Variant report

Variant	rs114089731
Chromosome Location	chr1:155658060-155658061
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:289)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr1:155657850-155659102	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr1:155657879-155659126	GM12892	blood:	n/a	n/a
3	YY1	chr1:155657921-155658226	HCT-116	colon:	n/a	chr1:155658104-155658116 chr1:155658098-155658118
4	TAF1	chr1:155657989-155658948	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr1:155657724-155659235	K562	blood:	n/a	n/a
6	ETS1	chr1:155657920-155659068	K562	blood:	n/a	n/a
7	MXI1	chr1:155657936-155659339	GM12878	blood:	n/a	n/a
8	TAF1	chr1:155657930-155659118	PFSK-1	brain:	n/a	n/a
9	STAT5A	chr1:155657886-155659043	GM12878	blood:	n/a	n/a
10	ATF2	chr1:155657966-155658413	GM12878	blood:	n/a	n/a
11	POLR2A	chr1:155657942-155659104	NB4	blood:	n/a	n/a
12	ELF1	chr1:155657994-155659110	MCF-7	breast:	n/a	n/a
13	TCF12	chr1:155657857-155659107	ECC-1	luminal epithelium:	n/a	chr1:155658613-155658621
14	MAX	chr1:155657845-155659153	K562	blood:	n/a	n/a
15	POLR2A	chr1:155657545-155659203	MCF-7	breast:	n/a	n/a
16	GTF2B	chr1:155658044-155658242	K562	blood:	n/a	n/a
17	POLR2A	chr1:155658046-155659227	HepG2	liver:	n/a	n/a
18	TAF1	chr1:155657958-155659150	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr1:155657022-155659399	GM12891	blood:	n/a	n/a
20	POLR2A	chr1:155657313-155659921	SK-N-MC	brain:	n/a	n/a
21	HMGN3	chr1:155658051-155658968	K562	blood:	n/a	n/a
22	YY1	chr1:155657917-155658913	NT2-D1	testis:	n/a	chr1:155658104-155658116 chr1:155658098-155658118
23	POLR2A	chr1:155657536-155659221	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr1:155657872-155659214	A549	lung:	n/a	n/a
25	ZNF263	chr1:155657891-155659069	HEK293-T-REx	kidney:	n/a	chr1:155658185-155658206
26	HEY1	chr1:155657874-155659086	HepG2	liver:	n/a	n/a
27	POLR2A	chr1:155658000-155659239	PANC-1	pancreas:	n/a	n/a
28	MYC	chr1:155658058-155659419	NB4	blood:	n/a	n/a
29	POLR2A	chr1:155657951-155659114	GM19099	blood:	n/a	n/a
30	REST	chr1:155657844-155659186	A549	lung:	n/a	n/a
31	SPI1	chr1:155657671-155658076	GM12878	blood:	n/a	chr1:155657725-155657738
32	POLR2A	chr1:155657998-155658687	SK-N-SH	brain:	n/a	n/a
33	TAF1	chr1:155657931-155659100	SK-N-SH	brain:	n/a	n/a
34	BCLAF1	chr1:155657814-155658689	GM12878	blood:	n/a	n/a
35	YY1	chr1:155657483-155659068	A549	lung:	n/a	chr1:155658104-155658116 chr1:155658098-155658118 chr1:155657727-155657738
36	TAF1	chr1:155657908-155659183	GM12892	blood:	n/a	n/a
37	TAF1	chr1:155657984-155659061	PFSK-1	brain:	n/a	n/a
38	POU2F2	chr1:155657229-155659302	GM12891	blood:	n/a	n/a
39	RUNX3	chr1:155657863-155659021	GM12878	blood:	n/a	n/a
40	TAF1	chr1:155657641-155659177	GM12891	blood:	n/a	n/a
41	POLR2A	chr1:155657564-155659171	H1-hESC	embryonic stem cell:	n/a	n/a
42	ZBTB7A	chr1:155658035-155658855	K562	blood:	n/a	n/a
43	YY1	chr1:155657757-155658433	H1-hESC	embryonic stem cell:	n/a	chr1:155658104-155658116 chr1:155658098-155658118
44	RELA	chr1:155658037-155659065	GM18951	blood:	n/a	n/a
45	POLR2A	chr1:155657840-155659106	H1-neurons	neurons:	n/a	n/a
46	GATA3	chr1:155657944-155659026	A549	lung:	n/a	n/a
47	POLR2A	chr1:155656131-155659454	GM12878	blood:	n/a	n/a
48	CHD2	chr1:155658017-155658965	GM12878	blood:	n/a	chr1:155658567-155658577
49	POU2F2	chr1:155657218-155659223	GM12878	blood:	n/a	n/a
50	TAF1	chr1:155657848-155659106	H1-neurons	neurons:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155531220..155534536-chr1:155656727..155659727,4	MCF-7	breast:
2	chr1:155532102..155532798-chr1:155657720..155658726,4	NB4	blood:
3	chr1:155658041..155658957-chr2:61243850..61244532,2	Hela-S3	cervix:
4	chr1:155656761..155658571-chr1:155822378..155824933,2	K562	blood:
5	chr1:155650232..155654143-chr1:155656732..155660370,8	MCF-7	breast:
6	chr1:155657577..155658554-chr17:56736530..56737192,2	MCF-7	breast:
7	chr1:155530812..155532531-chr1:155657028..155659724,4	K562	blood:
8	chr1:155646937..155653370-chr1:155653884..155660272,11	K562	blood:
