Variant report

Variant	rs41264955
Chromosome Location	chr1:155659232-155659233
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:103)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:103 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:155657724-155659235	K562	blood:	n/a	n/a
2	MXI1	chr1:155657936-155659339	GM12878	blood:	n/a	n/a
3	MYC	chr1:155658079-155659423	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr1:155657022-155659399	GM12891	blood:	n/a	n/a
5	POLR2A	chr1:155657313-155659921	SK-N-MC	brain:	n/a	n/a
6	MAX	chr1:155659155-155659414	K562	blood:	n/a	n/a
7	POLR2A	chr1:155658000-155659239	PANC-1	pancreas:	n/a	n/a
8	IRF4	chr1:155658179-155659272	GM12878	blood:	n/a	n/a
9	MYC	chr1:155658058-155659419	NB4	blood:	n/a	n/a
10	MAX	chr1:155658093-155659323	K562	blood:	n/a	n/a
11	POU2F2	chr1:155657229-155659302	GM12891	blood:	n/a	n/a
12	IRF4	chr1:155658166-155659372	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:155656131-155659454	GM12878	blood:	n/a	n/a
14	REST	chr1:155657712-155659357	H1-neurons	neurons:	n/a	n/a
15	CHD1	chr1:155657643-155659334	IMR90	lung:	n/a	chr1:155658567-155658577
16	SIN3AK20	chr1:155657668-155659436	A549	lung:	n/a	n/a
17	ESRRA	chr1:155657749-155659268	GM12878	blood:	n/a	chr1:155658402-155658415
18	POLR2A	chr1:155657671-155659330	K562	blood:	n/a	n/a
19	POLR2A	chr1:155657825-155659356	SK-N-SH	brain:	n/a	n/a
20	MAX	chr1:155657798-155659603	K562	blood:	n/a	n/a
21	SP1	chr1:155658005-155659462	A549	lung:	n/a	n/a
22	MYC	chr1:155659211-155659268	HUVEC	blood vessel:	n/a	n/a
23	MXI1	chr1:155657667-155659525	IMR90	lung:	n/a	n/a
24	MAX	chr1:155659151-155659453	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr1:155657874-155659238	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr1:155658528-155659266	GM12878	blood:	n/a	n/a
27	POLR2A	chr1:155657122-155659540	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr1:155656935-155659427	GM12892	blood:	n/a	n/a
29	TAF1	chr1:155658677-155659278	GM12891	blood:	n/a	n/a
30	MAX	chr1:155659211-155659320	H1-hESC	embryonic stem cell:	n/a	n/a
31	MXI1	chr1:155657636-155660213	SK-N-SH	brain:	n/a	n/a
32	NFIC	chr1:155657384-155659305	GM12878	blood:	n/a	n/a
33	POLR2A	chr1:155657226-155659289	ProgFib	skin:	n/a	n/a
34	SP1	chr1:155657441-155659263	A549	lung:	n/a	chr1:155657728-155657742 chr1:155657729-155657738 chr1:155657635-155657649
35	MAX	chr1:155658019-155659347	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr1:155657440-155659380	PFSK-1	brain:	n/a	n/a
37	SIN3A	chr1:155657734-155659247	H1-hESC	embryonic stem cell:	n/a	chr1:155658542-155658555
38	POLR2A	chr1:155657130-155659466	GM12891	blood:	n/a	n/a
39	POLR2A	chr1:155657740-155659263	GM12878	blood:	n/a	n/a
40	MAX	chr1:155658008-155659525	MCF-7	breast:	n/a	n/a
41	MYC	chr1:155658107-155659298	MCF-7	breast:	n/a	n/a
42	POLR2A	chr1:155657501-155659247	MCF-7	breast:	n/a	n/a
