Variant report

Variant	rs6991968
Chromosome Location	chr8:38853620-38853621
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:166)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:166 , 50 per page) page: 1 2 3 4

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	CTCF	chr8:38853500-38853650	NHDF-neo	bronchial:	n/a	n/a
3	E2F4	chr8:38853492-38854605	MCF10A-Er-Src	breast:	n/a	chr8:38854345-38854356
4	MAX	chr8:38853563-38855250	K562	blood:	n/a	n/a
5	CHD1	chr8:38852795-38859264	IMR90	lung:	n/a	chr8:38854280-38854290 chr8:38854954-38854964
6	POLR2A	chr8:38853476-38854733	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr8:38853611-38854219	GM12891	blood:	n/a	n/a
8	SIN3AK20	chr8:38853542-38854089	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAZ	chr8:38853610-38855274	K562	blood:	n/a	n/a
10	MXI1	chr8:38853328-38856347	IMR90	lung:	n/a	n/a
11	TFAP2C	chr8:38853539-38855255	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr8:38853519-38854755	SK-N-SH	brain:	n/a	n/a
13	TBP	chr8:38853579-38855140	H1-hESC	embryonic stem cell:	n/a	n/a
14	ZBTB7A	chr8:38853559-38853905	K562	blood:	n/a	n/a
15	TAF1	chr8:38853493-38854848	H1-neurons	neurons:	n/a	n/a
16	CTCF	chr8:38853600-38853750	BJ	skin:	n/a	n/a
17	GABPA	chr8:38853533-38854172	K562	blood:	n/a	n/a
18	TAF1	chr8:38853605-38854134	GM12891	blood:	n/a	n/a
19	POLR2A	chr8:38853250-38854843	HUVEC	blood vessel:	n/a	n/a
20	YY1	chr8:38853484-38854110	A549	lung:	n/a	chr8:38853763-38853775
21	POLR2A	chr8:38853349-38855315	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr8:38853567-38855253	K562	blood:	n/a	n/a
23	POLR2A	chr8:38853611-38854954	ProgFib	skin:	n/a	n/a
24	TAF1	chr8:38853573-38855043	HepG2	liver:	n/a	n/a
25	MXI1	chr8:38853619-38855115	HepG2	liver:	n/a	n/a
26	TAF1	chr8:38853256-38854852	H1-neurons	neurons:	n/a	n/a
27	POLR2A	chr8:38853446-38854189	GM12892	blood:	n/a	n/a
28	RELA	chr8:38853507-38854620	GM18951	blood:	n/a	n/a
29	MAX	chr8:38853618-38854656	H1-hESC	embryonic stem cell:	n/a	n/a
30	CREB1	chr8:38853592-38854745	K562	blood:	n/a	n/a
31	MTA3	chr8:38853422-38854188	GM12878	blood:	n/a	n/a
32	FOXM1	chr8:38853498-38854128	GM12878	blood:	n/a	n/a
33	POLR2A	chr8:38853552-38854253	GM12891	blood:	n/a	n/a
34	TAF1	chr8:38853594-38855209	H1-hESC	embryonic stem cell:	n/a	n/a
35	PML	chr8:38853362-38855172	GM12878	blood:	n/a	chr8:38854558-38854566
36	NRF1	chr8:38853408-38854787	SK-N-SH	brain:	n/a	n/a
37	YY1	chr8:38853569-38854177	SK-N-SH	brain:	n/a	chr8:38853763-38853775
38	TBP	chr8:38853462-38854694	K562	blood:	n/a	n/a
39	POLR2A	chr8:38853475-38854734	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr8:38853620-38853770	AG09309	skin:	n/a	n/a
41	POLR2A	chr8:38853554-38854882	U87	brain:	n/a	n/a
42	TAF1	chr8:38853514-38854224	GM12878	blood:	n/a	n/a
43	POLR2A	chr8:38853116-38855408	H1-hESC	embryonic stem cell:	n/a	n/a
44	SP1	chr8:38853475-38854750	A549	lung:	n/a	chr8:38854154-38854165 chr8:38854278-38854290 chr8:38853622-38853631 chr8:38854280-38854289 chr8:38854278-38854290 chr8:38854144-38854153 chr8:38854279-38854288 chr8:38854280-38854289 chr8:38854076-38854097 chr8:38854142-38854154
45	POLR2A	chr8:38853451-38857678	IMR90	lung:	n/a	n/a
46	POLR2A	chr8:38853489-38855005	PFSK-1	brain:	n/a	n/a
47	POLR2A	chr8:38853581-38855115	H1-hESC	embryonic stem cell:	n/a	n/a
48	BHLHE40	chr8:38853507-38854649	K562	blood:	n/a	chr8:38854269-38854285
49	YY1	chr8:38853518-38854118	SK-N-SH_RA	brain:	n/a	chr8:38853763-38853775
50	GABPA	chr8:38853568-38854020	A549	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:38853571-38853621	SK-N-SH_RA	brain:	n/a
2	chr8:38853571-38853621	NT2-D1	testis:	n/a
3	chr8:38853571-38853621	HEK293	kidney:	embryo
4	chr8:38853571-38853621	IMR90	lung:	fetal
5	chr8:38853571-38853621	Caco-2	colon:	n/a
6	chr8:38853571-38853621	HAEpiC	amniotic membrane:	n/a
7	chr8:38853571-38853621	BJ	skin:	n/a
8	chr8:38853571-38853621	NHDF-neo	bronchial:	n/a
9	chr8:38853571-38853621	SKMC	muscle:	n/a
10	chr8:38853571-38853621	LNCaP	prostate:	n/a
11	chr8:38853571-38853621	K562	blood:	n/a
12	chr8:38853571-38853621	HepG2	liver:	n/a
13	chr8:38853571-38853621	SK-N-SH	brain:	n/a
14	chr8:38853571-38853621	HUVEC	blood vessel:	n/a
15	chr8:38853571-38853621	U87	brain:	n/a
16	chr8:38853571-38853621	HCPEpiC	choroid plexus:	n/a
17	chr8:38853571-38853621	HRE	kidney:	n/a
