Variant report

Variant	rs535731792
Chromosome Location	chr1:155658553-155658554
allele	-/CC
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:414)
CpG islands
(count:61)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:414 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:155658480-155658630	HEEpiC	esophagus:	n/a	n/a
2	EP300	chr1:155657850-155659102	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr1:155657879-155659126	GM12892	blood:	n/a	n/a
4	NFYB	chr1:155658077-155658594	GM12878	blood:	n/a	n/a
5	ETS1	chr1:155658111-155658986	K562	blood:	n/a	n/a
6	TAF1	chr1:155657989-155658948	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr1:155657724-155659235	K562	blood:	n/a	n/a
8	ETS1	chr1:155657920-155659068	K562	blood:	n/a	n/a
9	SRF	chr1:155658532-155658673	GM12878	blood:	n/a	n/a
10	MXI1	chr1:155657936-155659339	GM12878	blood:	n/a	n/a
11	TAF1	chr1:155657930-155659118	PFSK-1	brain:	n/a	n/a
12	STAT5A	chr1:155657886-155659043	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:155658066-155659151	HepG2	liver:	n/a	n/a
14	POLR2A	chr1:155657942-155659104	NB4	blood:	n/a	n/a
15	ELF1	chr1:155657994-155659110	MCF-7	breast:	n/a	n/a
16	NFIC	chr1:155658488-155658876	HepG2	liver:	n/a	n/a
17	TCF12	chr1:155657857-155659107	ECC-1	luminal epithelium:	n/a	chr1:155658613-155658621
18	MAX	chr1:155657845-155659153	K562	blood:	n/a	n/a
19	ETS1	chr1:155658448-155659092	GM12878	blood:	n/a	n/a
20	MYC	chr1:155658079-155659423	MCF10A-Er-Src	breast:	n/a	n/a
21	REST	chr1:155658337-155658643	PANC-1	pancreas:	n/a	n/a
22	POLR2A	chr1:155657545-155659203	MCF-7	breast:	n/a	n/a
23	MYBL2	chr1:155658365-155659211	HepG2	liver:	n/a	n/a
24	POLR2A	chr1:155658046-155659227	HepG2	liver:	n/a	n/a
25	ATF3	chr1:155658307-155659029	A549	lung:	n/a	n/a
26	TAF1	chr1:155657958-155659150	ECC-1	luminal epithelium:	n/a	n/a
27	EP300	chr1:155658369-155658744	SK-N-SH_RA	brain:	n/a	n/a
28	POLR2A	chr1:155657022-155659399	GM12891	blood:	n/a	n/a
29	POLR2A	chr1:155657313-155659921	SK-N-MC	brain:	n/a	n/a
30	HMGN3	chr1:155658051-155658968	K562	blood:	n/a	n/a
31	YY1	chr1:155657917-155658913	NT2-D1	testis:	n/a	chr1:155658104-155658116 chr1:155658098-155658118
32	EP300	chr1:155658422-155658707	GM12878	blood:	n/a	n/a
33	POLR2A	chr1:155657536-155659221	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr1:155657872-155659214	A549	lung:	n/a	n/a
35	ZNF263	chr1:155657891-155659069	HEK293-T-REx	kidney:	n/a	chr1:155658185-155658206
36	HEY1	chr1:155657874-155659086	HepG2	liver:	n/a	n/a
37	TCF7L2	chr1:155658519-155658946	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr1:155658000-155659239	PANC-1	pancreas:	n/a	n/a
39	IRF4	chr1:155658179-155659272	GM12878	blood:	n/a	n/a
40	MYC	chr1:155658058-155659419	NB4	blood:	n/a	n/a
41	POLR2A	chr1:155657951-155659114	GM19099	blood:	n/a	n/a
42	REST	chr1:155657844-155659186	A549	lung:	n/a	n/a
43	POLR2A	chr1:155657998-155658687	SK-N-SH	brain:	n/a	n/a
44	TAF1	chr1:155657931-155659100	SK-N-SH	brain:	n/a	n/a
45	GABPA	chr1:155658503-155658961	A549	lung:	n/a	chr1:155658572-155658583 chr1:155658569-155658583
46	PML	chr1:155658199-155659111	K562	blood:	n/a	n/a
47	GABPA	chr1:155658499-155658970	HepG2	liver:	n/a	chr1:155658572-155658583 chr1:155658569-155658583
48	MAX	chr1:155658093-155659323	K562	blood:	n/a	n/a
49	BCLAF1	chr1:155657814-155658689	GM12878	blood:	n/a	n/a
50	YY1	chr1:155657483-155659068	A549	lung:	n/a	chr1:155658104-155658116 chr1:155658098-155658118 chr1:155657727-155657738

