Variant report

Variant	rs534182375
Chromosome Location	chr1:155659991-155659992
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr1:155659591-155660372	K562	blood:	n/a	n/a
2	MXI1	chr1:155657636-155660213	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr1:155659949-155660348	K562	blood:	n/a	n/a
4	POLR2A	chr1:155657029-155659995	GM12892	blood:	n/a	n/a
5	POLR2A	chr1:155659905-155660407	K562	blood:	n/a	n/a
6	POLR2A	chr1:155656320-155660418	GM12892	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:155650232..155654143-chr1:155656732..155660370,8	MCF-7	breast:
2	chr1:155658633..155662039-chr1:156022948..156025065,3	K562	blood:
3	chr1:155658521..155660214-chr1:164740544..164742861,2	MCF-7	breast:
4	chr1:155646937..155653370-chr1:155653884..155660272,11	K562	blood:
5	chr1:155531168..155533264-chr1:155658199..155660031,3	MCF-7	breast:
6	chr1:155195691..155197531-chr1:155658226..155660788,2	K562	blood:

No data

Variant related genes	Relation type
YY1AP1	TF binding region
ENSG00000160803	Chromatin interaction
ENSG00000163374	Chromatin interaction
ENSG00000116539	Chromatin interaction
ENSG00000185630	Chromatin interaction
ENSG00000160766	Chromatin interaction
ENSG00000116586	Chromatin interaction
ENSG00000235919	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:29 , 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
19	esv3452512	chr1:155659621-155664566	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
20	esv3529726	chr1:155659644-155664581	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
21	esv3529725	chr1:155659667-155664604	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
22	esv3452511	chr1:155659675-155664534	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
23	esv3529727	chr1:155659701-155664609	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
24	esv3452510	chr1:155659746-155664469	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
25	esv15603	chr1:155659754-155664482	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
26	esv3529731	chr1:155659756-155664467	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
27	esv3452513	chr1:155659760-155664465	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
28	esv3529732	chr1:155659760-155664465	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
29	nsv514012	chr1:155659776-155664208	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 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	chr1:155656200-155660000	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr1:155656200-155660200	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr1:155656400-155660000	Active TSS	Fetal Kidney	kidney
4	chr1:155656400-155660200	Active TSS	HSMM	muscle
5	chr1:155656400-155660200	Active TSS	NHLF	lung
6	chr1:155656400-155660400	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr1:155656600-155660000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:155656600-155660000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:155656600-155660000	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr1:155656600-155660000	Active TSS	Duodenum Mucosa	Duodenum
11	chr1:155656600-155660000	Active TSS	A549	lung
12	chr1:155656600-155660000	Active TSS	Hela-S3	cervix
13	chr1:155656600-155660000	Active TSS	K562	blood
14	chr1:155656600-155660000	Active TSS	NHEK	skin
15	chr1:155656600-155660200	Active TSS	Muscle Satellite Cultured Cells	--
16	chr1:155656600-155660200	Active TSS	Rectal Smooth Muscle	rectum
17	chr1:155656800-155660200	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr1:155657200-155660000	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr1:155657200-155660200	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr1:155657200-155660400	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr1:155657400-155660000	Active TSS	H1 Cell Line	embryonic stem cell
22	chr1:155657400-155660000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:155657400-155660400	Active TSS	H9 Cell Line	embryonic stem cell
24	chr1:155657600-155660000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:155657600-155660000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:155657800-155660000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr1:155657800-155660000	Bivalent/Poised TSS	HepG2	liver
28	chr1:155658200-155660200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:155658800-155660000	Active TSS	Colonic Mucosa	Colon
30	chr1:155659000-155660000	Active TSS	Right Atrium	heart
31	chr1:155659000-155660200	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr1:155659200-155660400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:155659400-155660000	Weak transcription	Brain Substantia Nigra	brain
34	chr1:155659400-155660000	Weak transcription	Ovary	ovary
35	chr1:155659400-155660200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
36	chr1:155659400-155660200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:155659400-155660400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr1:155659400-155660600	Enhancers	Fetal Brain Male	brain
39	chr1:155659400-155668200	Weak transcription	Aorta	Aorta
40	chr1:155659600-155660000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr1:155659600-155660000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr1:155659600-155660000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:155659600-155660000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:155659600-155660000	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr1:155659600-155660000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr1:155659600-155660000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:155659600-155660000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr1:155659600-155660000	Flanking Active TSS	Gastric	stomach
49	chr1:155659600-155660200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:155659600-155660200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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