18	chr8:38853571-38853621	Jurkat	blood:	n/a
19	chr8:38853571-38853621	AG10803	skin:	n/a
20	chr8:38853571-38853621	HIPEpiC	eye:	n/a
21	chr8:38853571-38853621	ProgFib	skin:	n/a
22	chr8:38853571-38853621	AoSMC	blood vessel:	n/a
23	chr8:38853571-38853621	AG04450	lung:	fetal
24	chr8:38853571-38853621	CMK	blood:	n/a
25	chr8:38853571-38853621	NHBE	bronchial:	n/a
26	chr8:38853571-38853621	GM12878	blood:	n/a
27	chr8:38853571-38853621	HRCEpiC	kidney:	n/a
28	chr8:38853571-38853621	PFSK-1	brain:	n/a
29	chr8:38853571-38853621	GM06990	blood:	n/a
30	chr8:38853571-38853621	HCT-116	colon:	n/a
31	chr8:38853571-38853621	BE2_C	brain:	n/a
32	chr8:38853571-38853621	HCM	heart:	n/a
33	chr8:38853571-38853621	T-47D	breast:	n/a
34	chr8:38853571-38853621	H1-hESC	embryonic stem cell:	embryo
35	chr8:38853571-38853621	A549	lung:	n/a
36	chr8:38853571-38853621	ovcar-3	ovarian:	n/a
37	chr8:38853571-38853621	Hepatocyte	liver:	n/a
38	chr8:38853571-38853621	HMEC	breast:	n/a
39	chr8:38853571-38853621	HPAEpiC	pulmonary alveolar:	n/a
40	chr8:38853571-38853621	HNPCEpiC	eye:	n/a
41	chr8:38853571-38853621	SK-N-MC	brain:	n/a
42	chr8:38853571-38853621	GM12891	blood:	n/a
43	chr8:38853571-38853621	HCF	heart:	n/a
44	chr8:38853571-38853621	ECC-1	luminal epithelium:	n/a
45	chr8:38853571-38853621	AG09319	gingival:	n/a
46	chr8:38853571-38853621	HL-60	blood:	n/a
47	chr8:38853571-38853621	Hela-S3	cervix:	n/a
48	chr8:38853571-38853621	AG04449	skin:	fetal
49	chr8:38853571-38853621	RPTEC	kidney:	n/a
50	chr8:38853571-38853621	GM12892	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:38642891..38646001-chr8:38852513..38856801,5	K562	blood:
2	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
TM2D2	CpG island
ADAM9	CpG island
ENSG00000147526	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10091297	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10093975	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]
rs10095616	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10441608	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs10809000	0.83[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs11784624	0.83[CHB][hapmap];0.81[CHD][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap]
rs12676405	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28372047	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28523000	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28579045	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28690874	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4075849	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs4269506	0.83[MEX][hapmap]
rs4489297	0.83[ASN][1000 genomes]
rs4517088	0.86[JPT][hapmap];0.83[MEX][hapmap]
rs4615534	0.82[JPT][hapmap];0.82[MEX][hapmap]
rs4733962	0.83[CEU][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56018450	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6474514	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]
rs6474517	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6474525	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs66513029	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6991383	0.83[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.82[ASN][1000 genomes]
rs6997721	0.88[ASN][1000 genomes]
rs7001985	0.85[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap]
rs7006414	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7006535	0.82[ASN][1000 genomes]
rs7015505	0.83[CHB][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap]
rs7295	0.81[CHB][hapmap]
rs7814264	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7818363	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs7821437	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs7823125	0.89[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.90[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7826010	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7830323	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7831735	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]
rs7832284	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs7832975	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7833430	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7834967	0.83[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7835604	0.81[ASN][1000 genomes]
