Variant report

Variant	rs3806811
Chromosome Location	chr4:8443041-8443042
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr4:8440970-8443464	K562	blood:	n/a	chr4:8442293-8442304 chr4:8442412-8442426
2	MXI1	chr4:8440826-8443653	IMR90	lung:	n/a	n/a
3	ELF1	chr4:8442189-8443125	GM12878	blood:	n/a	chr4:8442445-8442458
4	MYC	chr4:8441673-8443292	NB4	blood:	n/a	n/a
5	POLR2A	chr4:8442056-8443158	GM18951	blood:	n/a	n/a
6	E2F4	chr4:8442978-8443086	MCF10A-Er-Src	breast:	n/a	n/a
7	CREB1	chr4:8441921-8443230	HepG2	liver:	n/a	chr4:8442471-8442484
8	POLR2A	chr4:8440524-8443902	MCF10A-Er-Src	breast:	n/a	n/a
9	ATF1	chr4:8441931-8444132	K562	blood:	n/a	n/a
10	POLR2A	chr4:8441725-8443474	PBDE	blood:	n/a	n/a
11	POLR2A	chr4:8441936-8443134	Hela-S3	cervix:	n/a	n/a
12	CREB1	chr4:8441958-8443104	K562	blood:	n/a	chr4:8442471-8442484
13	CEBPB	chr4:8442929-8443676	K562	blood:	n/a	chr4:8443408-8443417 chr4:8443408-8443417 chr4:8443403-8443420 chr4:8443406-8443419 chr4:8443408-8443417 chr4:8443406-8443419 chr4:8443406-8443417
14	MYC	chr4:8442999-8443256	K562	blood:	n/a	n/a
15	UBTF	chr4:8442365-8443243	K562	blood:	n/a	n/a
16	MXI1	chr4:8441973-8443070	GM12878	blood:	n/a	n/a
17	POLR2A	chr4:8442926-8443227	H1-hESC	embryonic stem cell:	n/a	n/a
18	SIN3A	chr4:8441949-8443256	H1-hESC	embryonic stem cell:	n/a	chr4:8442260-8442274
19	REST	chr4:8441887-8443077	H1-neurons	neurons:	n/a	chr4:8442458-8442468
20	MYC	chr4:8441634-8443137	K562	blood:	n/a	n/a
21	MXI1	chr4:8441003-8443406	SK-N-SH	brain:	n/a	n/a
22	ZNF263	chr4:8442978-8443223	HEK293-T-REx	kidney:	n/a	n/a
23	POLR2A	chr4:8442028-8443095	Raji	blood:	n/a	n/a
24	CREB1	chr4:8442031-8443233	H1-hESC	embryonic stem cell:	n/a	chr4:8442471-8442484
25	E2F6	chr4:8442951-8443131	K562	blood:	n/a	n/a
26	POLR2A	chr4:8440963-8443196	MCF10A-Er-Src	breast:	n/a	n/a
27	MAX	chr4:8441452-8443206	K562	blood:	n/a	n/a
28	GATA1	chr4:8441277-8443098	PBDE	blood:	n/a	chr4:8442416-8442426

