Variant report

Variant	rs72682834
Chromosome Location	chr8:107670768-107670769
allele	A/G
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	chr8:107669981-107670788	ECC-1	luminal epithelium:	n/a	n/a
2	TEAD4	chr8:107670483-107671116	K562	blood:	n/a	n/a
3	RFX5	chr8:107670738-107671080	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:107670504-107670809	GM12892	blood:	n/a	n/a
5	POLR2A	chr8:107670559-107670854	K562	blood:	n/a	n/a
6	POLR2A	chr8:107670730-107670849	GM12878	blood:	n/a	n/a
7	POLR2A	chr8:107670537-107670781	A549	lung:	n/a	n/a
8	MXI1	chr8:107670594-107671256	GM12878	blood:	n/a	n/a
9	IRF1	chr8:107670589-107671068	K562	blood:	n/a	chr8:107670803-107670817 chr8:107670851-107670860 chr8:107670803-107670816 chr8:107670997-107671006
10	EP300	chr8:107669491-107670905	ECC-1	luminal epithelium:	n/a	chr8:107670556-107670565 chr8:107669556-107669565 chr8:107669549-107669563 chr8:107669555-107669569
11	MYC	chr8:107670581-107671033	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr8:107669387-107671001	MCF-7	breast:	n/a	n/a
13	EP300	chr8:107670578-107671194	GM12878	blood:	n/a	chr8:107671006-107671016 chr8:107670996-107671010
14	MTA3	chr8:107669280-107671306	GM12878	blood:	n/a	n/a
15	POLR2A	chr8:107670464-107670873	HCT-116	colon:	n/a	n/a
16	MAX	chr8:107669586-107670814	H1-hESC	embryonic stem cell:	n/a	chr8:107670065-107670075
17	MAX	chr8:107669606-107671144	K562	blood:	n/a	chr8:107670065-107670075
18	SIN3AK20	chr8:107670077-107670790	PANC-1	pancreas:	n/a	n/a
19	YY1	chr8:107670568-107670802	K562	blood:	n/a	n/a
20	SPI1	chr8:107670572-107671531	GM12878	blood:	n/a	chr8:107671000-107671009 chr8:107670996-107671005
21	NFIC	chr8:107670572-107671252	GM12878	blood:	n/a	n/a
22	POLR2A	chr8:107670447-107670838	Hela-S3	cervix:	n/a	n/a
23	NFIC	chr8:107670510-107671304	GM12878	blood:	n/a	n/a
24	CBX3	chr8:107670518-107670948	K562	blood:	n/a	n/a
25	ELF1	chr8:107670515-107670804	A549	lung:	n/a	chr8:107670626-107670639 chr8:107670640-107670653
26	CHD1	chr8:107669064-107671535	IMR90	lung:	n/a	chr8:107669794-107669804
27	TAF1	chr8:107669514-107670818	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr8:107669521-107671199	GM12878	blood:	n/a	chr8:107670065-107670075
29	MXI1	chr8:107670682-107670985	K562	blood:	n/a	n/a
30	SPI1	chr8:107670423-107671326	HL-60	blood:	n/a	chr8:107671000-107671009 chr8:107670996-107671005
31	CREB1	chr8:107670506-107671305	GM12878	blood:	n/a	n/a
32	MAX	chr8:107669546-107670872	HepG2	liver:	n/a	chr8:107670065-107670075
33	MAX	chr8:107669378-107671172	NB4	blood:	n/a	chr8:107670065-107670075
34	ATF2	chr8:107670521-107671235	GM12878	blood:	n/a	n/a
35	POLR2A	chr8:107669508-107671420	GM18505	blood:	n/a	n/a
36	POLR2A	chr8:107669509-107671155	GM19099	blood:	n/a	n/a
37	POLR2A	chr8:107669496-107670987	GM15510	blood:	n/a	n/a
38	POLR2A	chr8:107669413-107671017	Hela-S3	cervix:	n/a	n/a
39	ELF1	chr8:107670421-107670793	HepG2	liver:	n/a	chr8:107670626-107670639 chr8:107670640-107670653
40	HEY1	chr8:107670479-107670849	K562	blood:	n/a	chr8:107670504-107670519 chr8:107670553-107670568
41	SIN3A	chr8:107669288-107670885	H1-hESC	embryonic stem cell:	n/a	chr8:107669804-107669815 chr8:107669816-107669829 chr8:107669804-107669817
42	UBTF	chr8:107670506-107670854	K562	blood:	n/a	n/a
43	MYC	chr8:107670365-107670787	MCF-7	breast:	n/a	n/a
44	MAX	chr8:107669538-107671216	ECC-1	luminal epithelium:	n/a	chr8:107670065-107670075
45	ELF1	chr8:107670738-107671154	GM12878	blood:	n/a	n/a
46	E2F1	chr8:107669630-107670789	Hela-S3	cervix:	n/a	n/a
47	IRF4	chr8:107670468-107671261	GM12878	blood:	n/a	chr8:107670802-107670816
48	EGR1	chr8:107669527-107670888	MCF-7	breast:	n/a	chr8:107670469-107670479 chr8:107670065-107670079
49	POLR2A	chr8:107670534-107670871	GM12892	blood:	n/a	n/a
50	MAX	chr8:107669567-107671327	Hela-S3	cervix:	n/a	chr8:107670065-107670075

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:107670759-107670809	PFSK-1	brain:	n/a
2	chr8:107670759-107670809	HCM	heart:	n/a
3	chr8:107670759-107670809	HCT-116	colon:	n/a
4	chr8:107670759-107670809	AG04449	skin:	fetal
5	chr8:107670759-107670809	PANC-1	pancreas:	n/a
