Variant report

Variant	rs184334797
Chromosome Location	chr5:59996426-59996427
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:217)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:217 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYB	chr5:59995554-59996449	Hela-S3	cervix:	n/a	chr5:59996013-59996028 chr5:59996014-59996028 chr5:59996015-59996030 chr5:59996013-59996028
2	KAP1	chr5:59995333-59996536	HEK293	kidney:	n/a	n/a
3	TAF1	chr5:59995404-59996524	ECC-1	luminal epithelium:	n/a	n/a
4	HEY1	chr5:59995185-59996646	K562	blood:	n/a	chr5:59995936-59995951 chr5:59995842-59995857 chr5:59996024-59996039
5	MAX	chr5:59995225-59996649	K562	blood:	n/a	n/a
6	CREB1	chr5:59995293-59996595	HepG2	liver:	n/a	n/a
7	POLR2A	chr5:59995292-59996599	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr5:59995284-59996921	K562	blood:	n/a	n/a
9	POLR2A	chr5:59995273-59996555	Hela-S3	cervix:	n/a	n/a
10	ATF1	chr5:59995447-59996702	K562	blood:	n/a	n/a
11	POLR2A	chr5:59995328-59996556	Raji	blood:	n/a	n/a
12	MYC	chr5:59995284-59996677	K562	blood:	n/a	n/a
13	TCF7L2	chr5:59995243-59996475	Hela-S3	cervix:	n/a	n/a
14	CTBP2	chr5:59995369-59996427	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr5:59995227-59997036	SK-N-MC	brain:	n/a	n/a
16	ZC3H11A	chr5:59995805-59996522	K562	blood:	n/a	n/a
17	MXI1	chr5:59995362-59996570	K562	blood:	n/a	n/a
18	PML	chr5:59995301-59996595	MCF-7	breast:	n/a	n/a
19	HCFC1	chr5:59994863-59996773	Hela-S3	cervix:	n/a	n/a
20	HEY1	chr5:59995356-59996468	K562	blood:	n/a	chr5:59995936-59995951 chr5:59995842-59995857 chr5:59996024-59996039
21	MAX	chr5:59995202-59996774	HCT-116	colon:	n/a	n/a
22	CEBPB	chr5:59996231-59997044	K562	blood:	n/a	n/a
23	MAX	chr5:59995220-59996639	NB4	blood:	n/a	n/a
24	POLR2A	chr5:59995426-59996478	GM12878	blood:	n/a	n/a
25	TAF1	chr5:59995359-59996490	K562	blood:	n/a	n/a
26	MTA3	chr5:59994872-59996687	GM12878	blood:	n/a	n/a
27	PML	chr5:59995412-59996645	K562	blood:	n/a	n/a
28	POLR2A	chr5:59996276-59996538	HCT-116	colon:	n/a	n/a
29	MAX	chr5:59995248-59996540	HCT-116	colon:	n/a	n/a
30	POLR2A	chr5:59995318-59996812	HepG2	liver:	n/a	n/a
31	SIN3A	chr5:59995090-59996525	H1-hESC	embryonic stem cell:	n/a	chr5:59996009-59996018
32	HA-E2F1	chr5:59995291-59996896	MCF-7	breast:	n/a	chr5:59996023-59996032
33	MYC	chr5:59995070-59997191	K562	blood:	n/a	n/a
34	POLR2A	chr5:59995259-59996467	GM19193	blood:	n/a	n/a
35	E2F4	chr5:59994881-59997215	MCF10A-Er-Src	breast:	n/a	chr5:59996023-59996032
36	FOXM1	chr5:59995378-59996714	MCF-7	breast:	n/a	n/a
37	GABPA	chr5:59995222-59996622	MCF-7	breast:	n/a	n/a
38	PAX5	chr5:59995895-59996453	GM12878	blood:	n/a	chr5:59996404-59996423
39	POLR2A	chr5:59995319-59996439	MCF-7	breast:	n/a	n/a
40	CREB1	chr5:59995198-59996501	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr5:59994852-59996810	GM12878	blood:	n/a	n/a
42	MAX	chr5:59994929-59996530	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr5:59995373-59996526	GM12892	blood:	n/a	n/a
44	BHLHE40	chr5:59995469-59997496	K562	blood:	n/a	chr5:59995940-59995956 chr5:59995931-59995947
45	E2F6	chr5:59995310-59996733	A549	lung:	n/a	chr5:59996023-59996032
46	MAZ	chr5:59994931-59996505	IMR90	lung:	n/a	n/a
47	JUND	chr5:59995155-59996866	K562	blood:	n/a	chr5:59995330-59995344 chr5:59996617-59996625
48	MAX	chr5:59995485-59996451	MCF-7	breast:	n/a	n/a
49	MAX	chr5:59995514-59996634	A549	lung:	n/a	n/a
50	TAF1	chr5:59995277-59996497	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:59996421-59996471	HRE	kidney:	n/a
2	chr5:59996421-59996471	MCF-7	breast:	n/a
3	chr5:59996421-59996471	AG10803	skin:	n/a
4	chr5:59996421-59996471	HUVEC	blood vessel:	n/a