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:8443022-8443072	AoSMC	blood vessel:	n/a
2	chr4:8443022-8443072	NB4	blood:	n/a
3	chr4:8443022-8443072	ProgFib	skin:	n/a
4	chr4:8443022-8443072	HEK293	kidney:	embryo
5	chr4:8443022-8443072	GM12891	blood:	n/a
6	chr4:8443022-8443072	ECC-1	luminal epithelium:	n/a
7	chr4:8443022-8443072	NHBE	bronchial:	n/a
8	chr4:8443022-8443072	AG09309	skin:	n/a
9	chr4:8443022-8443072	HRE	kidney:	n/a
10	chr4:8443022-8443072	Jurkat	blood:	n/a
11	chr4:8443022-8443072	HUVEC	blood vessel:	n/a
12	chr4:8443022-8443072	HepG2	liver:	n/a
13	chr4:8443022-8443072	HAEpiC	amniotic membrane:	n/a
14	chr4:8443022-8443072	Hela-S3	cervix:	n/a
15	chr4:8443022-8443072	GM06990	blood:	n/a
16	chr4:8443022-8443072	AG09319	gingival:	n/a
17	chr4:8443022-8443072	NH-A	brain:	n/a
18	chr4:8443022-8443072	HL-60	blood:	n/a
19	chr4:8443022-8443072	Caco-2	colon:	n/a
20	chr4:8443022-8443072	Hepatocyte	liver:	n/a
21	chr4:8443022-8443072	BE2_C	brain:	n/a
22	chr4:8443022-8443072	HNPCEpiC	eye:	n/a
23	chr4:8443022-8443072	IMR90	lung:	fetal
24	chr4:8443022-8443072	GM12892	blood:	n/a
25	chr4:8443022-8443072	CMK	blood:	n/a
26	chr4:8443022-8443072	BJ	skin:	n/a
27	chr4:8443022-8443072	HIPEpiC	eye:	n/a
28	chr4:8443022-8443072	U87	brain:	n/a
29	chr4:8443022-8443072	SK-N-SH	brain:	n/a
30	chr4:8443022-8443072	H1-hESC	embryonic stem cell:	embryo
31	chr4:8443022-8443072	SAEC	small airway:	n/a
32	chr4:8443022-8443072	ovcar-3	ovarian:	n/a
33	chr4:8443022-8443072	HCPEpiC	choroid plexus:	n/a
34	chr4:8443022-8443072	AG04449	skin:	fetal
35	chr4:8443022-8443072	HMEC	breast:	n/a
36	chr4:8443022-8443072	PFSK-1	brain:	n/a
37	chr4:8443022-8443072	SK-N-SH_RA	brain:	n/a
38	chr4:8443022-8443072	LNCaP	prostate:	n/a
39	chr4:8443022-8443072	GM12878	blood:	n/a
40	chr4:8443022-8443072	HCT-116	colon:	n/a
41	chr4:8443022-8443072	NHDF-neo	bronchial:	n/a
42	chr4:8443022-8443072	HEEpiC	esophagus:	n/a
43	chr4:8443022-8443072	PrEC	prostate:	n/a
44	chr4:8443022-8443072	HRCEpiC	kidney:	n/a
45	chr4:8443022-8443072	AG04450	lung:	fetal
46	chr4:8443022-8443072	PANC-1	pancreas:	n/a
47	chr4:8443022-8443072	HCM	heart:	n/a
48	chr4:8443022-8443072	T-47D	breast:	n/a
49	chr4:8443022-8443072	MCF-7	breast:	n/a
50	chr4:8443022-8443072	NT2-D1	testis:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr4:8428810..8430394-chr4:8440724..8444143,3	K562	blood:
2	chr4:8439123..8440667-chr4:8441503..8443912,2	K562	blood:
3	chr4:8442733..8444744-chr4:8447806..8449869,2	MCF-7	breast:
4	chr4:8439008..8440667-chr4:8441503..8443852,2	K562	blood:
5	chr4:8428067..8433323-chr4:8440948..8445760,8	K562	blood:

No data

Variant related genes	Relation type
ACOX3	TF binding region
ACOX3	CpG island
ENSG00000155275	Chromatin interaction
ENSG00000087008	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10938716	0.88[ASN][1000 genomes]
rs10938717	0.88[ASN][1000 genomes]
rs13105415	0.88[ASN][1000 genomes]
rs13105907	0.92[ASN][1000 genomes]
rs13106582	0.86[ASN][1000 genomes]
rs13111630	0.88[ASN][1000 genomes]
rs13120514	0.88[ASN][1000 genomes]
rs13120605	0.92[ASN][1000 genomes]
rs13121817	0.92[ASN][1000 genomes]
rs13122276	0.92[ASN][1000 genomes]
rs13129077	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13132875	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13141535	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13147943	0.89[ASN][1000 genomes]
rs16842355	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34053441	0.81[ASN][1000 genomes]
rs34465110	0.83[ASN][1000 genomes]
rs34935132	0.94[ASN][1000 genomes]
rs35769879	0.90[ASN][1000 genomes]
rs36122693	0.88[ASN][1000 genomes]
rs3775895	0.90[ASN][1000 genomes]
rs3796763	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56786736	0.92[ASN][1000 genomes]
rs60080531	0.92[ASN][1000 genomes]
rs6811968	0.90[ASN][1000 genomes]
rs6813502	0.90[ASN][1000 genomes]
rs6816430	0.90[ASN][1000 genomes]
rs6832505	0.90[ASN][1000 genomes]
rs6832668	0.90[ASN][1000 genomes]
rs73089514	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7670021	0.88[ASN][1000 genomes]
rs7697154	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv461220	chr4:8372944-8458394	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv593638	chr4:8372944-8458394	Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv829854	chr4:8402921-8506407	Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr4:8439600-8443800	Active TSS	K562	blood
2	chr4:8440800-8443400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:8440800-8443400	Active TSS	Ovary	ovary
4	chr4:8441400-8443200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:8441400-8443400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:8441400-8443400	Active TSS	Psoas Muscle	Psoas
7	chr4:8441400-8443400	Active TSS	Sigmoid Colon	Sigmoid Colon
8	chr4:8441400-8443400	Active TSS	NHLF	lung
9	chr4:8441400-8443800	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr4:8441400-8444000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr4:8441600-8443200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:8441600-8443200	Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr4:8441600-8443200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:8441600-8443200	Active TSS	Brain Anterior Caudate	brain
15	chr4:8441600-8443200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr4:8441600-8443200	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr4:8441600-8443400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:8441600-8443400	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr4:8441600-8443400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:8441600-8443400	Active TSS	Fetal Kidney	kidney
21	chr4:8441600-8443400	Active TSS	Rectal Smooth Muscle	rectum
22	chr4:8441600-8443400	Active TSS	Right Atrium	heart
23	chr4:8441600-8443400	Active TSS	GM12878-XiMat	blood
24	chr4:8441600-8443400	Active TSS	Hela-S3	cervix
25	chr4:8441600-8443400	Active TSS	HMEC	breast
26	chr4:8441600-8443400	Active TSS	NHDF-Ad	bronchial
27	chr4:8441600-8443400	Active TSS	NHEK	skin
28	chr4:8441600-8443600	Active TSS	Fetal Intestine Small	intestine
29	chr4:8441600-8443800	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr4:8441600-8443800	Active TSS	HSMM	muscle
31	chr4:8441600-8445000	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr4:8441800-8443200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:8441800-8443200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:8441800-8443200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:8441800-8443200	Active TSS	Muscle Satellite Cultured Cells	--
36	chr4:8441800-8443200	Active TSS	Fetal Heart	heart
37	chr4:8441800-8443200	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr4:8441800-8443200	Active TSS	Fetal Stomach	stomach
39	chr4:8441800-8443200	Active TSS	Placenta Amnion	Placenta Amnion
40	chr4:8441800-8443200	Active TSS	Right Ventricle	heart
41	chr4:8441800-8443400	Active TSS	H1 Cell Line	embryonic stem cell
42	chr4:8441800-8443400	Active TSS	H9 Cell Line	embryonic stem cell
43	chr4:8441800-8443400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr4:8441800-8443400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:8441800-8443400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr4:8441800-8443400	Active TSS	Aorta	Aorta
47	chr4:8441800-8443400	Active TSS	Esophagus	oesophagus
48	chr4:8441800-8443400	Active TSS	Fetal Lung	lung
49	chr4:8441800-8443400	Active TSS	Gastric	stomach
50	chr4:8441800-8443400	Active TSS	Left Ventricle	heart

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