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:155658509-155658559	T-47D	breast:	n/a
2	chr1:155658509-155658559	K562	blood:	n/a
3	chr1:155658509-155658559	AG04449	skin:	fetal
4	chr1:155658509-155658559	NT2-D1	testis:	n/a
5	chr1:155658509-155658559	ProgFib	skin:	n/a
6	chr1:155658509-155658559	BJ	skin:	n/a
7	chr1:155658509-155658559	HRPEpiC	eye:	n/a
8	chr1:155658509-155658559	NB4	blood:	n/a
9	chr1:155658509-155658559	HCF	heart:	n/a
10	chr1:155658509-155658559	HNPCEpiC	eye:	n/a
11	chr1:155658509-155658559	SK-N-SH	brain:	n/a
12	chr1:155658509-155658559	HEEpiC	esophagus:	n/a
13	chr1:155658509-155658559	A549	lung:	n/a
14	chr1:155658509-155658559	HRE	kidney:	n/a
15	chr1:155658509-155658559	AoSMC	blood vessel:	n/a
16	chr1:155658509-155658559	HEK293	kidney:	embryo
17	chr1:155658509-155658559	SKMC	muscle:	n/a
18	chr1:155658509-155658559	SK-N-SH_RA	brain:	n/a
19	chr1:155658509-155658559	NH-A	brain:	n/a
20	chr1:155658509-155658559	AG09319	gingival:	n/a
21	chr1:155658509-155658559	Hepatocyte	liver:	n/a
22	chr1:155658509-155658559	GM12892	blood:	n/a
23	chr1:155658509-155658559	H1-hESC	embryonic stem cell:	embryo
24	chr1:155658509-155658559	SAEC	small airway:	n/a
25	chr1:155658509-155658559	HCM	heart:	n/a
26	chr1:155658509-155658559	RPTEC	kidney:	n/a
27	chr1:155658509-155658559	HUVEC	blood vessel:	n/a
28	chr1:155658509-155658559	NHDF-neo	bronchial:	n/a
29	chr1:155658509-155658559	HAEpiC	amniotic membrane:	n/a
30	chr1:155658509-155658559	HPAEpiC	pulmonary alveolar:	n/a
31	chr1:155658509-155658559	PFSK-1	brain:	n/a
32	chr1:155658509-155658559	AG09309	skin:	n/a
33	chr1:155658509-155658559	ECC-1	luminal epithelium:	n/a
34	chr1:155658509-155658559	PrEC	prostate:	n/a
35	chr1:155658509-155658559	Caco-2	colon:	n/a
36	chr1:155658509-155658559	AG04450	lung:	fetal
37	chr1:155658509-155658559	GM12878	blood:	n/a
38	chr1:155658509-155658559	GM12891	blood:	n/a
39	chr1:155658509-155658559	HIPEpiC	eye:	n/a
40	chr1:155658509-155658559	HCPEpiC	choroid plexus:	n/a
41	chr1:155658509-155658559	IMR90	lung:	fetal
42	chr1:155658509-155658559	ovcar-3	ovarian:	n/a
43	chr1:155658509-155658559	NHBE	bronchial:	n/a
44	chr1:155658509-155658559	HCT-116	colon:	n/a
45	chr1:155658509-155658559	MCF10A-Er-Src	breast:	n/a
46	chr1:155658509-155658559	PANC-1	pancreas:	n/a
47	chr1:155658509-155658559	CMK	blood:	n/a
48	chr1:155658509-155658559	SK-N-MC	brain:	n/a
49	chr1:155658509-155658559	GM19239	blood:	n/a
50	chr1:155658509-155658559	HepG2	liver:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:155658491..155659047-chr12:49658493..49659361,2	Hela-S3	cervix:
2	chr1:155531220..155534536-chr1:155656727..155659727,4	MCF-7	breast:
3	chr1:155532102..155532798-chr1:155657720..155658726,4	NB4	blood:
4	chr1:155658041..155658957-chr2:61243850..61244532,2	Hela-S3	cervix:
5	chr1:155656761..155658571-chr1:155822378..155824933,2	K562	blood:
6	chr1:155532081..155532969-chr1:155658202..155658825,5	HCT-116	colon:
7	chr1:155650232..155654143-chr1:155656732..155660370,8	MCF-7	breast:
8	chr1:155657577..155658554-chr17:56736530..56737192,2	MCF-7	breast:
9	chr1:155530812..155532531-chr1:155657028..155659724,4	K562	blood:
10	chr1:155658521..155660214-chr1:164740544..164742861,2	MCF-7	breast:
11	chr1:155646937..155653370-chr1:155653884..155660272,11	K562	blood:
12	chr1:155531168..155533264-chr1:155658199..155660031,3	MCF-7	breast:
13	chr1:155293644..155295180-chr1:155658200..155659752,2	MCF-7	breast:
14	chr1:155647841..155650282-chr1:155658064..155659902,2	MCF-7	breast:
15	chr1:155658041..155658876-chr9:75766420..75767093,2	Hela-S3	cervix:
16	chr1:155657873..155658675-chr15:91415725..91416297,2	Hela-S3	cervix:
17	chr1:155532088..155532960-chr1:155658209..155658720,2	MCF-7	breast:
18	chr1:155195691..155197531-chr1:155658226..155660788,2	K562	blood:

