Variant report

Variant	rs7840270
Chromosome Location	chr8:38853983-38853984
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:401)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:401 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:38853559-38855149	GM18505	blood:	n/a	n/a
2	POLR2A	chr8:38853780-38854177	PANC-1	pancreas:	n/a	n/a
3	E2F4	chr8:38853492-38854605	MCF10A-Er-Src	breast:	n/a	chr8:38854345-38854356
4	TAL1	chr8:38853790-38854117	K562	blood:	n/a	n/a
5	EP300	chr8:38853871-38854629	K562	blood:	n/a	n/a
6	MAX	chr8:38853563-38855250	K562	blood:	n/a	n/a
7	POLR2A	chr8:38853729-38854702	K562	blood:	n/a	n/a
8	CHD1	chr8:38852795-38859264	IMR90	lung:	n/a	chr8:38854280-38854290 chr8:38854954-38854964
9	GTF2F1	chr8:38853778-38854494	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr8:38853476-38854733	MCF10A-Er-Src	breast:	n/a	n/a
11	MXI1	chr8:38853683-38854523	K562	blood:	n/a	n/a
12	TBL1XR1	chr8:38853755-38854087	K562	blood:	n/a	n/a
13	POLR2A	chr8:38853647-38854231	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr8:38853611-38854219	GM12891	blood:	n/a	n/a
15	SIN3AK20	chr8:38853542-38854089	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAZ	chr8:38853610-38855274	K562	blood:	n/a	n/a
17	TAF1	chr8:38853825-38854166	SK-N-SH	brain:	n/a	n/a
18	MXI1	chr8:38853328-38856347	IMR90	lung:	n/a	n/a
19	CREB1	chr8:38853729-38854680	K562	blood:	n/a	n/a
20	MAX	chr8:38853724-38854774	H1-hESC	embryonic stem cell:	n/a	n/a
21	TFAP2C	chr8:38853539-38855255	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr8:38853519-38854755	SK-N-SH	brain:	n/a	n/a
23	MAX	chr8:38853785-38854694	MCF-7	breast:	n/a	n/a
24	EBF1	chr8:38853735-38854144	GM12878	blood:	n/a	n/a
25	PAX5	chr8:38853760-38854314	GM12878	blood:	n/a	n/a
26	ZEB1	chr8:38853694-38854092	GM12878	blood:	n/a	n/a
27	ATF1	chr8:38853865-38854559	K562	blood:	n/a	n/a
28	TCF3	chr8:38853777-38854036	GM12878	blood:	n/a	n/a
29	POLR2A	chr8:38853769-38854181	PANC-1	pancreas:	n/a	n/a
30	TBP	chr8:38853579-38855140	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr8:38853924-38854707	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr8:38853656-38854821	NB4	blood:	n/a	n/a
33	CEBPD	chr8:38853760-38854212	HepG2	liver:	n/a	n/a
34	WRNIP1	chr8:38853837-38854006	GM12878	blood:	n/a	n/a
35	CHD2	chr8:38853657-38854634	Hela-S3	cervix:	n/a	chr8:38854280-38854290
36	TAF1	chr8:38853493-38854848	H1-neurons	neurons:	n/a	n/a
37	RFX5	chr8:38853842-38854213	H1-hESC	embryonic stem cell:	n/a	n/a
38	GTF2F1	chr8:38853712-38854749	H1-hESC	embryonic stem cell:	n/a	n/a
39	NRF1	chr8:38853884-38854531	GM12878	blood:	n/a	n/a
40	ARID3A	chr8:38853963-38854684	HepG2	liver:	n/a	n/a
41	GABPA	chr8:38853533-38854172	K562	blood:	n/a	n/a
42	TAF1	chr8:38853605-38854134	GM12891	blood:	n/a	n/a
43	RCOR1	chr8:38853744-38854607	GM12878	blood:	n/a	n/a
44	POLR2A	chr8:38853250-38854843	HUVEC	blood vessel:	n/a	n/a
45	UBTF	chr8:38853662-38855265	K562	blood:	n/a	n/a
46	YY1	chr8:38853484-38854110	A549	lung:	n/a	chr8:38853763-38853775
47	POLR2A	chr8:38853349-38855315	H1-neurons	neurons:	n/a	n/a
48	EGR1	chr8:38853866-38854559	K562	blood:	n/a	n/a
49	POLR2A	chr8:38853567-38855253	K562	blood:	n/a	n/a
50	ATF2	chr8:38853851-38854657	H1-hESC	embryonic stem cell:	n/a	chr8:38854424-38854435

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:38853964-38854014	T-47D	breast:	n/a
2	chr8:38853964-38854014	HepG2	liver:	n/a
3	chr8:38853964-38854014	MCF-7	breast:	n/a
4	chr8:38853964-38854014	SK-N-SH_RA	brain:	n/a
5	chr8:38853964-38854014	IMR90	lung:	fetal
6	chr8:38853964-38854014	LNCaP	prostate:	n/a
7	chr8:38853964-38854014	H1-hESC	embryonic stem cell:	embryo
8	chr8:38853964-38854014	AG04449	skin:	fetal
9	chr8:38853964-38854014	GM12878	blood:	n/a
10	chr8:38853964-38854014	GM12892	blood:	n/a
11	chr8:38853964-38854014	HPAEpiC	pulmonary alveolar:	n/a
12	chr8:38853964-38854014	RPTEC	kidney:	n/a
13	chr8:38853964-38854014	BE2_C	brain:	n/a
14	chr8:38853964-38854014	HIPEpiC	eye:	n/a
15	chr8:38853964-38854014	HMEC	breast:	n/a
16	chr8:38853964-38854014	NB4	blood:	n/a
17	chr8:38853964-38854014	GM12891	blood:	n/a
18	chr8:38853964-38854014	HNPCEpiC	eye:	n/a
19	chr8:38853964-38854014	Caco-2	colon:	n/a
