Variant report

Variant	rs10093975
Chromosome Location	chr8:38855847-38855848
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	POLR2A	chr8:38855230-38856824	U87	brain:	n/a	n/a
2	MAX	chr8:38855778-38858136	A549	lung:	n/a	n/a
3	CHD1	chr8:38852795-38859264	IMR90	lung:	n/a	chr8:38854280-38854290 chr8:38854954-38854964
4	MXI1	chr8:38853328-38856347	IMR90	lung:	n/a	n/a
5	POLR2A	chr8:38855360-38857879	U87	brain:	n/a	n/a
6	SIN3AK20	chr8:38855621-38855909	PFSK-1	brain:	n/a	n/a
7	FOS	chr8:38855490-38856079	MCF10A-Er-Src	breast:	n/a	n/a
8	EP300	chr8:38855330-38856118	Hela-S3	cervix:	n/a	chr8:38855537-38855547 chr8:38855557-38855565
9	MXI1	chr8:38854907-38855894	Hela-S3	cervix:	n/a	n/a
10	REST	chr8:38855133-38855864	A549	lung:	n/a	n/a
11	POLR2A	chr8:38853451-38857678	IMR90	lung:	n/a	n/a
12	STAT3	chr8:38855656-38855856	MCF10A-Er-Src	breast:	n/a	n/a
13	CEBPB	chr8:38855054-38855954	Hela-S3	cervix:	n/a	chr8:38855802-38855813
14	TAF1	chr8:38855816-38856781	A549	lung:	n/a	n/a
15	STAT3	chr8:38855302-38855852	MCF10A-Er-Src	breast:	n/a	n/a
16	MXI1	chr8:38852478-38856247	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr8:38854756-38856987	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr8:38855591-38855887	HUVEC	blood vessel:	n/a	n/a
19	FOXA1	chr8:38855355-38855935	T-47D	breast:	n/a	n/a
20	MAZ	chr8:38853145-38855977	IMR90	lung:	n/a	n/a
21	POLR2A	chr8:38855705-38855905	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr8:38854896-38859164	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr8:38855833-38856021	MCF10A-Er-Src	breast:	n/a	n/a
24	BRCA1	chr8:38855120-38857561	Hela-S3	cervix:	n/a	n/a
25	FOXA2	chr8:38855575-38855885	HepG2	liver:	n/a	n/a
26	POLR2A	chr8:38855026-38859169	HUVEC	blood vessel:	n/a	n/a
27	TBP	chr8:38855213-38855976	Hela-S3	cervix:	n/a	n/a
28	TCF12	chr8:38853459-38859347	A549	lung:	n/a	chr8:38853682-38853690 chr8:38854813-38854820
29	POLR2A	chr8:38853548-38857906	U87	brain:	n/a	n/a
30	FOS	chr8:38855492-38855986	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr8:38854863-38857661	HUVEC	blood vessel:	n/a	n/a
32	GATA2	chr8:38855499-38856192	HUVEC	blood vessel:	n/a	chr8:38855711-38855725 chr8:38855716-38855723 chr8:38855716-38855723 chr8:38855716-38855725 chr8:38855716-38855723 chr8:38855715-38855725
33	MYC	chr8:38855473-38856006	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr8:38855347-38855866	MCF10A-Er-Src	breast:	n/a	n/a
35	CUX1	chr8:38855098-38856255	K562	blood:	n/a	n/a
36	TAF1	chr8:38855355-38855852	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:38642891..38646001-chr8:38852513..38856801,5	K562	blood:
2	chr8:38849173..38851753-chr8:38855572..38858070,2	MCF-7	breast:

Variant related genes	Relation type
TM2D2	TF binding region
ENSG00000147526	Chromatin interaction
ENSG00000169490	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10091297	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10095616	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10441608	0.87[CHB][hapmap];0.81[JPT][hapmap];0.90[YRI][hapmap]
rs10809000	0.83[CHB][hapmap];0.90[JPT][hapmap];0.91[YRI][hapmap];0.81[ASN][1000 genomes]
rs10958533	0.82[ASW][hapmap]
rs11784624	0.82[ASW][hapmap];0.83[CHB][hapmap];0.80[CHD][hapmap];0.86[JPT][hapmap];0.82[LWK][hapmap];0.83[MEX][hapmap];0.91[YRI][hapmap]
rs12676405	0.84[AMR][1000 genomes]
rs28372047	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28523000	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28579045	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs28690874	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4075849	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs4269506	0.82[ASW][hapmap];0.83[MEX][hapmap];0.91[YRI][hapmap]
rs4489297	0.84[ASN][1000 genomes]
rs4517088	0.82[ASW][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.91[YRI][hapmap]
rs4615534	0.82[ASW][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];0.91[YRI][hapmap]
rs4733962	0.83[CEU][hapmap];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4733964	0.84[CHD][hapmap]
rs56018450	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6474514	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]
rs6474516	0.84[CHD][hapmap]
rs6474517	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6474525	0.83[CHB][hapmap];0.90[JPT][hapmap];0.91[YRI][hapmap]
rs66513029	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6985572	0.84[CHD][hapmap]
rs6991383	0.82[ASW][hapmap];0.83[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.84[LWK][hapmap];0.83[MEX][hapmap];0.91[YRI][hapmap];0.81[ASN][1000 genomes]
rs6991968	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6997721	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7001985	0.85[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap]
rs7006414	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7006535	0.81[ASN][1000 genomes]
rs7015505	0.81[ASW][hapmap];0.83[CHB][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.91[YRI][hapmap]
rs7295	0.81[CHB][hapmap];0.84[CHD][hapmap]
rs7814264	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7818363	0.83[CHB][hapmap];0.90[JPT][hapmap];0.91[YRI][hapmap]
rs7821437	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs7823125	0.94[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.96[MEX][hapmap];0.88[MKK][hapmap];0.84[TSI][hapmap];0.87[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7826010	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7830323	0.83[AMR][1000 genomes]
rs7831735	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7832284	0.82[CHB][hapmap];0.85[JPT][hapmap];0.91[YRI][hapmap]
rs7832975	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7833430	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7834967	0.83[CHB][hapmap];0.90[JPT][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7836422	0.94[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];0.86[TSI][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7840044	0.81[ASW][hapmap];0.82[CEU][hapmap];0.83[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap];0.82[LWK][hapmap];0.83[MEX][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7840270	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842543	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7842732	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7844927	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9650347	0.82[ASW][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.82[LWK][hapmap];0.83[MEX][hapmap];0.91[YRI][hapmap]
rs9987126	0.87[CHB][hapmap];0.84[CHD][hapmap]
rs9987222	0.94[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.90[ASN][1000 genomes]

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs10093975	ADAM32	cis	Artery Tibial	GTEx
rs10093975	ADAM32	cis	Nerve Tibial	GTEx
rs10093975	PLEKHA2	cis	lymphoblastoid	seeQTL
rs10093975	PLEKHA2	Cis_1M	lymphoblastoid	RTeQTL
rs10093975	TM2D2	cis	cerebellum	SCAN
rs10093975	ADAM32	cis	Adipose Subcutaneous	GTEx
rs10093975	TM2D2	cis	parietal	SCAN

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38852600-38856000	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr8:38852600-38856600	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr8:38852600-38856600	Active TSS	Esophagus	oesophagus
4	chr8:38852600-38856600	Active TSS	Lung	lung
5	chr8:38852600-38856800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:38852600-38857400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:38852600-38857400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:38852600-38857600	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr8:38852600-38857600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:38852600-38857600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:38852800-38856600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:38852800-38856800	Active TSS	H9 Cell Line	embryonic stem cell
13	chr8:38852800-38857600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:38852800-38857600	Active TSS	Right Ventricle	heart
15	chr8:38852800-38857600	Active TSS	NH-A	brain
16	chr8:38852800-38857800	Active TSS	A549	lung
17	chr8:38852800-38857800	Active TSS	NHLF	lung
18	chr8:38853000-38856000	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr8:38853000-38856000	Active TSS	Fetal Intestine Small	intestine
20	chr8:38853000-38856200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:38853000-38856400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:38853000-38856400	Active TSS	HSMMtube	muscle
23	chr8:38853000-38856600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:38853000-38856600	Active TSS	Ovary	ovary
25	chr8:38853000-38856800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:38853000-38856800	Active TSS	Fetal Muscle Trunk	muscle
27	chr8:38853000-38857000	Active TSS	Placenta Amnion	Placenta Amnion
28	chr8:38853000-38857400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr8:38853000-38857600	Active TSS	HSMM	muscle
30	chr8:38853200-38856000	Active TSS	H1 Cell Line	embryonic stem cell
31	chr8:38853200-38856000	Active TSS	Brain Anterior Caudate	brain
32	chr8:38853200-38856000	Active TSS	Psoas Muscle	Psoas
33	chr8:38853200-38856000	Active TSS	Small Intestine	intestine
34	chr8:38853200-38856000	Bivalent/Poised TSS	HepG2	liver
35	chr8:38853200-38856200	Active TSS	K562	blood
36	chr8:38853200-38856400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:38853200-38856400	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr8:38853200-38856400	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr8:38853200-38856400	Active TSS	Fetal Intestine Large	intestine
40	chr8:38853200-38856400	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr8:38853200-38856400	Active TSS	GM12878-XiMat	blood
42	chr8:38853200-38856400	Active TSS	Hela-S3	cervix
43	chr8:38853200-38856600	Active TSS	Gastric	stomach
44	chr8:38853200-38856600	Active TSS	Osteobl	bone
45	chr8:38853200-38856800	Active TSS	Aorta	Aorta
46	chr8:38853200-38856800	Active TSS	Left Ventricle	heart
47	chr8:38853200-38857000	Active TSS	Duodenum Mucosa	Duodenum
48	chr8:38853200-38857000	Active TSS	Stomach Mucosa	stomach
49	chr8:38853200-38857200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:38853200-38857200	Active TSS	Muscle Satellite Cultured Cells	--

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