43	MYC	chr1:155659101-155659341	K562	blood:	n/a	n/a
44	POLR2A	chr1:155657270-155659425	GM12892	blood:	n/a	n/a
45	POLR2A	chr1:155657243-155659320	GM12878	blood:	n/a	n/a
46	YY1	chr1:155659164-155659308	K562	blood:	n/a	n/a
47	MYC	chr1:155659228-155659327	MCF10A-Er-Src	breast:	n/a	n/a
48	MAX	chr1:155658027-155659431	NB4	blood:	n/a	n/a
49	POLR2A	chr1:155657487-155659441	PFSK-1	brain:	n/a	n/a
50	POLR2A	chr1:155657533-155659270	A549	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:155659194-155659244	HMEC	breast:	n/a
2	chr1:155659194-155659244	AG04449	skin:	fetal
3	chr1:155659194-155659244	GM19239	blood:	n/a
4	chr1:155659194-155659244	HCT-116	colon:	n/a
5	chr1:155659194-155659244	BJ	skin:	n/a
6	chr1:155659194-155659244	T-47D	breast:	n/a
7	chr1:155659194-155659244	RPTEC	kidney:	n/a
8	chr1:155659194-155659244	Jurkat	blood:	n/a
9	chr1:155659194-155659244	K562	blood:	n/a
10	chr1:155659194-155659244	NT2-D1	testis:	n/a
11	chr1:155659194-155659244	HEK293	kidney:	embryo
12	chr1:155659194-155659244	HCPEpiC	choroid plexus:	n/a
13	chr1:155659194-155659244	AG04450	lung:	fetal
14	chr1:155659194-155659244	NHDF-neo	bronchial:	n/a
15	chr1:155659194-155659244	AG09319	gingival:	n/a
16	chr1:155659194-155659244	CMK	blood:	n/a
17	chr1:155659194-155659244	HRE	kidney:	n/a
18	chr1:155659194-155659244	GM12892	blood:	n/a
19	chr1:155659194-155659244	U87	brain:	n/a
20	chr1:155659194-155659244	HUVEC	blood vessel:	n/a
21	chr1:155659194-155659244	ovcar-3	ovarian:	n/a
22	chr1:155659194-155659244	SKMC	muscle:	n/a
23	chr1:155659194-155659244	HRCEpiC	kidney:	n/a
24	chr1:155659194-155659244	GM06990	blood:	n/a
25	chr1:155659194-155659244	GM12878	blood:	n/a
26	chr1:155659194-155659244	NH-A	brain:	n/a
27	chr1:155659194-155659244	NB4	blood:	n/a
28	chr1:155659194-155659244	HIPEpiC	eye:	n/a
29	chr1:155659194-155659244	LNCaP	prostate:	n/a
30	chr1:155659194-155659244	Hepatocyte	liver:	n/a
31	chr1:155659194-155659244	HCF	heart:	n/a
32	chr1:155659194-155659244	HCM	heart:	n/a
33	chr1:155659194-155659244	AG09309	skin:	n/a
34	chr1:155659194-155659244	ECC-1	luminal epithelium:	n/a
35	chr1:155659194-155659244	GM12891	blood:	n/a
36	chr1:155659194-155659244	HNPCEpiC	eye:	n/a
37	chr1:155659194-155659244	Hela-S3	cervix:	n/a
38	chr1:155659194-155659244	HL-60	blood:	n/a
39	chr1:155659194-155659244	HPAEpiC	pulmonary alveolar:	n/a
40	chr1:155659194-155659244	HepG2	liver:	n/a
41	chr1:155659194-155659244	SK-N-MC	brain:	n/a
42	chr1:155659194-155659244	PrEC	prostate:	n/a
43	chr1:155659194-155659244	ProgFib	skin:	n/a
44	chr1:155659194-155659244	HEEpiC	esophagus:	n/a
45	chr1:155659194-155659244	MCF-7	breast:	n/a
46	chr1:155659194-155659244	AoSMC	blood vessel:	n/a
47	chr1:155659194-155659244	SK-N-SH_RA	brain:	n/a
48	chr1:155659194-155659244	IMR90	lung:	fetal
49	chr1:155659194-155659244	PANC-1	pancreas:	n/a
50	chr1:155659194-155659244	SAEC	small airway:	n/a

