Variant report

Variant	rs6847771
Chromosome Location	chr4:7940439-7940440
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
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	CHD1	chr4:7938516-7942221	IMR90	lung:	n/a	n/a
2	POLR2A	chr4:7939632-7941984	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr4:7939500-7942061	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr4:7939629-7940687	SK-N-SH	brain:	n/a	n/a
5	TAF1	chr4:7940202-7940515	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr4:7939405-7940717	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr4:7939516-7942080	HUVEC	blood vessel:	n/a	n/a
8	BACH1	chr4:7940212-7941701	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F4	chr4:7940023-7940610	MCF10A-Er-Src	breast:	n/a	chr4:7940388-7940395 chr4:7940384-7940395 chr4:7940387-7940395 chr4:7940383-7940395 chr4:7940386-7940396 chr4:7940387-7940395 chr4:7940385-7940396
10	POLR2A	chr4:7940099-7940655	PFSK-1	brain:	n/a	n/a
11	MAZ	chr4:7939417-7942102	IMR90	lung:	n/a	chr4:7940793-7940802
12	SIN3AK20	chr4:7940299-7940813	SK-N-SH	brain:	n/a	n/a
13	ZBTB7A	chr4:7940372-7941609	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr4:7940248-7942132	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr4:7940383-7942109	H1-neurons	neurons:	n/a	n/a
16	SIN3A	chr4:7940325-7940848	H1-hESC	embryonic stem cell:	n/a	chr4:7940646-7940654 chr4:7940710-7940721 chr4:7940421-7940430
17	MAX	chr4:7940088-7941150	A549	lung:	n/a	chr4:7940793-7940802
18	ZBTB7A	chr4:7940291-7942133	ECC-1	luminal epithelium:	n/a	n/a
19	RAD21	chr4:7939607-7941038	IMR90	lung:	n/a	chr4:7939913-7939925
20	POLR2A	chr4:7940270-7940895	HUVEC	blood vessel:	n/a	n/a
21	MXI1	chr4:7939421-7942036	IMR90	lung:	n/a	n/a
22	TCF12	chr4:7940197-7940980	A549	lung:	n/a	n/a
23	POLR2A	chr4:7940252-7940674	ProgFib	skin:	n/a	n/a
24	POLR2A	chr4:7939541-7942011	IMR90	lung:	n/a	n/a
25	MXI1	chr4:7939452-7942147	SK-N-SH	brain:	n/a	n/a
26	SIN3AK20	chr4:7940266-7941787	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr4:7940250-7940449	Hela-S3	cervix:	n/a	n/a
28	RCOR1	chr4:7940368-7940556	Hela-S3	cervix:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:7940426-7940476	ovcar-3	ovarian:	n/a
2	chr4:7940389-7940439	K562	blood:	n/a
3	chr4:7940389-7940439	PFSK-1	brain:	n/a
4	chr4:7940389-7940439	HL-60	blood:	n/a
5	chr4:7940389-7940439	Caco-2	colon:	n/a
6	chr4:7940426-7940476	ECC-1	luminal epithelium:	n/a
7	chr4:7940426-7940476	RPTEC	kidney:	n/a
8	chr4:7940389-7940439	IMR90	lung:	fetal
9	chr4:7940426-7940476	HL-60	blood:	n/a
10	chr4:7940389-7940439	BJ	skin:	n/a
11	chr4:7940426-7940476	CMK	blood:	n/a
12	chr4:7940426-7940476	ProgFib	skin:	n/a
13	chr4:7940426-7940476	HAEpiC	amniotic membrane:	n/a
14	chr4:7940426-7940476	HCT-116	colon:	n/a
15	chr4:7940426-7940476	HMEC	breast:	n/a
16	chr4:7940426-7940476	HNPCEpiC	eye:	n/a
17	chr4:7940426-7940476	AG09309	skin:	n/a
18	chr4:7940426-7940476	IMR90	lung:	fetal
19	chr4:7940426-7940476	Jurkat	blood:	n/a
20	chr4:7940389-7940439	HCPEpiC	choroid plexus:	n/a
21	chr4:7940389-7940439	NH-A	brain:	n/a
22	chr4:7940426-7940476	HRE	kidney:	n/a
23	chr4:7940426-7940476	A549	lung:	n/a
24	chr4:7940426-7940476	HRCEpiC	kidney:	n/a
25	chr4:7940426-7940476	HRPEpiC	eye:	n/a
26	chr4:7940389-7940439	LNCaP	prostate:	n/a
27	chr4:7940426-7940476	PANC-1	pancreas:	n/a
28	chr4:7940426-7940476	AG04449	skin:	fetal
29	chr4:7940426-7940476	H1-hESC	embryonic stem cell:	embryo
30	chr4:7940426-7940476	PrEC	prostate:	n/a
31	chr4:7940426-7940476	Caco-2	colon:	n/a
32	chr4:7940426-7940476	SK-N-SH	brain:	n/a
33	chr4:7940426-7940476	HUVEC	blood vessel:	n/a
34	chr4:7940389-7940439	HRCEpiC	kidney:	n/a
35	chr4:7940389-7940439	GM19239	blood:	n/a
36	chr4:7940426-7940476	HepG2	liver:	n/a
37	chr4:7940389-7940439	GM12891	blood:	n/a
38	chr4:7940426-7940476	NHBE	bronchial:	n/a
39	chr4:7940389-7940439	MCF-7	breast:	n/a
40	chr4:7940426-7940476	AG04450	lung:	fetal
41	chr4:7940389-7940439	HPAEpiC	pulmonary alveolar:	n/a
42	chr4:7940426-7940476	HCPEpiC	choroid plexus:	n/a
43	chr4:7940426-7940476	BJ	skin:	n/a
44	chr4:7940389-7940439	T-47D	breast:	n/a
