Variant report

Variant	rs567345955
Chromosome Location	chr15:43802368-43802369
allele	C/G
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	YY1	chr15:43802312-43803181	SK-N-SH	brain:	n/a	chr15:43803054-43803065 chr15:43803051-43803065
2	NR2F2	chr15:43801970-43803494	K562	blood:	n/a	n/a
3	POLR2A	chr15:43801831-43803564	U87	brain:	n/a	n/a
4	MYC	chr15:43801889-43804027	NB4	blood:	n/a	chr15:43802987-43802997
5	CTCF	chr15:43802340-43802490	NHEK	skin:	n/a	n/a
6	POLR2A	chr15:43802348-43803177	K562	blood:	n/a	n/a
7	MAZ	chr15:43801988-43803525	K562	blood:	n/a	chr15:43802987-43802997
8	CTCF	chr15:43802360-43802510	GM12868	blood:	n/a	n/a
9	POLR2A	chr15:43801796-43803795	K562	blood:	n/a	n/a
10	EP300	chr15:43802019-43803267	K562	blood:	n/a	chr15:43803049-43803065
11	MAX	chr15:43802311-43804023	K562	blood:	n/a	chr15:43802987-43802997
12	UBTF	chr15:43801956-43803428	K562	blood:	n/a	n/a
13	CEBPD	chr15:43802339-43803065	K562	blood:	n/a	n/a
14	RCOR1	chr15:43801818-43804089	K562	blood:	n/a	n/a
15	CTCF	chr15:43801842-43804325	SK-N-SH	brain:	n/a	chr15:43803948-43803961 chr15:43803106-43803119
16	CTCF	chr15:43802360-43802510	GM12873	blood:	n/a	n/a
17	POLR2A	chr15:43801825-43803570	U87	brain:	n/a	n/a
18	E2F4	chr15:43802176-43803373	K562	blood:	n/a	chr15:43803109-43803119 chr15:43803093-43803102
19	CTCF	chr15:43802320-43802470	RPTEC	kidney:	n/a	n/a
20	POLR2A	chr15:43802367-43803108	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr15:43802268-43804182	H1-neurons	neurons:	n/a	n/a
22	SIN3A	chr15:43802168-43804075	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr15:43801837-43803537	U87	brain:	n/a	n/a
24	CTCF	chr15:43802237-43802655	K562	blood:	n/a	n/a
25	CTCF	chr15:43802280-43802430	WI-38	lung:	n/a	n/a
26	CTCF	chr15:43802320-43802470	BJ	skin:	n/a	n/a
27	YY1	chr15:43802355-43803311	GM12891	blood:	n/a	chr15:43803054-43803065 chr15:43803051-43803065
28	CTCF	chr15:43802360-43802510	HVMF	connective:	n/a	n/a
29	CTCF	chr15:43802360-43802510	NHLF	lung:	n/a	n/a
30	POLR2A	chr15:43802292-43803377	K562	blood:	n/a	n/a
31	TAF1	chr15:43802354-43803426	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr15:43802036-43803560	K562	blood:	n/a	n/a
33	RAD21	chr15:43802338-43802589	K562	blood:	n/a	n/a
34	CTCF	chr15:43802360-43802510	GM12878	blood:	n/a	n/a
35	MAX	chr15:43802331-43802677	K562	blood:	n/a	n/a
36	EP300	chr15:43802366-43803278	SK-N-SH_RA	brain:	n/a	chr15:43803049-43803065
37	TEAD4	chr15:43801892-43803529	K562	blood:	n/a	n/a
38	CTCF	chr15:43802360-43802510	HEK293	kidney:	n/a	n/a
39	POLR2A	chr15:43802243-43803636	SK-N-MC	brain:	n/a	n/a
40	MAX	chr15:43801195-43804108	NB4	blood:	n/a	chr15:43802987-43802997 chr15:43801254-43801263
41	BHLHE40	chr15:43802159-43803456	K562	blood:	n/a	chr15:43803043-43803059 chr15:43803104-43803120 chr15:43803048-43803064
42	CBX3	chr15:43802308-43803575	K562	blood:	n/a	n/a
43	MAX	chr15:43801974-43803316	K562	blood:	n/a	chr15:43802987-43802997
44	GATA3	chr15:43802238-43803208	SK-N-SH	brain:	n/a	n/a
45	CTCF	chr15:43802360-43802510	HCT-116	colon:	n/a	n/a
46	CTCF	chr15:43802360-43802510	HFF-Myc	foreskin:	n/a	n/a
47	CTCF	chr15:43802340-43802490	GM12865	blood:	n/a	n/a
48	GATA3	chr15:43802148-43803349	SK-N-SH	brain:	n/a	n/a
49	POLR2A	chr15:43802172-43803416	H1-hESC	embryonic stem cell:	n/a	n/a
50	JUND	chr15:43801920-43804109	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:43784031..43792065-chr15:43801022..43804774,10	K562	blood:
2	chr15:43662206..43664068-chr15:43799780..43802571,2	K562	blood:
3	chr15:43801353..43803228-chr15:44084383..44086214,2	K562	blood:
4	15:43792489-43802874..15:44074989-44078735	K562	blood:
5	chr15:43783239..43787260-chr15:43801022..43804758,8	K562	blood:
6	chr15:43784964..43786568-chr15:43801519..43804251,2	MCF-7	breast:
7	chr15:43800445..43802853-chr15:44084383..44085884,2	K562	blood:
8	15:43792489-43802874..15:44001645-44015047	GM12878	blood:
9	chr15:43770091..43773050-chr15:43800972..43802539,2	K562	blood:
10	chr15:43729891..43732204-chr15:43801594..43804283,2	K562	blood:
11	chr15:43621078..43623590-chr15:43801793..43804270,2	MCF-7	breast:
12	chr11:59435931..59436776-chr15:43802144..43802835,2	NB4	blood:

