Variant report

Variant	rs564884241
Chromosome Location	chr1:155531750-155531751
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr1:155531340-155533480	SK-N-SH	brain:	n/a	n/a
2	YY1	chr1:155531736-155533218	HepG2	liver:	n/a	chr1:155531809-155531820 chr1:155532830-155532842 chr1:155532194-155532214 chr1:155532453-155532467 chr1:155532543-155532557
3	SPI1	chr1:155531627-155532255	GM12878	blood:	n/a	chr1:155531807-155531820
4	FOXM1	chr1:155531560-155532084	GM12878	blood:	n/a	n/a
5	PAX5	chr1:155531628-155531945	GM12878	blood:	n/a	n/a
6	POU2F2	chr1:155531300-155532151	GM12878	blood:	n/a	n/a
7	MXI1	chr1:155531719-155534158	SK-N-SH	brain:	n/a	n/a
8	ELF1	chr1:155531707-155533321	GM12878	blood:	n/a	chr1:155531774-155531785
9	TAF1	chr1:155531709-155533515	A549	lung:	n/a	n/a
10	YY1	chr1:155531734-155533380	GM12878	blood:	n/a	chr1:155531809-155531820 chr1:155532830-155532842 chr1:155532194-155532214 chr1:155532453-155532467 chr1:155532543-155532557
11	YY1	chr1:155531741-155533193	SK-N-SH_RA	brain:	n/a	chr1:155531809-155531820 chr1:155532830-155532842 chr1:155532194-155532214 chr1:155532453-155532467 chr1:155532543-155532557
12	PBX3	chr1:155531569-155531858	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:155531615-155533398	A549	lung:	n/a	n/a
14	HEY1	chr1:155531690-155531922	HepG2	liver:	n/a	n/a
15	BATF	chr1:155531493-155531877	GM12878	blood:	n/a	n/a
16	TAF1	chr1:155531709-155532644	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr1:155531682-155531943	MCF-7	breast:	n/a	n/a
18	RUNX3	chr1:155531733-155532176	GM12878	blood:	n/a	n/a
19	BCL11A	chr1:155531636-155531849	GM12878	blood:	n/a	n/a
20	POLR2A	chr1:155531346-155533461	ProgFib	skin:	n/a	n/a
21	POLR2A	chr1:155531041-155532198	GM12891	blood:	n/a	n/a
22	RXRA	chr1:155531502-155531822	GM12878	blood:	n/a	n/a
23	POLR2A	chr1:155530289-155534117	GM12878	blood:	n/a	n/a
24	POLR2A	chr1:155531325-155533473	GM12878	blood:	n/a	n/a
25	POU2F2	chr1:155531412-155532222	GM12891	blood:	n/a	n/a
26	YY1	chr1:155531735-155533292	GM12892	blood:	n/a	chr1:155531809-155531820 chr1:155532830-155532842 chr1:155532194-155532214 chr1:155532453-155532467 chr1:155532543-155532557
27	IRF4	chr1:155531262-155532003	GM12878	blood:	n/a	n/a
28	NFIC	chr1:155531459-155532099	GM12878	blood:	n/a	n/a
29	MYC	chr1:155531747-155531776	HUVEC	blood vessel:	n/a	n/a
30	TAF1	chr1:155531554-155532625	Hela-S3	cervix:	n/a	n/a
31	SP1	chr1:155531368-155531989	GM12878	blood:	n/a	chr1:155531717-155531731 chr1:155531811-155531820 chr1:155531810-155531824
32	TAF1	chr1:155531543-155533527	H1-hESC	embryonic stem cell:	n/a	n/a
33	SP1	chr1:155531498-155531976	GM12878	blood:	n/a	chr1:155531717-155531731 chr1:155531811-155531820 chr1:155531810-155531824
34	HEY1	chr1:155530426-155534124	K562	blood:	n/a	chr1:155532541-155532556
35	POLR2A	chr1:155531654-155531920	H1-hESC	embryonic stem cell:	n/a	n/a
36	TCF12	chr1:155531474-155531935	GM12878	blood:	n/a	n/a
37	POLR2A	chr1:155531282-155533498	SK-N-MC	brain:	n/a	n/a
38	YY1	chr1:155531649-155533492	A549	lung:	n/a	chr1:155531809-155531820 chr1:155532830-155532842 chr1:155532194-155532214 chr1:155532453-155532467 chr1:155532543-155532557
39	MXI1	chr1:155531726-155534096	IMR90	lung:	n/a	n/a
40	POLR2A	chr1:155531454-155533964	H1-hESC	embryonic stem cell:	n/a	n/a
41	HCFC1	chr1:155531741-155534118	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr1:155531469-155533551	K562	blood:	n/a	n/a
43	MYC	chr1:155531661-155531820	MCF-7	breast:	n/a	chr1:155531796-155531806
44	POLR2A	chr1:155531631-155533428	MCF-7	breast:	n/a	n/a
45	POLR2A	chr1:155531742-155533447	K562	blood:	n/a	n/a
46	IRF4	chr1:155531299-155532083	GM12878	blood:	n/a	n/a
47	POLR2A	chr1:155531325-155533504	Hela-S3	cervix:	n/a	n/a
48	PAX5	chr1:155531216-155532131	GM12878	blood:	n/a	n/a
49	RXRA	chr1:155531641-155531897	HepG2	liver:	n/a	n/a
50	TCF3	chr1:155531529-155531930	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:155291309..155295116-chr1:155530603..155535374,8	MCF-7	breast:
2	chr1:155530671..155532502-chr1:155535326..155537191,2	MCF-7	breast:
3	chr1:155292471..155294999-chr1:155531525..155533817,3	K562	blood:
4	chr1:155292200..155295685-chr1:155531348..155534529,4	MCF-7	breast:
5	chr1:154934930..154937896-chr1:155531349..155532999,2	K562	blood:
6	chr1:155256697..155258706-chr1:155531523..155534465,2	MCF-7	breast:
7	chr1:155530812..155532531-chr1:155657028..155659724,4	K562	blood:
8	chr1:155531220..155534536-chr1:155656727..155659727,4	MCF-7	breast:
9	chr1:155531168..155533264-chr1:155658199..155660031,3	MCF-7	breast:
10	chr1:155292800..155294999-chr1:155531525..155533061,2	K562	blood:

