Variant report

Variant	rs555681733
Chromosome Location	chr4:129730807-129730808
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:617)
CpG islands
(count:61)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:617 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:129730542-129731475	HL-60	blood:	n/a	n/a
2	RAD21	chr4:129730402-129731208	H1-hESC	embryonic stem cell:	n/a	chr4:129730800-129730814 chr4:129730771-129730780
3	CHD1	chr4:129730550-129733472	H1-hESC	embryonic stem cell:	n/a	chr4:129732389-129732399 chr4:129733422-129733432 chr4:129733260-129733270 chr4:129733062-129733072
4	MXI1	chr4:129730257-129734736	IMR90	lung:	n/a	n/a
5	POLR2A	chr4:129730532-129734022	HCT-116	colon:	n/a	n/a
6	HEY1	chr4:129730588-129731480	K562	blood:	n/a	chr4:129730719-129730734
7	CTCF	chr4:129730780-129730930	NHLF	lung:	n/a	chr4:129730800-129730813
8	POLR2A	chr4:129730570-129731542	SK-N-SH	brain:	n/a	n/a
9	EP300	chr4:129730561-129731081	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr4:129730679-129730972	MCF-7	breast:	n/a	chr4:129730800-129730813
11	POLR2A	chr4:129730561-129734095	K562	blood:	n/a	n/a
12	CTCF	chr4:129730740-129730890	MCF-7	breast:	n/a	chr4:129730800-129730813
13	FOXA2	chr4:129730655-129731033	A549	lung:	n/a	n/a
14	ZNF143	chr4:129730648-129730983	Hela-S3	cervix:	n/a	n/a
15	REST	chr4:129730713-129730940	A549	lung:	n/a	n/a
16	TAF1	chr4:129730594-129731431	K562	blood:	n/a	n/a
17	CTCF	chr4:129730660-129730810	AG04450	lung:	n/a	n/a
18	MAX	chr4:129730552-129731070	SK-N-SH	brain:	n/a	n/a
19	GTF2F1	chr4:129730632-129730973	K562	blood:	n/a	n/a
20	EP300	chr4:129730611-129730988	SK-N-SH_RA	brain:	n/a	n/a
21	POLR2A	chr4:129730506-129734115	K562	blood:	n/a	n/a
22	PBX3	chr4:129730581-129731515	SK-N-SH	brain:	n/a	n/a
23	REST	chr4:129730404-129731586	H1-neurons	neurons:	n/a	chr4:129730675-129730688
24	FOS	chr4:129730687-129730969	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr4:129730508-129731416	U87	brain:	n/a	n/a
26	TAF1	chr4:129730568-129731511	SK-N-SH	brain:	n/a	n/a
27	RAD21	chr4:129730576-129731051	GM12878	blood:	n/a	chr4:129730800-129730814 chr4:129730771-129730780
28	CTCF	chr4:129730760-129730910	HMEC	breast:	n/a	chr4:129730800-129730813
29	ZBTB7A	chr4:129730462-129731678	ECC-1	luminal epithelium:	n/a	chr4:129731474-129731488
30	CTCF	chr4:129730760-129730910	HBMEC	blood vessel:	n/a	chr4:129730800-129730813
31	SP4	chr4:129730618-129731014	H1-hESC	embryonic stem cell:	n/a	chr4:129730765-129730776 chr4:129730751-129730762
32	POLR2A	chr4:129730599-129734478	GM18505	blood:	n/a	n/a
33	ELF1	chr4:129730664-129731112	K562	blood:	n/a	chr4:129730675-129730687
34	NFIC	chr4:129730449-129731042	ECC-1	luminal epithelium:	n/a	n/a
35	CREB1	chr4:129730516-129731599	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr4:129730619-129731085	ECC-1	luminal epithelium:	n/a	n/a
37	RELA	chr4:129730601-129734033	GM12891	blood:	n/a	n/a
38	POLR2A	chr4:129730637-129734008	GM12878	blood:	n/a	n/a
39	ELF1	chr4:129730534-129731252	GM12878	blood:	n/a	chr4:129730675-129730687
40	MAX	chr4:129730513-129731090	SK-N-SH	brain:	n/a	n/a
41	CTCF	chr4:129730780-129730930	GM12865	blood:	n/a	chr4:129730800-129730813
42	UBTF	chr4:129730658-129731441	K562	blood:	n/a	n/a
43	POLR2A	chr4:129730510-129734063	Raji	blood:	n/a	n/a
44	MYC	chr4:129730657-129731023	HUVEC	blood vessel:	n/a	n/a
45	MAX	chr4:129730540-129731387	K562	blood:	n/a	n/a
46	NFATC1	chr4:129730504-129731060	GM12878	blood:	n/a	n/a
47	MYC	chr4:129730573-129733589	Hela-S3	cervix:	n/a	chr4:129732622-129732632 chr4:129732621-129732632 chr4:129732618-129732633 chr4:129732623-129732630 chr4:129732622-129732631 chr4:129732396-129732406 chr4:129733335-129733345 chr4:129733276-129733286
48	PAX5	chr4:129730595-129731119	GM12878	blood:	n/a	chr4:129730620-129730647
49	EP300	chr4:129730595-129731018	SK-N-SH_RA	brain:	n/a	n/a
50	POLR2A	chr4:129730519-129731751	PBDE	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:129730778-129730828	AG09309	skin:	n/a
