Variant report

Variant	rs4495395
Chromosome Location	chr8:38893477-38893478
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:38853505..38856171-chr8:38893000..38895883,3	K562	blood:

Variant related genes	Relation type
ENSG00000168615	Chromatin interaction
ENSG00000169490	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10086693	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10089487	0.83[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10106085	0.95[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10113077	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10441608	0.80[CHB][hapmap]
rs10809000	0.83[CHB][hapmap]
rs10958813	0.81[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes]
rs11777376	0.83[EUR][1000 genomes]
rs11784624	0.83[CHB][hapmap]
rs11787126	0.81[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes]
rs12056655	0.81[CHB][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs12541231	0.81[CHB][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs12543921	0.81[EUR][1000 genomes]
rs12548006	0.86[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]
rs12548948	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs12549547	0.81[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes]
rs13248324	0.81[EUR][1000 genomes]
rs13256952	0.81[CHB][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs13268394	0.81[CHB][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs13274567	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs13282047	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34138150	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34185462	0.81[EUR][1000 genomes]
rs35534138	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4075849	0.83[CHB][hapmap]
rs4128871	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4129095	0.81[CHB][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4236755	0.85[MEX][hapmap];0.83[TSI][hapmap]
rs4308699	0.81[MEX][hapmap];0.83[TSI][hapmap]
rs4543512	0.81[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes]
rs4601278	0.86[MEX][hapmap];0.81[TSI][hapmap]
rs4733897	0.87[CHB][hapmap];0.88[JPT][hapmap]
rs4733901	0.81[EUR][1000 genomes]
rs4733905	0.86[GIH][hapmap];0.82[JPT][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs4733959	0.82[JPT][hapmap]
rs4733964	0.87[CHB][hapmap];0.86[CHD][hapmap];0.88[JPT][hapmap];0.82[TSI][hapmap]
rs4733970	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6474516	0.81[CHB][hapmap];0.86[CHD][hapmap];0.88[JPT][hapmap]
rs6474525	0.83[CHB][hapmap]
rs66925354	0.81[EUR][1000 genomes]
rs6991383	0.83[CHB][hapmap];0.81[CHD][hapmap]
rs7015505	0.83[CHB][hapmap];0.81[CHD][hapmap]
rs7818363	0.83[CHB][hapmap]
rs7821237	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7821437	0.82[CHB][hapmap]
rs7832284	0.82[CHB][hapmap]
rs7832578	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.91[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7834967	0.83[CHB][hapmap]
rs7838874	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7840044	0.83[CHB][hapmap]
rs9643858	0.81[EUR][1000 genomes]
rs9643904	0.81[CHB][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap]
rs9643906	0.93[JPT][hapmap]
rs9650347	0.83[CHB][hapmap]

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	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

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs4495395	TM2D2	cis	cerebellum	SCAN
rs4495395	ADAM32	cis	cerebellum	SCAN
rs4495395	SGK196	cis	parietal	SCAN
rs4495395	TM2D2	cis	Muscle Skeletal	GTEx
rs4495395	PLEKHA2	cis	lymphoblastoid	seeQTL
rs4495395	DDHD2	cis	cerebellum	SCAN
rs4495395	ADAM32	cis	parietal	SCAN
rs4495395	TM2D2	cis	parietal	SCAN
rs4495395	PLEKHA2	cis	lesional skin	skin_eQTL

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38869600-38902800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:38875800-38895400	Weak transcription	Brain Angular Gyrus	brain
3	chr8:38882000-38913600	Weak transcription	Fetal Kidney	kidney
4	chr8:38882800-38895000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:38882800-38895000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:38883000-38895000	Weak transcription	Spleen	Spleen
7	chr8:38883000-38913000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr8:38885000-38895400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:38885000-38895400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr8:38885000-38896400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr8:38885000-38899400	Weak transcription	Liver	Liver
12	chr8:38885200-38895200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:38885200-38895400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr8:38885200-38902800	Weak transcription	Psoas Muscle	Psoas
15	chr8:38885400-38904400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:38885600-38903600	Weak transcription	Fetal Brain Female	brain
17	chr8:38885800-38895200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr8:38885800-38911200	Weak transcription	Ovary	ovary
19	chr8:38886000-38894200	Weak transcription	HSMMtube	muscle
20	chr8:38886000-38899400	Weak transcription	Brain Substantia Nigra	brain
21	chr8:38886400-38895000	Weak transcription	Adipose Nuclei	Adipose
22	chr8:38886400-38895000	Weak transcription	Small Intestine	intestine
23	chr8:38886400-38895200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:38886400-38904400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr8:38886600-38895200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr8:38887000-38895200	Weak transcription	Brain Anterior Caudate	brain
27	chr8:38887200-38895000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr8:38887400-38895200	Weak transcription	Colon Smooth Muscle	Colon
29	chr8:38887400-38911200	Weak transcription	Aorta	Aorta
30	chr8:38887800-38895400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:38887800-38895400	Weak transcription	Brain Hippocampus Middle	brain
32	chr8:38888000-38895000	Weak transcription	Placenta	Placenta
33	chr8:38888000-38895400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr8:38888000-38895600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr8:38888000-38899600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr8:38888200-38895200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:38888200-38897000	Weak transcription	Fetal Intestine Large	intestine
38	chr8:38888200-38904400	Weak transcription	GM12878-XiMat	blood
39	chr8:38888400-38893800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr8:38888400-38895400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:38888400-38895800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:38888400-38905400	Weak transcription	Primary B cells from cord blood	blood
43	chr8:38888800-38901600	Weak transcription	Fetal Brain Male	brain
44	chr8:38889000-38899600	Weak transcription	Fetal Lung	lung
45	chr8:38889600-38894400	Genic enhancers	Muscle Satellite Cultured Cells	--
46	chr8:38890000-38895800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr8:38890000-38904400	Weak transcription	Gastric	stomach
48	chr8:38890200-38895000	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr8:38890200-38895000	Weak transcription	Fetal Stomach	stomach
50	chr8:38890200-38895000	Weak transcription	Right Atrium	heart

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