5	chr5:59996421-59996471	HMEC	breast:	n/a
6	chr5:59996421-59996471	HL-60	blood:	n/a
7	chr5:59996421-59996471	HIPEpiC	eye:	n/a
8	chr5:59996421-59996471	LNCaP	prostate:	n/a
9	chr5:59996421-59996471	GM19239	blood:	n/a
10	chr5:59996421-59996471	SK-N-SH	brain:	n/a
11	chr5:59996421-59996471	PrEC	prostate:	n/a
12	chr5:59996421-59996471	NH-A	brain:	n/a
13	chr5:59996421-59996471	HCPEpiC	choroid plexus:	n/a
14	chr5:59996421-59996471	H1-hESC	embryonic stem cell:	embryo
15	chr5:59996421-59996471	AG09319	gingival:	n/a
16	chr5:59996421-59996471	HNPCEpiC	eye:	n/a
17	chr5:59996421-59996471	Hela-S3	cervix:	n/a
18	chr5:59996421-59996471	HCT-116	colon:	n/a
19	chr5:59996421-59996471	HEEpiC	esophagus:	n/a
20	chr5:59996421-59996471	NHBE	bronchial:	n/a
21	chr5:59996421-59996471	SKMC	muscle:	n/a
22	chr5:59996421-59996471	AG04449	skin:	fetal
23	chr5:59996421-59996471	GM12878	blood:	n/a
24	chr5:59996421-59996471	K562	blood:	n/a
25	chr5:59996421-59996471	AoSMC	blood vessel:	n/a
26	chr5:59996421-59996471	T-47D	breast:	n/a
27	chr5:59996421-59996471	IMR90	lung:	fetal
28	chr5:59996421-59996471	SAEC	small airway:	n/a
29	chr5:59996421-59996471	U87	brain:	n/a
30	chr5:59996421-59996471	MCF10A-Er-Src	breast:	n/a
31	chr5:59996421-59996471	GM12891	blood:	n/a
32	chr5:59996421-59996471	NT2-D1	testis:	n/a
33	chr5:59996421-59996471	ProgFib	skin:	n/a
34	chr5:59996421-59996471	HEK293	kidney:	embryo
35	chr5:59996421-59996471	CMK	blood:	n/a
36	chr5:59996421-59996471	HPAEpiC	pulmonary alveolar:	n/a
37	chr5:59996421-59996471	PANC-1	pancreas:	n/a
38	chr5:59996421-59996471	HAEpiC	amniotic membrane:	n/a
39	chr5:59996421-59996471	GM12892	blood:	n/a
40	chr5:59996421-59996471	ECC-1	luminal epithelium:	n/a
41	chr5:59996421-59996471	NB4	blood:	n/a
42	chr5:59996421-59996471	ovcar-3	ovarian:	n/a
43	chr5:59996421-59996471	HRPEpiC	eye:	n/a
44	chr5:59996421-59996471	HCF	heart:	n/a
45	chr5:59996421-59996471	SK-N-MC	brain:	n/a
46	chr5:59996421-59996471	A549	lung:	n/a
47	chr5:59996421-59996471	NHDF-neo	bronchial:	n/a
48	chr5:59996421-59996471	AG09309	skin:	n/a
49	chr5:59996421-59996471	HepG2	liver:	n/a
50	chr5:59996421-59996471	Caco-2	colon:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:75385509..75386409-chr5:59996058..59996562,2	HCT-116	colon:
2	chr5:59994474..59997876-chr5:60455928..60460228,5	K562	blood:
3	chr5:59995106..59997535-chr5:60240120..60242292,3	K562	blood:
4	chr5:59994210..59996553-chr5:60627404..60629725,2	MCF-7	breast:
5	chr5:59995886..59998322-chr5:60239584..60242446,2	MCF-7	breast:
6	chr5:59996423..59998684-chr5:60001090..60003995,3	MCF-7	breast:

No data

Variant related genes	Relation type
DEPDC1B	TF binding region
DEPDC1B	CpG island
ENSG00000166348	Chromatin interaction
ENSG00000251279	Chromatin interaction
ENSG00000164182	Chromatin interaction
ENSG00000268584	Chromatin interaction
ENSG00000130449	Chromatin interaction
ENSG00000188725	Chromatin interaction
ENSG00000049167	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv492277	chr5:59905195-60180834	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv462198	chr5:59969015-60116613	Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv598298	chr5:59969015-60116613	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1023403	chr5:59969534-60079822	Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv4850	chr5:59976186-60039810	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv508362	chr5:59990308-60050894	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
8	esv1816307	chr5:59992305-60012235	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