9	chr1:155658041..155658876-chr9:75766420..75767093,2	Hela-S3	cervix:
10	chr1:155657873..155658675-chr15:91415725..91416297,2	Hela-S3	cervix:
11	chr1:155657851..155658412-chr9:98637639..98638211,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
DAP3	TF binding region
ENSG00000202077	Chromatin interaction
ENSG00000162928	Chromatin interaction
ENSG00000163374	Chromatin interaction
ENSG00000235919	Chromatin interaction
ENSG00000175611	Chromatin interaction
ENSG00000182150	Chromatin interaction
ENSG00000140564	Chromatin interaction
ENSG00000116539	Chromatin interaction
ENSG00000135046	Chromatin interaction
ENSG00000162927	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	esv3388968	chr1:155532335-155658278	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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

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	chr1:155656400-155658200	Active TSS	Right Atrium	heart
7	chr1:155656400-155659200	Active TSS	Primary T cells from cord blood	blood
8	chr1:155656400-155659200	Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr1:155656400-155659400	Active TSS	Ovary	ovary
10	chr1:155656400-155659600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:155656400-155659800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:155656400-155659800	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr1:155656400-155659800	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr1:155656400-155659800	Active TSS	Thymus	Thymus
15	chr1:155656400-155659800	Active TSS	GM12878-XiMat	blood
16	chr1:155656400-155660000	Active TSS	Fetal Kidney	kidney
17	chr1:155656400-155660200	Active TSS	HSMM	muscle
18	chr1:155656400-155660200	Active TSS	NHLF	lung
19	chr1:155656400-155660400	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr1:155656600-155659200	Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr1:155656600-155659200	Active TSS	Adipose Nuclei	Adipose
22	chr1:155656600-155659600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:155656600-155659600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:155656600-155659600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:155656600-155659600	Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr1:155656600-155659600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:155656600-155659600	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr1:155656600-155659600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:155656600-155659600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr1:155656600-155659600	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr1:155656600-155659600	Active TSS	Monocytes-CD14+_RO01746	blood
32	chr1:155656600-155659600	Active TSS	Osteobl	bone
33	chr1:155656600-155659800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:155656600-155659800	Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr1:155656600-155659800	Active TSS	Brain Hippocampus Middle	brain
36	chr1:155656600-155659800	Active TSS	Fetal Intestine Small	intestine
37	chr1:155656600-155659800	Active TSS	Stomach Smooth Muscle	stomach
38	chr1:155656600-155659800	Active TSS	HMEC	breast
39	chr1:155656600-155659800	Active TSS	NH-A	brain
40	chr1:155656600-155660000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:155656600-155660000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:155656600-155660000	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr1:155656600-155660000	Active TSS	Duodenum Mucosa	Duodenum
44	chr1:155656600-155660000	Active TSS	A549	lung
45	chr1:155656600-155660000	Active TSS	Hela-S3	cervix
46	chr1:155656600-155660000	Active TSS	K562	blood
47	chr1:155656600-155660000	Active TSS	NHEK	skin
48	chr1:155656600-155660200	Active TSS	Muscle Satellite Cultured Cells	--
49	chr1:155656600-155660200	Active TSS	Rectal Smooth Muscle	rectum
50	chr1:155656800-155659200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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