2	chr4:129730778-129730828	ECC-1	luminal epithelium:	n/a
3	chr4:129730778-129730828	GM12892	blood:	n/a
4	chr4:129730778-129730828	Caco-2	colon:	n/a
5	chr4:129730778-129730828	BJ	skin:	n/a
6	chr4:129730778-129730828	Jurkat	blood:	n/a
7	chr4:129730778-129730828	NH-A	brain:	n/a
8	chr4:129730778-129730828	BE2_C	brain:	n/a
9	chr4:129730778-129730828	HCPEpiC	choroid plexus:	n/a
10	chr4:129730778-129730828	CMK	blood:	n/a
11	chr4:129730778-129730828	Hela-S3	cervix:	n/a
12	chr4:129730778-129730828	GM12891	blood:	n/a
13	chr4:129730778-129730828	AG09319	gingival:	n/a
14	chr4:129730778-129730828	HL-60	blood:	n/a
15	chr4:129730778-129730828	U87	brain:	n/a
16	chr4:129730778-129730828	HepG2	liver:	n/a
17	chr4:129730778-129730828	AG04450	lung:	fetal
18	chr4:129730778-129730828	GM12878	blood:	n/a
19	chr4:129730778-129730828	NHBE	bronchial:	n/a
20	chr4:129730778-129730828	NT2-D1	testis:	n/a
21	chr4:129730778-129730828	NHDF-neo	bronchial:	n/a
22	chr4:129730778-129730828	HEEpiC	esophagus:	n/a
23	chr4:129730778-129730828	SK-N-SH_RA	brain:	n/a
24	chr4:129730778-129730828	HCF	heart:	n/a
25	chr4:129730778-129730828	ProgFib	skin:	n/a
26	chr4:129730778-129730828	A549	lung:	n/a
27	chr4:129730778-129730828	HEK293	kidney:	embryo
28	chr4:129730778-129730828	HCM	heart:	n/a
29	chr4:129730778-129730828	PANC-1	pancreas:	n/a
30	chr4:129730778-129730828	MCF10A-Er-Src	breast:	n/a
31	chr4:129730778-129730828	AG04449	skin:	fetal
32	chr4:129730778-129730828	ovcar-3	ovarian:	n/a
33	chr4:129730778-129730828	SAEC	small airway:	n/a
34	chr4:129730778-129730828	GM19239	blood:	n/a
35	chr4:129730778-129730828	HRE	kidney:	n/a
36	chr4:129730778-129730828	HRPEpiC	eye:	n/a
37	chr4:129730778-129730828	HNPCEpiC	eye:	n/a
38	chr4:129730778-129730828	AG10803	skin:	n/a
39	chr4:129730778-129730828	HCT-116	colon:	n/a
40	chr4:129730778-129730828	LNCaP	prostate:	n/a
41	chr4:129730778-129730828	MCF-7	breast:	n/a
42	chr4:129730778-129730828	NB4	blood:	n/a
43	chr4:129730778-129730828	SK-N-SH	brain:	n/a
44	chr4:129730778-129730828	SK-N-MC	brain:	n/a
45	chr4:129730778-129730828	HMEC	breast:	n/a
46	chr4:129730778-129730828	Hepatocyte	liver:	n/a
47	chr4:129730778-129730828	PrEC	prostate:	n/a
48	chr4:129730778-129730828	HRCEpiC	kidney:	n/a
49	chr4:129730778-129730828	IMR90	lung:	fetal
50	chr4:129730778-129730828	AoSMC	blood vessel:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:129375160..129378617-chr4:129730147..129733611,3	MCF-7	breast:
2	chr4:128980795..128984031-chr4:129730059..129735028,7	K562	blood:
3	chr4:129374782..129377512-chr4:129729521..129732215,3	K562	blood:
4	chr4:129472709..129474756-chr4:129728389..129731319,2	MCF-7	breast:
5	chr4:128980795..128982891-chr4:129730267..129732892,3	K562	blood:
6	chr4:129730688..129731418-chr6:24720530..24721134,2	Hela-S3	cervix:
7	chr4:129491375..129494260-chr4:129730648..129733095,2	MCF-7	breast:
8	chr4:129518963..129527383-chr4:129727996..129735335,14	K562	blood:
9	chr4:129206178..129209105-chr4:129728853..129732712,4	K562	blood:
10	chr4:129473168..129475213-chr4:129730479..129732295,2	K562	blood:
11	chr4:129209335..129213237-chr4:129730288..129733311,3	K562	blood:
12	chr4:129730547..129732304-chr4:129732580..129735331,2	MCF-7	breast:
13	chr4:129730646..129731365-chr6:31939370..31940250,2	Hela-S3	cervix:
14	chr4:129376012..129378140-chr4:129729596..129731686,2	K562	blood:
15	chr4:129207558..129209105-chr4:129728853..129730896,2	K562	blood:
16	chr4:129472659..129478043-chr4:129729703..129733779,4	K562	blood:
17	chr4:129730340..129733748-chr4:130013373..130016609,5	K562	blood:
18	chr4:129348880..129349601-chr4:129730054..129731203,4	MCF-7	breast:

No data

Variant related genes	Relation type
JADE1	TF binding region
JADE1	CpG island
ENSG00000204344	Chromatin interaction
ENSG00000204348	Chromatin interaction
ENSG00000164040	Chromatin interaction
ENSG00000112308	Chromatin interaction
ENSG00000138709	Chromatin interaction
ENSG00000151470	Chromatin interaction
ENSG00000248802	Chromatin interaction
ENSG00000248187	Chromatin interaction
