Variant report

Variant	rs6474516
Chromosome Location	chr8:38847433-38847434
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	chr8:38841357..38843525-chr8:38845829..38848032,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10089487	0.89[CHD][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs10093975	0.84[CHD][hapmap]
rs10105311	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10106085	0.89[ASN][1000 genomes]
rs10113077	0.81[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs10958813	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs11787126	0.81[JPT][hapmap]
rs12056655	0.81[JPT][hapmap]
rs12541231	0.81[JPT][hapmap]
rs12548006	0.88[JPT][hapmap]
rs12548948	0.81[JPT][hapmap]
rs12549547	0.81[JPT][hapmap]
rs13256952	0.81[JPT][hapmap]
rs13268394	0.81[JPT][hapmap]
rs13274567	0.81[JPT][hapmap]
rs13282047	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs28641150	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4128871	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4129095	0.81[JPT][hapmap]
rs4301415	0.88[AMR][1000 genomes]
rs4404880	0.81[AMR][1000 genomes]
rs4495395	0.81[CHB][hapmap];0.86[CHD][hapmap];0.88[JPT][hapmap]
rs4543512	0.81[JPT][hapmap]
rs4733894	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4733897	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]
rs4733959	0.88[CEU][hapmap];0.88[CHB][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.86[LWK][hapmap];0.88[TSI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4733964	0.82[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6474515	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981759	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6985572	0.85[CHD][hapmap];0.88[JPT][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7000059	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7010131	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295	0.85[CHD][hapmap];0.81[JPT][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7821237	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7831735	0.84[CHD][hapmap]
rs7832578	0.81[CHB][hapmap];0.86[CHD][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs7836422	0.83[CHD][hapmap]
rs7838874	0.80[CHB][hapmap];0.93[CHD][hapmap];0.88[JPT][hapmap];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7840270	0.81[CHD][hapmap]
rs9643904	0.81[JPT][hapmap]
rs9643906	0.86[JPT][hapmap]
rs9987126	0.80[CHB][hapmap];0.85[CHD][hapmap];0.81[JPT][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs6474516	TM2D2	cis	parietal	SCAN
rs6474516	TM2D2	cis	Muscle Skeletal	GTEx
rs6474516	DDHD2	cis	cerebellum	SCAN
rs6474516	ADAM32	cis	parietal	SCAN
rs6474516	TM2D2	cis	cerebellum	SCAN
rs6474516	ADAM32	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38824200-38847800	Weak transcription	Brain Substantia Nigra	brain
2	chr8:38824200-38848400	Weak transcription	Brain Angular Gyrus	brain
3	chr8:38824200-38848800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr8:38827800-38847600	Weak transcription	Small Intestine	intestine
5	chr8:38828000-38847600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr8:38828000-38848000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr8:38828400-38848200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr8:38828800-38848400	Weak transcription	HSMMtube	muscle
9	chr8:38829000-38847600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:38829000-38847600	Weak transcription	Hela-S3	cervix
11	chr8:38829000-38847800	Weak transcription	Aorta	Aorta
12	chr8:38829000-38847800	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:38829000-38848400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:38830000-38847800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr8:38831600-38848200	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:38831800-38847800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:38831800-38848400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr8:38832000-38847800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:38832000-38848000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr8:38832000-38848200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr8:38832000-38848600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr8:38832200-38847800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr8:38832200-38848400	Weak transcription	Ovary	ovary
24	chr8:38832400-38847800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:38832400-38847800	Weak transcription	Brain Anterior Caudate	brain
26	chr8:38832400-38847800	Weak transcription	HMEC	breast
27	chr8:38832400-38848000	Weak transcription	Adipose Nuclei	Adipose
28	chr8:38832400-38848400	Weak transcription	Right Ventricle	heart
29	chr8:38832400-38848800	Weak transcription	Pancreas	Pancrea
30	chr8:38832600-38847600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr8:38832600-38848600	Weak transcription	Esophagus	oesophagus
32	chr8:38832600-38848800	Weak transcription	Gastric	stomach
33	chr8:38832600-38848800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr8:38832600-38853000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr8:38832800-38847600	Weak transcription	Placenta	Placenta
36	chr8:38833200-38847600	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr8:38833200-38847800	Weak transcription	Thymus	Thymus
38	chr8:38834400-38847600	Weak transcription	A549	lung
39	chr8:38835200-38847600	Weak transcription	NH-A	brain
40	chr8:38835600-38847600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr8:38835600-38847600	Weak transcription	GM12878-XiMat	blood
42	chr8:38835600-38847800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr8:38835800-38848800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:38836400-38848400	Weak transcription	Spleen	Spleen
45	chr8:38840200-38847800	Weak transcription	Left Ventricle	heart
46	chr8:38840400-38847800	Weak transcription	Fetal Lung	lung
47	chr8:38840400-38848200	Weak transcription	HSMM	muscle
48	chr8:38840600-38847600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:38840600-38848200	Weak transcription	HepG2	liver
50	chr8:38840600-38848400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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