6	chr8:107670759-107670809	BE2_C	brain:	n/a
7	chr8:107670759-107670809	AG10803	skin:	n/a
8	chr8:107670759-107670809	U87	brain:	n/a
9	chr8:107670759-107670809	AG09309	skin:	n/a
10	chr8:107670759-107670809	GM12878	blood:	n/a
11	chr8:107670759-107670809	SAEC	small airway:	n/a
12	chr8:107670759-107670809	T-47D	breast:	n/a
13	chr8:107670759-107670809	HRCEpiC	kidney:	n/a
14	chr8:107670759-107670809	CMK	blood:	n/a
15	chr8:107670759-107670809	NHDF-neo	bronchial:	n/a
16	chr8:107670759-107670809	AoSMC	blood vessel:	n/a
17	chr8:107670759-107670809	HCPEpiC	choroid plexus:	n/a
18	chr8:107670759-107670809	HUVEC	blood vessel:	n/a
19	chr8:107670759-107670809	HMEC	breast:	n/a
20	chr8:107670759-107670809	K562	blood:	n/a
21	chr8:107670759-107670809	SK-N-MC	brain:	n/a
22	chr8:107670759-107670809	HRPEpiC	eye:	n/a
23	chr8:107670759-107670809	MCF10A-Er-Src	breast:	n/a
24	chr8:107670759-107670809	HPAEpiC	pulmonary alveolar:	n/a
25	chr8:107670759-107670809	Hela-S3	cervix:	n/a
26	chr8:107670759-107670809	MCF-7	breast:	n/a
27	chr8:107670759-107670809	NH-A	brain:	n/a
28	chr8:107670759-107670809	LNCaP	prostate:	n/a
29	chr8:107670759-107670809	GM06990	blood:	n/a
30	chr8:107670759-107670809	ProgFib	skin:	n/a
31	chr8:107670759-107670809	RPTEC	kidney:	n/a
32	chr8:107670759-107670809	SKMC	muscle:	n/a
33	chr8:107670759-107670809	ECC-1	luminal epithelium:	n/a
34	chr8:107670759-107670809	HNPCEpiC	eye:	n/a
35	chr8:107670759-107670809	HEK293	kidney:	embryo
36	chr8:107670759-107670809	AG04450	lung:	fetal
37	chr8:107670759-107670809	SK-N-SH	brain:	n/a
38	chr8:107670759-107670809	AG09319	gingival:	n/a
39	chr8:107670759-107670809	HL-60	blood:	n/a
40	chr8:107670759-107670809	Caco-2	colon:	n/a
41	chr8:107670759-107670809	GM12892	blood:	n/a
42	chr8:107670759-107670809	NB4	blood:	n/a
43	chr8:107670759-107670809	HCF	heart:	n/a
44	chr8:107670759-107670809	BJ	skin:	n/a
45	chr8:107670759-107670809	SK-N-SH_RA	brain:	n/a
46	chr8:107670759-107670809	NHBE	bronchial:	n/a
47	chr8:107670759-107670809	HIPEpiC	eye:	n/a
48	chr8:107670759-107670809	PrEC	prostate:	n/a
49	chr8:107670759-107670809	NT2-D1	testis:	n/a
50	chr8:107670759-107670809	GM19239	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:107628700..107633249-chr8:107668680..107671616,7	MCF-7	breast:
2	chr8:107628207..107632288-chr8:107667853..107671892,6	MCF-7	breast:
3	chr7:56119419..56122353-chr8:107669214..107670843,2	MCF-7	breast:
4	chr8:107670007..107671645-chr8:107694032..107695827,2	K562	blood:
5	chr8:107670148..107672369-chr8:107708725..107710422,2	MCF-7	breast:
6	chr8:107629734..107630516-chr8:107670589..107671141,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253582	TF binding region
ENSG00000253582	CpG island
ENSG00000253676	Chromatin interaction
ENSG00000146731	Chromatin interaction
ENSG00000164830	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1080965	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1580428	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1676418	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1676419	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1681881	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1681887	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1784468	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1784470	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1784476	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1784478	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1784484	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1784485	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1784489	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1784493	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs702776	0.84[EUR][1000 genomes]
rs702777	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs776935	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs776936	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs776937	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs776942	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs776952	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs776956	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs776958	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs776964	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs776966	0.81[EUR][1000 genomes]