Variant related genes	Relation type
MAP1A	TF binding region
ENSG00000238494	Chromatin interaction
ENSG00000268488	Chromatin interaction
ENSG00000140265	Chromatin interaction
ENSG00000168806	Chromatin interaction
ENSG00000067369	Chromatin interaction
ENSG00000242866	Chromatin interaction
ENSG00000168803	Chromatin interaction
ENSG00000221792	Chromatin interaction
ENSG00000166763	Chromatin interaction
ENSG00000166889	Chromatin interaction
ENSG00000140264	Chromatin interaction
ENSG00000137822	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534649	chr15:43591116-43851142	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv1846172	chr15:43632138-44116986	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	esv1846701	chr15:43759774-44116986	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv437799	chr15:43784000-43989518	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv515877	chr15:43802024-43818052	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv518707	chr15:43802024-43826557	Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43800800-43802400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:43800800-43802800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr15:43801000-43802400	Flanking Active TSS	Brain Anterior Caudate	brain
4	chr15:43801000-43802400	Flanking Active TSS	Fetal Brain Female	brain
5	chr15:43801000-43802600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr15:43801000-43802800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
7	chr15:43801000-43802800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr15:43801000-43804200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr15:43801200-43802400	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr15:43801200-43802400	Enhancers	Fetal Intestine Small	intestine
11	chr15:43801400-43802400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:43801400-43802400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr15:43801400-43802400	Enhancers	Placenta	Placenta
14	chr15:43801400-43802800	Flanking Active TSS	Dnd41	blood
15	chr15:43801600-43802600	Enhancers	Placenta Amnion	Placenta Amnion
16	chr15:43801600-43802800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr15:43801600-43802800	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr15:43801600-43803000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr15:43801600-43803400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr15:43801600-43803600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:43801600-43803600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr15:43801800-43802400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr15:43801800-43802400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr15:43801800-43802400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr15:43801800-43802400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr15:43801800-43802400	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr15:43801800-43802400	Weak transcription	Ovary	ovary
28	chr15:43801800-43802400	Flanking Active TSS	NHLF	lung
29	chr15:43801800-43802600	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr15:43801800-43802800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr15:43801800-43802800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:43801800-43802800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr15:43801800-43802800	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr15:43801800-43803400	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr15:43801800-43803400	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr15:43802000-43802400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr15:43802000-43802400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr15:43802000-43802400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr15:43802000-43802400	Enhancers	Primary B cells from cord blood	blood
40	chr15:43802000-43802400	Enhancers	Primary B cells from peripheral blood	blood
41	chr15:43802000-43802400	Enhancers	Primary hematopoietic stem cells	blood
42	chr15:43802000-43802400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr15:43802000-43802400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr15:43802000-43802400	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr15:43802000-43802400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr15:43802000-43802400	Flanking Active TSS	Fetal Lung	lung
47	chr15:43802000-43802400	Flanking Active TSS	Fetal Stomach	stomach
48	chr15:43802000-43802400	Enhancers	Stomach Mucosa	stomach
49	chr15:43802000-43802400	Flanking Active TSS	Thymus	Thymus
50	chr15:43802000-43802400	Enhancers	Spleen	Spleen

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