20	chr8:38853964-38854014	PrEC	prostate:	n/a
21	chr8:38853964-38854014	PFSK-1	brain:	n/a
22	chr8:38853964-38854014	Hela-S3	cervix:	n/a
23	chr8:38853964-38854014	NHBE	bronchial:	n/a
24	chr8:38853964-38854014	ECC-1	luminal epithelium:	n/a
25	chr8:38853964-38854014	NH-A	brain:	n/a
26	chr8:38853964-38854014	HRE	kidney:	n/a
27	chr8:38853964-38854014	SK-N-MC	brain:	n/a
28	chr8:38853964-38854014	HAEpiC	amniotic membrane:	n/a
29	chr8:38853964-38854014	GM06990	blood:	n/a
30	chr8:38853964-38854014	ovcar-3	ovarian:	n/a
31	chr8:38853964-38854014	SK-N-SH	brain:	n/a
32	chr8:38853964-38854014	MCF10A-Er-Src	breast:	n/a
33	chr8:38853964-38854014	AG09309	skin:	n/a
34	chr8:38853964-38854014	GM19239	blood:	n/a
35	chr8:38853964-38854014	HEK293	kidney:	embryo
36	chr8:38853964-38854014	HEEpiC	esophagus:	n/a
37	chr8:38853964-38854014	AG09319	gingival:	n/a
38	chr8:38853964-38854014	HRCEpiC	kidney:	n/a
39	chr8:38853964-38854014	K562	blood:	n/a
40	chr8:38853964-38854014	AG10803	skin:	n/a
41	chr8:38853964-38854014	SKMC	muscle:	n/a
42	chr8:38853964-38854014	HUVEC	blood vessel:	n/a
43	chr8:38853964-38854014	AG04450	lung:	fetal
44	chr8:38853964-38854014	HRPEpiC	eye:	n/a
45	chr8:38853964-38854014	HCT-116	colon:	n/a
46	chr8:38853964-38854014	ProgFib	skin:	n/a
47	chr8:38853964-38854014	BJ	skin:	n/a
48	chr8:38853964-38854014	Hepatocyte	liver:	n/a
49	chr8:38853964-38854014	HCF	heart:	n/a
50	chr8:38853964-38854014	U87	brain:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:38642891..38646001-chr8:38852513..38856801,5	K562	blood:
2	chr8:38853928..38855583-chr8:38872640..38874689,2	K562	blood:
3	chr8:38643651..38646089-chr8:38852696..38855577,2	MCF-7	breast:

No data

Variant related genes	Relation type
ADAM9	TF binding region
TM2D2	TF binding region
ADAM9	CpG island
TM2D2	CpG island
ENSG00000147526	Chromatin interaction
ENSG00000168615	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10091297	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10093975	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]
rs10095616	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10441608	0.81[JPT][hapmap]
rs10809000	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs11784624	0.86[JPT][hapmap];0.86[MEX][hapmap]
rs12676405	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28372047	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28523000	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28579045	0.92[ASN][1000 genomes]
rs28690874	0.87[ASN][1000 genomes]
rs4075849	0.86[JPT][hapmap]
rs4269506	0.86[MEX][hapmap]
rs4489297	0.84[ASN][1000 genomes]
rs4517088	0.86[JPT][hapmap];0.86[MEX][hapmap]
rs4615534	0.82[JPT][hapmap];0.86[MEX][hapmap]
rs4733962	0.83[CEU][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4733964	0.81[CHD][hapmap]
rs56018450	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6474514	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]
rs6474516	0.81[CHD][hapmap]
rs6474517	0.92[ASN][1000 genomes]
rs6474525	0.90[JPT][hapmap]
rs66513029	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6985572	0.81[CHD][hapmap]
rs6991383	0.81[CHD][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.81[ASN][1000 genomes]
rs6991968	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6997721	0.88[ASN][1000 genomes]
rs7001985	0.85[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap]
rs7006414	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7006535	0.81[ASN][1000 genomes]
rs7015505	0.81[CHD][hapmap];0.81[JPT][hapmap];0.86[MEX][hapmap]
rs7295	0.81[CHD][hapmap]
rs7814264	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7818363	0.90[JPT][hapmap]
rs7821437	0.82[CHB][hapmap];0.90[JPT][hapmap];0.85[YRI][hapmap]
rs7823125	0.89[CEU][hapmap];0.88[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7826010	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7830323	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7831735	0.92[ASW][hapmap];0.89[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7832284	0.85[JPT][hapmap]
rs7832975	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7833430	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7834967	0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs7836422	0.92[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7840044	0.82[CEU][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.88[ASN][1000 genomes]