45	chr4:7940389-7940439	SKMC	muscle:	n/a
46	chr4:7940389-7940439	ECC-1	luminal epithelium:	n/a
47	chr4:7940389-7940439	HCF	heart:	n/a
48	chr4:7940426-7940476	HEEpiC	esophagus:	n/a
49	chr4:7940389-7940439	HCM	heart:	n/a
50	chr4:7940389-7940439	AG09319	gingival:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7799366..7802066-chr4:7938906..7941900,2	MCF-7	breast:
2	chr4:7805902..7806736-chr4:7939845..7940494,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228919	TF binding region
ENSG00000228919	CpG island
ENSG00000196526	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6834060	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6839128	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3370778	chr4:7940277-7942825	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7937800-7941800	Active TSS	A549	lung
2	chr4:7938200-7941800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr4:7938800-7941800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:7938800-7941800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:7938800-7941800	Active TSS	NHDF-Ad	bronchial
6	chr4:7939000-7941800	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr4:7939200-7941800	Active TSS	Rectal Smooth Muscle	rectum
8	chr4:7939200-7941800	Active TSS	NH-A	brain
9	chr4:7939200-7941800	Active TSS	Osteobl	bone
10	chr4:7939200-7942000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:7939400-7941200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
12	chr4:7939400-7941800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:7939400-7941800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:7939400-7942000	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr4:7939600-7940600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr4:7939600-7940600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:7939600-7940600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
18	chr4:7939600-7940600	Flanking Active TSS	NHEK	skin
19	chr4:7939600-7941600	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr4:7939600-7942000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:7939600-7942000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:7939600-7942000	Active TSS	Aorta	Aorta
23	chr4:7939800-7940600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr4:7939800-7940600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr4:7939800-7940600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:7939800-7940800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
27	chr4:7939800-7941000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr4:7939800-7941200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:7939800-7941600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr4:7939800-7941800	Active TSS	Esophagus	oesophagus
31	chr4:7939800-7941800	Active TSS	Fetal Kidney	kidney
32	chr4:7939800-7941800	Active TSS	Fetal Stomach	stomach
33	chr4:7939800-7942000	Active TSS	H9 Cell Line	embryonic stem cell
34	chr4:7939800-7942000	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr4:7940000-7940600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr4:7940000-7940800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
37	chr4:7940000-7940800	Active TSS	Colonic Mucosa	Colon
38	chr4:7940000-7941000	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr4:7940000-7941000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
40	chr4:7940000-7941400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
41	chr4:7940000-7941600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:7940000-7941800	Active TSS	Placenta Amnion	Placenta Amnion
43	chr4:7940000-7941800	Active TSS	Stomach Smooth Muscle	stomach
44	chr4:7940000-7941800	Active TSS	Hela-S3	cervix
45	chr4:7940000-7941800	Active TSS	HSMMtube	muscle
46	chr4:7940000-7942000	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr4:7940000-7942000	Active TSS	Colon Smooth Muscle	Colon
48	chr4:7940000-7942000	Active TSS	Gastric	stomach
49	chr4:7940000-7942000	Active TSS	Ovary	ovary
50	chr4:7940000-7942000	Active TSS	Right Atrium	heart

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