Variant report

Variant	rs541021894
Chromosome Location	chr15:43802564-43802565
allele	A/T
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	CTCF	chr15:43802440-43802590	HEEpiC	esophagus:	n/a	n/a
2	YY1	chr15:43802372-43803084	H1-hESC	embryonic stem cell:	n/a	chr15:43803054-43803065 chr15:43803051-43803065
3	YY1	chr15:43802312-43803181	SK-N-SH	brain:	n/a	chr15:43803054-43803065 chr15:43803051-43803065
4	ARID3A	chr15:43802464-43802872	K562	blood:	n/a	n/a
5	YY1	chr15:43802508-43803060	A549	lung:	n/a	n/a
6	GATA2	chr15:43802422-43802977	HUVEC	blood vessel:	n/a	n/a
7	CTCF	chr15:43802460-43802610	HUVEC	blood vessel:	n/a	n/a
8	CTCF	chr15:43802460-43802610	GM12874	blood:	n/a	n/a
9	CTCF	chr15:43802420-43802570	HBMEC	blood vessel:	n/a	n/a
10	NR2F2	chr15:43801970-43803494	K562	blood:	n/a	n/a
11	POLR2A	chr15:43801831-43803564	U87	brain:	n/a	n/a
12	CTCF	chr15:43802420-43802570	AoAF	blood vessel:	n/a	n/a
13	MYC	chr15:43801889-43804027	NB4	blood:	n/a	chr15:43802987-43802997
14	POLR2A	chr15:43802348-43803177	K562	blood:	n/a	n/a
15	MAZ	chr15:43801988-43803525	K562	blood:	n/a	chr15:43802987-43802997
16	SMC3	chr15:43802417-43802687	K562	blood:	n/a	n/a
17	CTCF	chr15:43802420-43802570	AG04449	skin:	n/a	n/a
18	POLR2A	chr15:43802398-43803253	PANC-1	pancreas:	n/a	n/a
19	MXI1	chr15:43802544-43803554	GM12878	blood:	n/a	n/a
20	CTCF	chr15:43802560-43802710	HCM	heart:	n/a	n/a
21	POLR2A	chr15:43801796-43803795	K562	blood:	n/a	n/a
22	CTCF	chr15:43802379-43802614	K562	blood:	n/a	n/a
23	POLR2A	chr15:43802493-43802576	Hela-S3	cervix:	n/a	n/a
24	EP300	chr15:43802019-43803267	K562	blood:	n/a	chr15:43803049-43803065
25	MAX	chr15:43802311-43804023	K562	blood:	n/a	chr15:43802987-43802997
26	SP1	chr15:43802386-43803485	H1-hESC	embryonic stem cell:	n/a	chr15:43803072-43803082 chr15:43803050-43803059 chr15:43803049-43803061 chr15:43803072-43803082 chr15:43802982-43802996 chr15:43802926-43802937 chr15:43802928-43802937 chr15:43802974-43802984 chr15:43802927-43802937
27	UBTF	chr15:43801956-43803428	K562	blood:	n/a	n/a
28	HDAC2	chr15:43802416-43802948	K562	blood:	n/a	n/a
29	CEBPD	chr15:43802339-43803065	K562	blood:	n/a	n/a
30	RCOR1	chr15:43801818-43804089	K562	blood:	n/a	n/a
31	CTCF	chr15:43801842-43804325	SK-N-SH	brain:	n/a	chr15:43803948-43803961 chr15:43803106-43803119
32	YY1	chr15:43802507-43803313	K562	blood:	n/a	chr15:43803054-43803065 chr15:43803051-43803065
33	POLR2A	chr15:43801825-43803570	U87	brain:	n/a	n/a
34	POLR2A	chr15:43802412-43803144	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr15:43802420-43802570	GM12872	blood:	n/a	n/a
36	E2F4	chr15:43802176-43803373	K562	blood:	n/a	chr15:43803109-43803119 chr15:43803093-43803102
37	YY1	chr15:43802464-43803432	HepG2	liver:	n/a	chr15:43803054-43803065 chr15:43803051-43803065
38	YY1	chr15:43802396-43803447	SK-N-SH_RA	brain:	n/a	chr15:43803054-43803065 chr15:43803051-43803065
39	POLR2A	chr15:43802387-43803189	K562	blood:	n/a	n/a
40	POLR2A	chr15:43802367-43803108	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr15:43802474-43803242	HepG2	liver:	n/a	n/a
42	POLR2A	chr15:43802268-43804182	H1-neurons	neurons:	n/a	n/a
43	TBP	chr15:43802488-43803317	HepG2	liver:	n/a	n/a
44	SIN3A	chr15:43802168-43804075	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr15:43801837-43803537	U87	brain:	n/a	n/a
46	RAD21	chr15:43802403-43802696	Hela-S3	cervix:	n/a	n/a
47	GATA1	chr15:43802461-43803325	PBDE	blood:	n/a	n/a
48	CTCF	chr15:43802237-43802655	K562	blood:	n/a	n/a
49	GTF2F1	chr15:43802493-43803231	H1-hESC	embryonic stem cell:	n/a	n/a
50	YY1	chr15:43802519-43803347	GM12878	blood:	n/a	chr15:43803054-43803065 chr15:43803051-43803065