rs776967	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs776968	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs812907	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs936737	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs959301	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831419	chr8:107624709-107827801	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv6342	chr8:107644092-107688898	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107667000-107671400	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr8:107668600-107670800	Active TSS	Fetal Kidney	kidney
3	chr8:107668600-107672200	Active TSS	Rectal Smooth Muscle	rectum
4	chr8:107668800-107670800	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr8:107668800-107671000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:107668800-107671000	Active TSS	NHDF-Ad	bronchial
7	chr8:107668800-107671200	Active TSS	Sigmoid Colon	Sigmoid Colon
8	chr8:107668800-107672000	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr8:107669000-107671000	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr8:107669000-107671000	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr8:107669000-107671000	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr8:107669000-107671000	Active TSS	Muscle Satellite Cultured Cells	--
13	chr8:107669000-107671000	Active TSS	HMEC	breast
14	chr8:107669000-107671200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:107669000-107671600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:107669000-107671800	Active TSS	Right Atrium	heart
17	chr8:107669000-107671800	Active TSS	K562	blood
18	chr8:107669200-107670800	Active TSS	Thymus	Thymus
19	chr8:107669200-107670800	Active TSS	NH-A	brain
20	chr8:107669200-107671000	Active TSS	H1 Cell Line	embryonic stem cell
21	chr8:107669200-107671000	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr8:107669200-107671000	Active TSS	Placenta Amnion	Placenta Amnion
23	chr8:107669200-107671000	Active TSS	A549	lung
24	chr8:107669200-107671200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:107669200-107671200	Active TSS	Primary monocytes fromperipheralblood	blood
26	chr8:107669200-107671200	Active TSS	Primary T cells fromperipheralblood	blood
27	chr8:107669200-107671200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:107669200-107671200	Active TSS	Brain Hippocampus Middle	brain
29	chr8:107669200-107671200	Active TSS	Fetal Intestine Small	intestine
30	chr8:107669200-107671200	Active TSS	Fetal Lung	lung
31	chr8:107669200-107671200	Active TSS	Fetal Muscle Trunk	muscle
32	chr8:107669200-107671200	Active TSS	Fetal Muscle Leg	muscle
33	chr8:107669200-107671200	Active TSS	Fetal Thymus	thymus
34	chr8:107669200-107671200	Active TSS	Stomach Mucosa	stomach
35	chr8:107669200-107671400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:107669200-107671400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:107669200-107671400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:107669200-107671400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr8:107669200-107671400	Active TSS	Ovary	ovary
40	chr8:107669200-107671400	Active TSS	Stomach Smooth Muscle	stomach
41	chr8:107669200-107671400	Active TSS	GM12878-XiMat	blood
42	chr8:107669200-107671600	Active TSS	H9 Cell Line	embryonic stem cell
43	chr8:107669200-107671600	Active TSS	Psoas Muscle	Psoas
44	chr8:107669200-107672000	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr8:107669200-107672000	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr8:107669200-107672000	Active TSS	Right Ventricle	heart
47	chr8:107669200-107672600	Active TSS	Aorta	Aorta
48	chr8:107669400-107670800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:107669400-107670800	Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr8:107669400-107670800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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