Variant report

Variant	rs7831735
Chromosome Location	chr8:38855062-38855063
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:127)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

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	TAF1	chr8:38854877-38855261	Hela-S3	cervix:	n/a	n/a
3	MAX	chr8:38853563-38855250	K562	blood:	n/a	n/a
4	CHD1	chr8:38852795-38859264	IMR90	lung:	n/a	chr8:38854280-38854290 chr8:38854954-38854964
5	MAZ	chr8:38853610-38855274	K562	blood:	n/a	n/a
6	MXI1	chr8:38853328-38856347	IMR90	lung:	n/a	n/a
7	CTCF	chr8:38855020-38855170	GM12871	blood:	n/a	n/a
8	POLR2A	chr8:38854920-38855126	A549	lung:	n/a	n/a
9	TFAP2C	chr8:38853539-38855255	Hela-S3	cervix:	n/a	n/a
10	TBP	chr8:38853579-38855140	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD1	chr8:38854965-38855702	H1-hESC	embryonic stem cell:	n/a	n/a
12	ZBTB7A	chr8:38854509-38855266	ECC-1	luminal epithelium:	n/a	n/a
13	MAZ	chr8:38855014-38855190	Hela-S3	cervix:	n/a	n/a
14	UBTF	chr8:38853662-38855265	K562	blood:	n/a	n/a
15	TAF1	chr8:38854912-38855160	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr8:38853349-38855315	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr8:38853567-38855253	K562	blood:	n/a	n/a
18	HDAC2	chr8:38854804-38855166	K562	blood:	n/a	n/a
19	E2F6	chr8:38854903-38855119	K562	blood:	n/a	n/a
20	MXI1	chr8:38853619-38855115	HepG2	liver:	n/a	n/a
21	CTCF	chr8:38855027-38855239	K562	blood:	n/a	n/a
22	MXI1	chr8:38854907-38855894	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr8:38855060-38855210	AG10803	skin:	n/a	n/a
24	TAF1	chr8:38853594-38855209	H1-hESC	embryonic stem cell:	n/a	n/a
25	BHLHE40	chr8:38855046-38855195	K562	blood:	n/a	n/a
26	PML	chr8:38853362-38855172	GM12878	blood:	n/a	chr8:38854558-38854566
27	CTCF	chr8:38854920-38855070	GM12865	blood:	n/a	n/a
28	JUND	chr8:38853726-38855506	K562	blood:	n/a	n/a
29	CTCF	chr8:38854980-38855130	GM12878	blood:	n/a	n/a
30	POLR2A	chr8:38854257-38855215	H1-hESC	embryonic stem cell:	n/a	n/a
31	BHLHE40	chr8:38855037-38855237	GM12878	blood:	n/a	n/a
32	POLR2A	chr8:38853647-38855160	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr8:38853116-38855408	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr8:38853451-38857678	IMR90	lung:	n/a	n/a
35	POLR2A	chr8:38853581-38855115	H1-hESC	embryonic stem cell:	n/a	n/a
36	ZKSCAN1	chr8:38854988-38855122	Hela-S3	cervix:	n/a	n/a
37	CHD2	chr8:38854929-38855234	Hela-S3	cervix:	n/a	chr8:38854954-38854964
38	POLR2A	chr8:38853573-38855146	GM12878	blood:	n/a	n/a
39	YY1	chr8:38854869-38855203	K562	blood:	n/a	chr8:38855041-38855055
40	CEBPB	chr8:38855054-38855954	Hela-S3	cervix:	n/a	chr8:38855802-38855813
41	CREB1	chr8:38853562-38855077	HepG2	liver:	n/a	n/a
42	MXI1	chr8:38852478-38856247	SK-N-SH	brain:	n/a	n/a
43	UBTF	chr8:38853760-38855471	K562	blood:	n/a	n/a
44	SIN3AK20	chr8:38854915-38855270	A549	lung:	n/a	n/a
45	POLR2A	chr8:38854941-38855130	GM12878	blood:	n/a	n/a
46	MAX	chr8:38854916-38855216	K562	blood:	n/a	n/a
47	ZBTB7A	chr8:38854363-38855066	ECC-1	luminal epithelium:	n/a	n/a
48	TAF1	chr8:38853485-38855170	ECC-1	luminal epithelium:	n/a	n/a
49	CTCF	chr8:38855060-38855210	HCM	heart:	n/a	n/a
50	MAZ	chr8:38854919-38855187	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:38642891..38646001-chr8:38852513..38856801,5	K562	blood:
2	chr6:27114628..27115238-chr8:38854403..38855226,2	Hela-S3	cervix:
3	chr8:38853928..38855583-chr8:38872640..38874689,2	K562	blood:
4	chr8:38643651..38646089-chr8:38852696..38855577,2	MCF-7	breast:
5	chr3:47422545..47423057-chr8:38854498..38855225,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
TM2D2	TF binding region
ENSG00000147526	Chromatin interaction
ENSG00000076201	Chromatin interaction
ENSG00000168615	Chromatin interaction
ENSG00000184825	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs10091297	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10093975	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]
rs10095616	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10441608	0.93[CHB][hapmap];0.81[JPT][hapmap]
rs10809000	0.89[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs11784624	0.89[CHB][hapmap];0.80[CHD][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap]
rs12676405	0.80[AMR][1000 genomes]
rs28372047	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28523000	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28579045	0.92[ASN][1000 genomes]
rs28690874	0.87[ASN][1000 genomes]
rs4075849	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs4269506	0.83[MEX][hapmap]
rs4489297	0.84[ASN][1000 genomes]
rs4517088	0.86[JPT][hapmap];0.83[MEX][hapmap]
rs4615534	0.82[JPT][hapmap];0.82[MEX][hapmap]
rs4733897	0.82[CHB][hapmap]
rs4733962	0.92[CEU][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4733964	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs56018450	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6474514	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]
rs6474516	0.84[CHD][hapmap]
rs6474517	0.92[ASN][1000 genomes]
rs6474525	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs66513029	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6985572	0.84[CHD][hapmap]
rs6991383	0.89[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.81[ASN][1000 genomes]
rs6991968	0.89[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6997721	0.88[ASN][1000 genomes]
rs7001985	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs7006414	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7006535	0.81[ASN][1000 genomes]
rs7015505	0.89[CHB][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap]
rs7295	0.84[CHD][hapmap]
rs7814264	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7818363	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs7821437	0.94[CHB][hapmap];0.90[JPT][hapmap];0.85[YRI][hapmap]
rs7823125	1.00[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7826010	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7830323	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7832284	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs7832975	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7833430	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7834967	0.89[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs7836422	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7840044	0.89[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.88[ASN][1000 genomes]
rs7840270	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]
rs7842543	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7842732	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7844927	0.92[ASN][1000 genomes]
rs9650347	0.88[CHB][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap]
rs9987126	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs9987222	0.88[CEU][hapmap];0.88[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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7831735	PLEKHA2	Cis_1M	lymphoblastoid	RTeQTL
rs7831735	TM2D2	cis	parietal	SCAN
rs7831735	TM2D2	cis	cerebellum	SCAN
rs7831735	ADAM32	cis	Nerve Tibial	GTEx
rs7831735	ADAM32	cis	Adipose Subcutaneous	GTEx
rs7831735	ADAM32	cis	Artery Tibial	GTEx