Variant related genes	Relation type
ASH1L-AS1	TF binding region
ENSG00000163374	Chromatin interaction
ENSG00000132676	Chromatin interaction
ENSG00000225855	Chromatin interaction
ENSG00000163348	Chromatin interaction
ENSG00000160753	Chromatin interaction
ENSG00000143630	Chromatin interaction
ENSG00000271267	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv1799856	chr1:155305059-155534616	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS 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 miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv1795662	chr1:155305059-155540660	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS 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 miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv872468	chr1:155413304-155549562	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers 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	33 gene(s)	inside rSNPs	diseases
6	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
7	nsv946417	chr1:155529941-155533143	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	n/a
8	esv3360327	chr1:155531253-155533876	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155526200-155531800	Weak transcription	Lung	lung
2	chr1:155529000-155534600	Active TSS	GM12878-XiMat	blood
3	chr1:155530200-155534800	Active TSS	HSMMtube	muscle
4	chr1:155530400-155531800	Active TSS	Brain Germinal Matrix	brain
5	chr1:155530400-155534400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:155530400-155534800	Active TSS	NHLF	lung
7	chr1:155530600-155531800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:155530600-155531800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:155530600-155531800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:155530600-155531800	Weak transcription	Ovary	ovary
11	chr1:155530600-155531800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:155530600-155531800	Weak transcription	Small Intestine	intestine
13	chr1:155530600-155531800	Weak transcription	Spleen	Spleen
14	chr1:155530600-155532000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:155530600-155532000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:155530600-155532000	Active TSS	HepG2	liver
17	chr1:155530600-155532800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:155530600-155533400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr1:155530600-155533400	Active TSS	Adipose Nuclei	Adipose
20	chr1:155530600-155533600	Active TSS	Primary hematopoietic stem cells	blood
21	chr1:155530600-155533600	Active TSS	Brain Anterior Caudate	brain
22	chr1:155530600-155533600	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr1:155530600-155533600	Active TSS	Fetal Brain Female	brain
24	chr1:155530600-155533600	Active TSS	Osteobl	bone
25	chr1:155530600-155533800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:155530600-155533800	Active TSS	Brain Angular Gyrus	brain
27	chr1:155530600-155533800	Active TSS	Brain Cingulate Gyrus	brain
28	chr1:155530600-155533800	Active TSS	Colon Smooth Muscle	Colon
29	chr1:155530600-155533800	Active TSS	Fetal Muscle Leg	muscle
30	chr1:155530600-155533800	Active TSS	Stomach Smooth Muscle	stomach
31	chr1:155530600-155533800	Active TSS	Thymus	Thymus
32	chr1:155530600-155534200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:155530600-155534200	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr1:155530600-155534200	Active TSS	Primary T cells from cord blood	blood
35	chr1:155530600-155534200	Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr1:155530600-155534200	Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr1:155530600-155534200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:155530600-155534200	Active TSS	Hela-S3	cervix
39	chr1:155530600-155534200	Active TSS	NHEK	skin
40	chr1:155530600-155534400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:155530600-155534400	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr1:155530600-155534400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:155530600-155534400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:155530600-155534400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:155530600-155534400	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr1:155530600-155534400	Active TSS	Muscle Satellite Cultured Cells	--
47	chr1:155530600-155534400	Active TSS	Duodenum Mucosa	Duodenum
48	chr1:155530600-155534400	Active TSS	Fetal Intestine Large	intestine
49	chr1:155530600-155534400	Active TSS	Fetal Kidney	kidney
50	chr1:155530600-155534400	Active TSS	Pancreatic Islets	Pancreatic Islet

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