Variant report

Variant	rs4075849
Chromosome Location	chr8:38934583-38934584
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:38933732..38936418-chr8:38947721..38949546,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10092021	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10093975	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs10113077	0.84[CHB][hapmap]
rs10441608	1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes]
rs10809000	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10809001	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11985898	0.82[CEU][hapmap];0.85[JPT][hapmap];0.87[EUR][1000 genomes]
rs12156418	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28434452	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28563781	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28564878	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28579045	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28690874	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28868044	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4269506	1.00[CEU][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4495395	0.83[CHB][hapmap]
rs4517088	1.00[CEU][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4615534	1.00[CEU][hapmap];0.85[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4733904	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4733971	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55797573	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59118660	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59814883	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6474517	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6474525	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67200247	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6991383	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6991968	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs6997721	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7001985	0.82[JPT][hapmap]
rs7006535	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7013358	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7015505	0.85[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7464810	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7818363	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7821437	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7823125	0.85[JPT][hapmap]
rs7830975	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7831735	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs7832284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7832578	0.83[CHB][hapmap]
rs7834967	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7835604	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7836422	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs7838874	0.82[CHB][hapmap]
rs7840044	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7840270	0.86[JPT][hapmap]
rs7844927	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9650347	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][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	esv3445313	chr8:38886844-38936643	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
2	esv3325011	chr8:38899844-38936643	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv1021581	chr8:38934014-39043954	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4075849	TM2D2	cis	Lymphoblastoid	GTEx
rs4075849	ADAM32	cis	Nerve Tibial	GTEx
rs4075849	ADAM32	cis	Adipose Subcutaneous	GTEx
rs4075849	ADAM32	cis	Artery Aorta	GTEx
rs4075849	ADAM32	cis	Thyroid	GTEx
rs4075849	ADAM32	cis	Artery Tibial	GTEx

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38897400-38963400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:38902400-38947600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:38905000-38960000	Weak transcription	HSMMtube	muscle
4	chr8:38911600-38947800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:38911800-38949000	Weak transcription	Brain Substantia Nigra	brain
6	chr8:38911800-38964800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:38912000-38949000	Weak transcription	Brain Angular Gyrus	brain
8	chr8:38914400-38964800	Weak transcription	Fetal Kidney	kidney
9	chr8:38914600-38935000	Weak transcription	Brain Anterior Caudate	brain
10	chr8:38914800-38964800	Weak transcription	Colonic Mucosa	Colon
11	chr8:38915200-38940000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:38917600-38944400	Weak transcription	Esophagus	oesophagus
13	chr8:38917600-38949000	Weak transcription	Spleen	Spleen
14	chr8:38918000-38962600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:38919000-38935000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr8:38919000-38944400	Weak transcription	Lung	lung
17	chr8:38919000-38949000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:38919000-38952600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr8:38919000-38970400	Weak transcription	K562	blood
20	chr8:38919600-38964800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:38920200-38934800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr8:38920400-38940800	Weak transcription	Primary B cells from cord blood	blood
23	chr8:38920600-38934600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr8:38920600-38935200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr8:38920600-38938000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr8:38920600-38963200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr8:38920800-38935200	Weak transcription	Ovary	ovary
28	chr8:38920800-38940200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:38920800-38964800	Weak transcription	Fetal Brain Male	brain
30	chr8:38921000-38934600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:38921000-38948000	Weak transcription	Aorta	Aorta
32	chr8:38921000-38948200	Weak transcription	Right Ventricle	heart
33	chr8:38921000-38949000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr8:38921000-38964800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr8:38921000-38965000	Weak transcription	Gastric	stomach
36	chr8:38921400-38935200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr8:38921600-38934800	Weak transcription	Fetal Stomach	stomach
38	chr8:38921600-38935200	Weak transcription	Fetal Muscle Leg	muscle
39	chr8:38921600-38936600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:38921600-38964800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:38922000-38950400	Weak transcription	Fetal Brain Female	brain
42	chr8:38922600-38937800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr8:38922600-38940200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr8:38922600-38940400	Weak transcription	GM12878-XiMat	blood
45	chr8:38922800-38935000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:38923600-38934800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr8:38923600-38945600	Weak transcription	Fetal Intestine Small	intestine
48	chr8:38923600-38949000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:38926200-38963600	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr8:38927600-38940600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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