Variant report

Variant	rs6474514
Chromosome Location	chr8:38835269-38835270
allele	C/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	MAFK	chr8:38834823-38835308	H1-hESC	embryonic stem cell:	n/a	chr8:38835004-38835019
2	BHLHE40	chr8:38834982-38835579	GM12878	blood:	n/a	chr8:38835460-38835469
3	MAFK	chr8:38834695-38835322	GM12878	blood:	n/a	chr8:38835004-38835019

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:38689791..38691983-chr8:38833583..38835548,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253645	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10091297	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10093975	0.81[ASW][hapmap];0.81[CHB][hapmap];0.94[GIH][hapmap];0.83[LWK][hapmap];0.87[MEX][hapmap];0.93[MKK][hapmap];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10095616	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10441608	0.80[CHB][hapmap]
rs28372047	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28523000	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4733962	0.92[CEU][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66513029	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6991968	0.81[CHB][hapmap];0.94[GIH][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7001985	0.81[CEU][hapmap];0.86[CHB][hapmap];0.83[YRI][hapmap]
rs7006414	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7814264	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7823125	0.88[ASW][hapmap];0.85[CEU][hapmap];0.87[CHB][hapmap];0.80[CHD][hapmap];0.94[GIH][hapmap];0.80[LWK][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7831735	0.85[CEU][hapmap];0.94[GIH][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7832975	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7833430	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7836422	0.88[ASW][hapmap];0.81[CEU][hapmap];0.94[GIH][hapmap];0.83[LWK][hapmap];0.88[MKK][hapmap];0.88[TSI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7840270	0.94[GIH][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7842543	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7842732	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9987222	0.89[CEU][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs6474514	HTRA4	cis	multi-tissue	Pritchard
rs6474514	TM2D2	cis	cerebellum	SCAN
rs6474514	ADAM32	cis	Nerve Tibial	GTEx
rs6474514	TM2D2	cis	multi-tissue	Pritchard
rs6474514	ADAM32	cis	Adipose Subcutaneous	GTEx
rs6474514	TM2D2	cis	parietal	SCAN
rs6474514	ADAM32	cis	Artery Tibial	GTEx

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38824000-38846400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:38824200-38847800	Weak transcription	Brain Substantia Nigra	brain
3	chr8:38824200-38848400	Weak transcription	Brain Angular Gyrus	brain
4	chr8:38824200-38848800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr8:38827800-38847600	Weak transcription	Small Intestine	intestine
6	chr8:38828000-38837000	Weak transcription	HSMM	muscle
7	chr8:38828000-38847600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:38828000-38848000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr8:38828400-38848200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:38828800-38839400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:38828800-38848400	Weak transcription	HSMMtube	muscle
12	chr8:38829000-38838800	Weak transcription	Left Ventricle	heart
13	chr8:38829000-38847600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:38829000-38847600	Weak transcription	Hela-S3	cervix
15	chr8:38829000-38847800	Weak transcription	Aorta	Aorta
16	chr8:38829000-38847800	Weak transcription	Brain Hippocampus Middle	brain
17	chr8:38829000-38848400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:38830000-38847800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr8:38831400-38839600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:38831600-38848200	Weak transcription	Colon Smooth Muscle	Colon
21	chr8:38831800-38839800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr8:38831800-38847800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr8:38831800-38848400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr8:38832000-38847800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr8:38832000-38848000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr8:38832000-38848200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr8:38832000-38848600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr8:38832200-38847800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr8:38832200-38848400	Weak transcription	Ovary	ovary
30	chr8:38832400-38839800	Weak transcription	Fetal Heart	heart
31	chr8:38832400-38845800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr8:38832400-38846600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr8:38832400-38846800	Weak transcription	Lung	lung
34	chr8:38832400-38847800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:38832400-38847800	Weak transcription	Brain Anterior Caudate	brain
36	chr8:38832400-38847800	Weak transcription	HMEC	breast
37	chr8:38832400-38848000	Weak transcription	Adipose Nuclei	Adipose
38	chr8:38832400-38848400	Weak transcription	Right Ventricle	heart
39	chr8:38832400-38848800	Weak transcription	Pancreas	Pancrea
40	chr8:38832600-38844200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:38832600-38846400	Weak transcription	Dnd41	blood
42	chr8:38832600-38847600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr8:38832600-38848600	Weak transcription	Esophagus	oesophagus
44	chr8:38832600-38848800	Weak transcription	Gastric	stomach
45	chr8:38832600-38848800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr8:38832600-38853000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr8:38832800-38835400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:38832800-38836000	Strong transcription	Primary B cells from cord blood	blood
49	chr8:38832800-38839600	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr8:38832800-38846600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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