No data

Variant related genes	Relation type
YY1AP1	TF binding region
DAP3	TF binding region
YY1AP1	CpG island
DAP3	CpG island
ENSG00000167553	Chromatin interaction
ENSG00000116539	Chromatin interaction
ENSG00000135046	Chromatin interaction
ENSG00000163374	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000162927	Chromatin interaction
ENSG00000225855	Chromatin interaction
ENSG00000162928	Chromatin interaction
ENSG00000235919	Chromatin interaction
ENSG00000160753	Chromatin interaction
ENSG00000140564	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000185630	Chromatin interaction
ENSG00000160766	Chromatin interaction
ENSG00000116580	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	esv3431739	chr1:155514331-155664183	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv1002390	chr1:155553423-155706930	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv436522	chr1:155559513-155674249	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	esv3360339	chr1:155562157-155683127	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
8	nsv547965	chr1:155563152-155688600	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
9	esv3381327	chr1:155582853-155718436	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
10	esv3436971	chr1:155618172-155733386	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
11	esv3338099	chr1:155618190-155733359	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
12	nsv3054	chr1:155653835-155673509	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	n/a
13	nsv946421	chr1:155656230-155659076	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	n/a
14	esv3339868	chr1:155658028-155662426	Weak transcription Active TSS Enhancers Genic enhancers Flanking 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	21 gene(s)	inside rSNPs	n/a
15	esv3529730	chr1:155658528-155665576	Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	20 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	chr1:155655400-155659600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:155656200-155659800	Active TSS	HSMMtube	muscle
3	chr1:155656200-155659800	Active TSS	NHDF-Ad	bronchial
4	chr1:155656200-155660000	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr1:155656200-155660200	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr1:155656400-155659200	Active TSS	Primary T cells from cord blood	blood
7	chr1:155656400-155659200	Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr1:155656400-155659400	Active TSS	Ovary	ovary
9	chr1:155656400-155659600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:155656400-155659800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:155656400-155659800	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr1:155656400-155659800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr1:155656400-155659800	Active TSS	Thymus	Thymus
14	chr1:155656400-155659800	Active TSS	GM12878-XiMat	blood
15	chr1:155656400-155660000	Active TSS	Fetal Kidney	kidney
16	chr1:155656400-155660200	Active TSS	HSMM	muscle
17	chr1:155656400-155660200	Active TSS	NHLF	lung
18	chr1:155656400-155660400	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr1:155656600-155659200	Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr1:155656600-155659200	Active TSS	Adipose Nuclei	Adipose
21	chr1:155656600-155659600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:155656600-155659600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:155656600-155659600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:155656600-155659600	Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr1:155656600-155659600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:155656600-155659600	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr1:155656600-155659600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:155656600-155659600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr1:155656600-155659600	Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr1:155656600-155659600	Active TSS	Monocytes-CD14+_RO01746	blood
31	chr1:155656600-155659600	Active TSS	Osteobl	bone
32	chr1:155656600-155659800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:155656600-155659800	Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr1:155656600-155659800	Active TSS	Brain Hippocampus Middle	brain
35	chr1:155656600-155659800	Active TSS	Fetal Intestine Small	intestine
36	chr1:155656600-155659800	Active TSS	Stomach Smooth Muscle	stomach
37	chr1:155656600-155659800	Active TSS	HMEC	breast
38	chr1:155656600-155659800	Active TSS	NH-A	brain
39	chr1:155656600-155660000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:155656600-155660000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:155656600-155660000	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr1:155656600-155660000	Active TSS	Duodenum Mucosa	Duodenum
43	chr1:155656600-155660000	Active TSS	A549	lung
44	chr1:155656600-155660000	Active TSS	Hela-S3	cervix
45	chr1:155656600-155660000	Active TSS	K562	blood
46	chr1:155656600-155660000	Active TSS	NHEK	skin
47	chr1:155656600-155660200	Active TSS	Muscle Satellite Cultured Cells	--
48	chr1:155656600-155660200	Active TSS	Rectal Smooth Muscle	rectum
49	chr1:155656800-155659200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:155656800-155659600	Active TSS	Cortex derived primary cultured neurospheres	brain

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