Variant report

Variant	rs367329
Chromosome Location	chr1:155531435-155531436
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

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	POU2F2	chr1:155531300-155532151	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:155531404-155531541	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr1:155531346-155533461	ProgFib	skin:	n/a	n/a
5	POLR2A	chr1:155531041-155532198	GM12891	blood:	n/a	n/a
6	POLR2A	chr1:155530289-155534117	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:155531325-155533473	GM12878	blood:	n/a	n/a
8	POU2F2	chr1:155531412-155532222	GM12891	blood:	n/a	n/a
9	IRF4	chr1:155531262-155532003	GM12878	blood:	n/a	n/a
10	SP1	chr1:155531368-155531989	GM12878	blood:	n/a	chr1:155531717-155531731 chr1:155531811-155531820 chr1:155531810-155531824
11	HEY1	chr1:155530426-155534124	K562	blood:	n/a	chr1:155532541-155532556
12	POLR2A	chr1:155531282-155533498	SK-N-MC	brain:	n/a	n/a
13	IRF4	chr1:155531299-155532083	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:155531325-155533504	Hela-S3	cervix:	n/a	n/a
15	PAX5	chr1:155531216-155532131	GM12878	blood:	n/a	n/a
16	POLR2A	chr1:155531394-155532038	MCF-7	breast:	n/a	n/a
17	BCL11A	chr1:155531434-155531867	GM12878	blood:	n/a	n/a
18	POLR2A	chr1:155531030-155533584	GM12891	blood:	n/a	n/a
19	CBX3	chr1:155531061-155531926	K562	blood:	n/a	n/a
20	POLR2A	chr1:155531398-155532082	H1-hESC	embryonic stem cell:	n/a	n/a
21	EBF1	chr1:155531426-155531651	GM12878	blood:	n/a	n/a
22	HEY1	chr1:155531335-155532225	K562	blood:	n/a	n/a
23	POLR2A	chr1:155531434-155531459	HepG2	liver:	n/a	n/a
24	POLR2A	chr1:155531352-155532149	GM12892	blood:	n/a	n/a
25	POLR2A	chr1:155530275-155532622	GM12878	blood:	n/a	n/a
26	POLR2A	chr1:155531017-155534142	GM12892	blood:	n/a	n/a
27	POLR2A	chr1:155531204-155534115	Hela-S3	cervix:	n/a	n/a
28	MYC	chr1:155531419-155531447	HUVEC	blood vessel:	n/a	n/a
29	NR2F2	chr1:155530912-155532262	K562	blood:	n/a	n/a
30	POLR2A	chr1:155531280-155532225	GM12891	blood:	n/a	n/a
31	POLR2A	chr1:155531305-155533455	GM12878	blood:	n/a	n/a
32	POLR2A	chr1:155531093-155533751	GM12892	blood:	n/a	n/a
33	POLR2A	chr1:155531104-155532230	GM12891	blood:	n/a	n/a
34	POLR2A	chr1:155531402-155534238	PFSK-1	brain:	n/a	n/a
35	POLR2A	chr1:155531111-155534117	GM12892	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

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	chr1:155292200..155295685-chr1:155531348..155534529,4	MCF-7	breast:
4	chr1:154934930..154937896-chr1:155531349..155532999,2	K562	blood:
5	chr1:155530812..155532531-chr1:155657028..155659724,4	K562	blood:
6	chr1:155520429..155523505-chr1:155527684..155531607,4	K562	blood:
7	chr1:155531220..155534536-chr1:155656727..155659727,4	MCF-7	breast:
8	chr1:155531168..155533264-chr1:155658199..155660031,3	MCF-7	breast:

No data

Variant related genes	Relation type
ASH1L-AS1	TF binding region
ENSG00000160753	Chromatin interaction
ENSG00000132676	Chromatin interaction
ENSG00000225855	Chromatin interaction
ENSG00000271267	Chromatin interaction
ENSG00000163374	Chromatin interaction
ENSG00000163348	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	chr1:155518200-155531600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:155526200-155531600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:155526200-155531800	Weak transcription	Lung	lung
4	chr1:155529000-155534600	Active TSS	GM12878-XiMat	blood
5	chr1:155530200-155534800	Active TSS	HSMMtube	muscle
6	chr1:155530400-155531800	Active TSS	Brain Germinal Matrix	brain
7	chr1:155530400-155534400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:155530400-155534800	Active TSS	NHLF	lung
9	chr1:155530600-155531600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr1:155530600-155531600	Weak transcription	Gastric	stomach
11	chr1:155530600-155531800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr1:155530600-155531800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr1:155530600-155531800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:155530600-155531800	Weak transcription	Ovary	ovary
15	chr1:155530600-155531800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:155530600-155531800	Weak transcription	Small Intestine	intestine
17	chr1:155530600-155531800	Weak transcription	Spleen	Spleen
18	chr1:155530600-155532000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:155530600-155532000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:155530600-155532000	Active TSS	HepG2	liver
21	chr1:155530600-155532800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:155530600-155533400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr1:155530600-155533400	Active TSS	Adipose Nuclei	Adipose
24	chr1:155530600-155533600	Active TSS	Primary hematopoietic stem cells	blood
25	chr1:155530600-155533600	Active TSS	Brain Anterior Caudate	brain
26	chr1:155530600-155533600	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr1:155530600-155533600	Active TSS	Fetal Brain Female	brain
28	chr1:155530600-155533600	Active TSS	Osteobl	bone
29	chr1:155530600-155533800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:155530600-155533800	Active TSS	Brain Angular Gyrus	brain
31	chr1:155530600-155533800	Active TSS	Brain Cingulate Gyrus	brain
32	chr1:155530600-155533800	Active TSS	Colon Smooth Muscle	Colon
33	chr1:155530600-155533800	Active TSS	Fetal Muscle Leg	muscle
34	chr1:155530600-155533800	Active TSS	Stomach Smooth Muscle	stomach
35	chr1:155530600-155533800	Active TSS	Thymus	Thymus
36	chr1:155530600-155534200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:155530600-155534200	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr1:155530600-155534200	Active TSS	Primary T cells from cord blood	blood
39	chr1:155530600-155534200	Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr1:155530600-155534200	Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr1:155530600-155534200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:155530600-155534200	Active TSS	Hela-S3	cervix
43	chr1:155530600-155534200	Active TSS	NHEK	skin
44	chr1:155530600-155534400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:155530600-155534400	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr1:155530600-155534400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:155530600-155534400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:155530600-155534400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:155530600-155534400	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr1:155530600-155534400	Active TSS	Muscle Satellite Cultured Cells	--

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