-38881600	Weak transcription	Fetal Kidney	kidney
3	chr8:38856600-38860400	Weak transcription	Gastric	stomach
4	chr8:38856600-38861800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:38856600-38889600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:38856800-38858600	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr8:38856800-38859000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:38856800-38859400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr8:38856800-38859600	Weak transcription	Primary B cells from cord blood	blood
10	chr8:38856800-38860200	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr8:38856800-38862000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:38856800-38862200	Weak transcription	Aorta	Aorta
13	chr8:38856800-38862400	Weak transcription	Brain Hippocampus Middle	brain
14	chr8:38856800-38865600	Weak transcription	Dnd41	blood
15	chr8:38856800-38866600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:38856800-38866600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr8:38856800-38869400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr8:38856800-38869400	Weak transcription	Liver	Liver
19	chr8:38856800-38874400	Weak transcription	Brain Anterior Caudate	brain
20	chr8:38856800-38889600	Weak transcription	Colonic Mucosa	Colon
21	chr8:38857000-38858800	Enhancers	Fetal Heart	heart
22	chr8:38857000-38859000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr8:38857200-38858800	Enhancers	Small Intestine	intestine
24	chr8:38857200-38859000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr8:38857200-38859200	Enhancers	Colon Smooth Muscle	Colon
26	chr8:38857200-38859200	Enhancers	Stomach Mucosa	stomach
27	chr8:38857200-38859800	Flanking Active TSS	HUVEC	blood vessel
28	chr8:38857200-38881400	Weak transcription	Fetal Brain Female	brain
29	chr8:38857400-38858600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr8:38857400-38858600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr8:38857400-38858600	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr8:38857400-38859200	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr8:38857400-38859200	Enhancers	Fetal Lung	lung
34	chr8:38857400-38861000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr8:38857400-38865600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr8:38857400-38872400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr8:38857600-38858800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:38857600-38858800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr8:38857600-38858800	Enhancers	K562	blood
40	chr8:38857600-38859000	Enhancers	HMEC	breast
41	chr8:38857600-38859200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:38857600-38859600	Enhancers	GM12878-XiMat	blood
43	chr8:38857600-38860200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:38857600-38861600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:38857600-38861600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr8:38857600-38862000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr8:38857600-38864400	Weak transcription	Brain Substantia Nigra	brain
48	chr8:38857600-38866400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:38857600-38869200	Weak transcription	Brain Angular Gyrus	brain
50	chr8:38857600-38872200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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