rs7836422	0.92[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7840044	0.82[CEU][hapmap];0.83[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.89[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];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7842543	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7842732	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7844927	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9650347	0.83[CHB][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap]
rs9987126	0.87[CHB][hapmap]
rs9987222	0.94[CHB][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.89[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6991968	ADAM32	cis	Artery Tibial	GTEx
rs6991968	ADAM32	cis	Adipose Subcutaneous	GTEx
rs6991968	ADAM32	cis	Nerve Tibial	GTEx
rs6991968	PLEKHA2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38852200-38853800	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr8:38852600-38854000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr8:38852600-38854800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:38852600-38856000	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr8:38852600-38856600	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr8:38852600-38856600	Active TSS	Esophagus	oesophagus
7	chr8:38852600-38856600	Active TSS	Lung	lung
8	chr8:38852600-38856800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:38852600-38857400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:38852600-38857400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:38852600-38857600	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr8:38852600-38857600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:38852600-38857600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:38852800-38853800	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr8:38852800-38854000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr8:38852800-38856600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:38852800-38856800	Active TSS	H9 Cell Line	embryonic stem cell
18	chr8:38852800-38857600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:38852800-38857600	Active TSS	Right Ventricle	heart
20	chr8:38852800-38857600	Active TSS	NH-A	brain
21	chr8:38852800-38857800	Active TSS	A549	lung
22	chr8:38852800-38857800	Active TSS	NHLF	lung
23	chr8:38853000-38853800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr8:38853000-38854000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr8:38853000-38855400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:38853000-38855800	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr8:38853000-38855800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:38853000-38856000	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr8:38853000-38856000	Active TSS	Fetal Intestine Small	intestine
30	chr8:38853000-38856200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:38853000-38856400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:38853000-38856400	Active TSS	HSMMtube	muscle
33	chr8:38853000-38856600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:38853000-38856600	Active TSS	Ovary	ovary
35	chr8:38853000-38856800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:38853000-38856800	Active TSS	Fetal Muscle Trunk	muscle
37	chr8:38853000-38857000	Active TSS	Placenta Amnion	Placenta Amnion
38	chr8:38853000-38857400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr8:38853000-38857600	Active TSS	HSMM	muscle
40	chr8:38853200-38854000	ZNF genes & repeats	Fetal Brain Male	brain
41	chr8:38853200-38854600	Active TSS	Primary T cells fromperipheralblood	blood
42	chr8:38853200-38854600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:38853200-38854600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:38853200-38854600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:38853200-38854600	Active TSS	Fetal Thymus	thymus
46	chr8:38853200-38854600	Active TSS	Thymus	Thymus
47	chr8:38853200-38855000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr8:38853200-38855200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:38853200-38855200	Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr8:38853200-38855200	Active TSS	Pancreas	Pancrea

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