Chromatin state (count:127 , 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	chr8:38853000-38855400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:38853000-38855800	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr8:38853000-38855800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:38853000-38856000	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr8:38853000-38856000	Active TSS	Fetal Intestine Small	intestine
23	chr8:38853000-38856200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:38853000-38856400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:38853000-38856400	Active TSS	HSMMtube	muscle
26	chr8:38853000-38856600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:38853000-38856600	Active TSS	Ovary	ovary
28	chr8:38853000-38856800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:38853000-38856800	Active TSS	Fetal Muscle Trunk	muscle
30	chr8:38853000-38857000	Active TSS	Placenta Amnion	Placenta Amnion
31	chr8:38853000-38857400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr8:38853000-38857600	Active TSS	HSMM	muscle
33	chr8:38853200-38855200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:38853200-38855200	Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr8:38853200-38855200	Active TSS	Pancreas	Pancrea
36	chr8:38853200-38855200	Active TSS	Spleen	Spleen
37	chr8:38853200-38855400	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr8:38853200-38855600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:38853200-38855800	Active TSS	Fetal Kidney	kidney
40	chr8:38853200-38856000	Active TSS	H1 Cell Line	embryonic stem cell
41	chr8:38853200-38856000	Active TSS	Brain Anterior Caudate	brain
42	chr8:38853200-38856000	Active TSS	Psoas Muscle	Psoas
43	chr8:38853200-38856000	Active TSS	Small Intestine	intestine
44	chr8:38853200-38856000	Bivalent/Poised TSS	HepG2	liver
45	chr8:38853200-38856200	Active TSS	K562	blood
46	chr8:38853200-38856400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:38853200-38856400	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr8:38853200-38856400	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr8:38853200-38856400	Active TSS	Fetal Intestine Large	intestine
50	chr8:38853200-38856400	Active TSS	Sigmoid Colon	Sigmoid Colon

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