ENSG00000077684	Chromatin interaction
ENSG00000251432	Chromatin interaction
ENSG00000273077	Chromatin interaction
ENSG00000151466	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1020801	chr4:129658178-129778086	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv537248	chr4:129658178-129778086	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv822717	chr4:129724785-129739862	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	n/a
5	esv3340336	chr4:129730252-129734500	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129726200-129731200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:129730000-129734000	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr4:129730200-129734200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:129730200-129734200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr4:129730200-129734200	Active TSS	K562	blood
6	chr4:129730200-129734400	Active TSS	NHDF-Ad	bronchial
7	chr4:129730400-129731000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:129730400-129731400	Active TSS	Primary hematopoietic stem cells	blood
9	chr4:129730400-129731400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:129730400-129732000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr4:129730400-129732000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:129730400-129732000	Active TSS	Placenta	Placenta
13	chr4:129730400-129732000	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr4:129730400-129732000	Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr4:129730400-129732200	Active TSS	Right Atrium	heart
16	chr4:129730400-129733600	Active TSS	Primary T cells fromperipheralblood	blood
17	chr4:129730400-129733600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chr4:129730400-129733600	Active TSS	Thymus	Thymus
19	chr4:129730400-129733800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:129730400-129733800	Active TSS	Primary T cells from cord blood	blood
21	chr4:129730400-129733800	Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr4:129730400-129733800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:129730400-129733800	Active TSS	Brain Cingulate Gyrus	brain
24	chr4:129730400-129733800	Active TSS	Brain Hippocampus Middle	brain
25	chr4:129730400-129733800	Active TSS	Fetal Brain Female	brain
26	chr4:129730400-129733800	Active TSS	Fetal Kidney	kidney
27	chr4:129730400-129733800	Active TSS	Fetal Muscle Leg	muscle
28	chr4:129730400-129733800	Active TSS	Fetal Thymus	thymus
29	chr4:129730400-129733800	Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr4:129730400-129733800	Active TSS	Stomach Smooth Muscle	stomach
31	chr4:129730400-129733800	Active TSS	Osteobl	bone
32	chr4:129730400-129734000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr4:129730400-129734000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:129730400-129734000	Active TSS	Fetal Intestine Large	intestine
35	chr4:129730400-129734000	Active TSS	Pancreas	Pancrea
36	chr4:129730400-129734000	Active TSS	Rectal Smooth Muscle	rectum
37	chr4:129730400-129734000	Active TSS	NHEK	skin
38	chr4:129730400-129734200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr4:129730400-129734200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:129730400-129734200	Active TSS	Brain Angular Gyrus	brain
41	chr4:129730400-129734200	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr4:129730400-129734200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:129730400-129734200	Active TSS	Brain Substantia Nigra	brain
44	chr4:129730400-129734200	Active TSS	Colon Smooth Muscle	Colon
45	chr4:129730400-129734200	Active TSS	Fetal Muscle Trunk	muscle
46	chr4:129730400-129734200	Active TSS	Left Ventricle	heart
47	chr4:129730400-129734200	Active TSS	Ovary	ovary
48	chr4:129730400-129734200	Active TSS	HSMM	muscle
49	chr4:129730400-129734200	Active TSS	HSMMtube	muscle
50	chr4:129730400-129734400	Active TSS	Brain Anterior Caudate	brain

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