rs7842543	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7842732	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7844927	0.92[ASN][1000 genomes]
rs9650347	0.90[JPT][hapmap];0.86[MEX][hapmap]
rs9987126	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs9987222	0.88[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap];0.86[MEX][hapmap];0.90[ASN][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7840270	PLEKHA2	Cis_1M	lymphoblastoid	RTeQTL
rs7840270	ADAM32	cis	Adipose Subcutaneous	GTEx
rs7840270	TM2D2	cis	cerebellum	SCAN
rs7840270	ADAM32	cis	Nerve Tibial	GTEx
rs7840270	TM2D2	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38852600-38854000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr8:38852600-38854800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:38852600-38856000	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr8:38852600-38856600	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr8:38852600-38856600	Active TSS	Esophagus	oesophagus
6	chr8:38852600-38856600	Active TSS	Lung	lung
7	chr8:38852600-38856800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:38852600-38857400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:38852600-38857400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:38852600-38857600	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr8:38852600-38857600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:38852600-38857600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:38852800-38854000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr8:38852800-38856600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:38852800-38856800	Active TSS	H9 Cell Line	embryonic stem cell
16	chr8:38852800-38857600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:38852800-38857600	Active TSS	Right Ventricle	heart
18	chr8:38852800-38857600	Active TSS	NH-A	brain
19	chr8:38852800-38857800	Active TSS	A549	lung
20	chr8:38852800-38857800	Active TSS	NHLF	lung
21	chr8:38853000-38854000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:38853000-38855400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:38853000-38855800	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr8:38853000-38855800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:38853000-38856000	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr8:38853000-38856000	Active TSS	Fetal Intestine Small	intestine
27	chr8:38853000-38856200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:38853000-38856400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:38853000-38856400	Active TSS	HSMMtube	muscle
30	chr8:38853000-38856600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:38853000-38856600	Active TSS	Ovary	ovary
32	chr8:38853000-38856800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:38853000-38856800	Active TSS	Fetal Muscle Trunk	muscle
34	chr8:38853000-38857000	Active TSS	Placenta Amnion	Placenta Amnion
35	chr8:38853000-38857400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr8:38853000-38857600	Active TSS	HSMM	muscle
37	chr8:38853200-38854000	ZNF genes & repeats	Fetal Brain Male	brain
38	chr8:38853200-38854600	Active TSS	Primary T cells fromperipheralblood	blood
39	chr8:38853200-38854600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:38853200-38854600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:38853200-38854600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:38853200-38854600	Active TSS	Fetal Thymus	thymus
43	chr8:38853200-38854600	Active TSS	Thymus	Thymus
44	chr8:38853200-38855000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr8:38853200-38855200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:38853200-38855200	Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr8:38853200-38855200	Active TSS	Pancreas	Pancrea
48	chr8:38853200-38855200	Active TSS	Spleen	Spleen
49	chr8:38853200-38855400	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr8:38853200-38855600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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