(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	chr1:155650232..155654143-chr1:155656732..155660370,8	MCF-7	breast:
3	chr1:155658633..155662039-chr1:156022948..156025065,3	K562	blood:
4	chr1:155530812..155532531-chr1:155657028..155659724,4	K562	blood:
5	chr1:155658521..155660214-chr1:164740544..164742861,2	MCF-7	breast:
6	chr1:155646937..155653370-chr1:155653884..155660272,11	K562	blood:
7	chr1:155531168..155533264-chr1:155658199..155660031,3	MCF-7	breast:
8	chr1:155293644..155295180-chr1:155658200..155659752,2	MCF-7	breast:
9	chr1:155647841..155650282-chr1:155658064..155659902,2	MCF-7	breast:
10	chr1:155658615..155659548-chr3:138312824..138313654,2	Hela-S3	cervix:
11	chr1:155195691..155197531-chr1:155658226..155660788,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DAP3-1	chr1:155658886-155659418	NONHSAT006758

No data

Variant related genes	Relation type
YY1AP1	TF binding region
YY1AP1	CpG island
ENSG00000116586	Chromatin interaction
ENSG00000185630	Chromatin interaction
ENSG00000160803	Chromatin interaction
ENSG00000163374	Chromatin interaction
ENSG00000116539	Chromatin interaction
ENSG00000160753	Chromatin interaction
ENSG00000225855	Chromatin interaction
ENSG00000114107	Chromatin interaction
ENSG00000235919	Chromatin interaction
ENSG00000160766	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 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	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
14	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
15	esv3319427	chr1:155658853-155661701	Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
16	esv3319428	chr1:155658853-155661701	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
17	esv3529724	chr1:155659028-155665126	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
18	esv3319429	chr1:155659028-155665326	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr1:155656400-155659400	Active TSS	Ovary	ovary
7	chr1:155656400-155659600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:155656400-155659800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:155656400-155659800	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr1:155656400-155659800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr1:155656400-155659800	Active TSS	Thymus	Thymus
12	chr1:155656400-155659800	Active TSS	GM12878-XiMat	blood
13	chr1:155656400-155660000	Active TSS	Fetal Kidney	kidney
14	chr1:155656400-155660200	Active TSS	HSMM	muscle
15	chr1:155656400-155660200	Active TSS	NHLF	lung
16	chr1:155656400-155660400	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr1:155656600-155659600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:155656600-155659600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:155656600-155659600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:155656600-155659600	Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr1:155656600-155659600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:155656600-155659600	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr1:155656600-155659600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:155656600-155659600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr1:155656600-155659600	Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr1:155656600-155659600	Active TSS	Monocytes-CD14+_RO01746	blood
27	chr1:155656600-155659600	Active TSS	Osteobl	bone
28	chr1:155656600-155659800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:155656600-155659800	Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr1:155656600-155659800	Active TSS	Brain Hippocampus Middle	brain
31	chr1:155656600-155659800	Active TSS	Fetal Intestine Small	intestine
32	chr1:155656600-155659800	Active TSS	Stomach Smooth Muscle	stomach
33	chr1:155656600-155659800	Active TSS	HMEC	breast
34	chr1:155656600-155659800	Active TSS	NH-A	brain
35	chr1:155656600-155660000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:155656600-155660000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:155656600-155660000	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr1:155656600-155660000	Active TSS	Duodenum Mucosa	Duodenum
39	chr1:155656600-155660000	Active TSS	A549	lung
40	chr1:155656600-155660000	Active TSS	Hela-S3	cervix
41	chr1:155656600-155660000	Active TSS	K562	blood
42	chr1:155656600-155660000	Active TSS	NHEK	skin
43	chr1:155656600-155660200	Active TSS	Muscle Satellite Cultured Cells	--
44	chr1:155656600-155660200	Active TSS	Rectal Smooth Muscle	rectum
45	chr1:155656800-155659600	Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr1:155656800-155659600	Active TSS	HUVEC	blood vessel
47	chr1:155656800-155660200	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr1:155657000-155659400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:155657000-155659600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:155657200-155659400	Active TSS	Fetal Muscle Trunk	muscle

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