9	esv1794154	chr5:59995393-60012235	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	esv1821070	chr5:59995393-60012235	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	esv1801919	chr5:59995393-60013913	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 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	chr5:59992600-59996600	Active TSS	GM12878-XiMat	blood
2	chr5:59994200-59996600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:59994200-59996800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:59994400-59996600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:59994400-59996600	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr5:59994400-59996600	Active TSS	K562	blood
7	chr5:59994400-59996800	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr5:59994400-59996800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:59994400-59997000	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr5:59994600-59996600	Active TSS	H1 Cell Line	embryonic stem cell
11	chr5:59994600-59996800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:59994600-59996800	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr5:59994600-59996800	Active TSS	NHLF	lung
14	chr5:59994800-59996600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr5:59994800-59996600	Active TSS	H9 Cell Line	embryonic stem cell
16	chr5:59994800-59996600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:59994800-59996600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:59994800-59996600	Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr5:59994800-59996600	Active TSS	Fetal Intestine Small	intestine
20	chr5:59994800-59996800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:59994800-59996800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:59994800-59996800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:59994800-59996800	Active TSS	HSMM	muscle
24	chr5:59994800-59996800	Active TSS	HSMMtube	muscle
25	chr5:59994800-59996800	Active TSS	NHDF-Ad	bronchial
26	chr5:59994800-59997000	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr5:59994800-59997000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:59994800-59997000	Active TSS	Fetal Brain Female	brain
29	chr5:59994800-59997000	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr5:59995000-59996600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:59995000-59996600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:59995000-59996600	Active TSS	Muscle Satellite Cultured Cells	--
33	chr5:59995000-59996600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:59995000-59996600	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr5:59995000-59996600	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr5:59995000-59996600	Active TSS	Fetal Intestine Large	intestine
37	chr5:59995000-59996600	Active TSS	Stomach Mucosa	stomach
38	chr5:59995000-59996600	Active TSS	Spleen	Spleen
39	chr5:59995000-59996600	Active TSS	NH-A	brain
40	chr5:59995000-59996800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:59995000-59996800	Active TSS	Colonic Mucosa	Colon
42	chr5:59995000-59996800	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr5:59995000-59996800	Active TSS	Fetal Muscle Trunk	muscle
44	chr5:59995000-59996800	Active TSS	Fetal Stomach	stomach
45	chr5:59995000-59996800	Active TSS	Rectal Smooth Muscle	rectum
46	chr5:59995200-59996600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr5:59995200-59996600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr5:59995200-59996600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr5:59995200-59996600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:59995200-59996600	Active TSS	Brain Germinal Matrix	brain

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