Variant report

Variant	rs4733897
Chromosome Location	chr8:38850585-38850586
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:38841597..38844221-chr8:38849102..38850866,2	MCF-7	breast:
2	chr8:38847973..38851292-chr8:38852746..38855360,5	MCF-7	breast:
3	chr8:38849585..38851368-chr8:38856687..38858833,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169490	Chromatin interaction
ENSG00000168615	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10089487	0.80[CHB][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs10105311	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10106085	0.92[ASN][1000 genomes]
rs10113077	0.88[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs10958813	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs11787126	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs12056655	0.81[JPT][hapmap]
rs12541231	0.81[JPT][hapmap]
rs12548006	0.88[JPT][hapmap]
rs12548948	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs12549547	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs13256952	0.81[JPT][hapmap]
rs13268394	0.81[JPT][hapmap]
rs13274567	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs13282047	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs28641150	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4128871	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4129095	0.81[JPT][hapmap]
rs4301415	0.88[AMR][1000 genomes]
rs4404880	0.81[AMR][1000 genomes]
rs4495395	0.87[CHB][hapmap];0.88[JPT][hapmap]
rs4543512	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs4733894	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4733959	0.81[CEU][hapmap];0.82[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4733964	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6474515	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6474516	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6981759	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6985572	0.85[CEU][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7000059	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7010131	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7295	0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7821237	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7831735	0.82[CHB][hapmap]
rs7832578	0.87[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs7836422	0.82[CHB][hapmap]
rs7838874	0.87[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9643904	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs9643906	0.87[JPT][hapmap]
rs9987126	0.85[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv820251	chr8:38848740-38853026	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4733897	TM2D2	cis	Muscle Skeletal	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38832600-38853000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:38845200-38851600	Strong transcription	Primary B cells from peripheral blood	blood
3	chr8:38845400-38852000	Strong transcription	Osteobl	bone
4	chr8:38845600-38851600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:38845800-38851400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr8:38845800-38851800	Strong transcription	Fetal Muscle Leg	muscle
7	chr8:38846000-38851200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:38846000-38852400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:38846200-38851400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:38846200-38851400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr8:38846200-38851400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:38846400-38850600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr8:38846400-38851600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr8:38846400-38852200	Strong transcription	Brain Inferior Temporal Lobe	brain
15	chr8:38846400-38852400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:38846400-38852400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:38846400-38852600	Strong transcription	Fetal Muscle Trunk	muscle
18	chr8:38846600-38850600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr8:38846600-38851400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:38846600-38851600	Strong transcription	Fetal Intestine Large	intestine
21	chr8:38846600-38851600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr8:38846600-38852200	Weak transcription	Fetal Heart	heart
23	chr8:38846600-38852400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:38846600-38853000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr8:38846800-38850800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:38846800-38851200	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr8:38846800-38851200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:38846800-38851200	Strong transcription	Fetal Stomach	stomach
29	chr8:38846800-38851600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr8:38846800-38852200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:38847000-38851600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:38847400-38852000	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:38847400-38852000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:38847400-38852200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr8:38847400-38852400	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr8:38847400-38852800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:38847600-38850800	Strong transcription	NHLF	lung
38	chr8:38847600-38851000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:38847600-38851000	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr8:38847600-38851200	Strong transcription	A549	lung
41	chr8:38847600-38851200	Strong transcription	NH-A	brain
42	chr8:38847600-38851400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:38847600-38851600	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr8:38847600-38851600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:38847600-38851600	Strong transcription	Duodenum Mucosa	Duodenum
46	chr8:38847600-38851800	Strong transcription	Primary T cells from cord blood	blood
47	chr8:38847600-38852000	Strong transcription	Placenta	Placenta
48	chr8:38847600-38852000	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr8:38847600-38852200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr8:38847600-38852400	Strong transcription	Fetal Thymus	thymus

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