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	chr15:43729891..43732204-chr15:43801594..43804283,2	K562	blood:
10	chr15:43621078..43623590-chr15:43801793..43804270,2	MCF-7	breast:
11	chr11:59435931..59436776-chr15:43802144..43802835,2	NB4	blood:

Variant related genes	Relation type
MAP1A	TF binding region
ENSG00000242866	Chromatin interaction
ENSG00000168806	Chromatin interaction
ENSG00000268488	Chromatin interaction
ENSG00000238494	Chromatin interaction
ENSG00000221792	Chromatin interaction
ENSG00000140265	Chromatin interaction
ENSG00000137822	Chromatin interaction
ENSG00000166889	Chromatin interaction
ENSG00000168803	Chromatin interaction
ENSG00000067369	Chromatin interaction
ENSG00000140264	Chromatin interaction
ENSG00000166763	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43800800-43802800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr15:43801000-43802600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr15:43801000-43802800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
4	chr15:43801000-43802800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr15:43801000-43804200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr15:43801400-43802800	Flanking Active TSS	Dnd41	blood
7	chr15:43801600-43802600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr15:43801600-43802800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr15:43801600-43802800	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr15:43801600-43803000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:43801600-43803400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr15:43801600-43803600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr15:43801600-43803600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr15:43801800-43802600	Flanking Active TSS	Brain Germinal Matrix	brain
15	chr15:43801800-43802800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr15:43801800-43802800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr15:43801800-43802800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:43801800-43802800	Flanking Active TSS	Fetal Muscle Leg	muscle
19	chr15:43801800-43803400	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr15:43801800-43803400	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr15:43802000-43802600	Enhancers	Aorta	Aorta
22	chr15:43802000-43802600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr15:43802000-43802600	Flanking Active TSS	Fetal Thymus	thymus
24	chr15:43802000-43802600	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr15:43802000-43802800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr15:43802000-43802800	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr15:43802000-43802800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr15:43802000-43802800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr15:43802000-43802800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr15:43802000-43802800	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr15:43802000-43802800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr15:43802000-43802800	Flanking Active TSS	Hela-S3	cervix
33	chr15:43802000-43802800	Flanking Active TSS	NH-A	brain
34	chr15:43802000-43802800	Flanking Active TSS	Osteobl	bone
35	chr15:43802000-43803200	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr15:43802000-43803400	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr15:43802000-43803400	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr15:43802000-43803400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr15:43802000-43803400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr15:43802000-43803400	Active TSS	Brain Angular Gyrus	brain
41	chr15:43802000-43803400	Active TSS	Colonic Mucosa	Colon
42	chr15:43802000-43803600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr15:43802000-43803600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr15:43802000-43803800	Active TSS	H9 Cell Line	embryonic stem cell
45	chr15:43802200-43802600	Flanking Active TSS	Fetal Intestine Large	intestine
46	chr15:43802200-43802800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr15:43802200-43802800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr15:43802200-43802800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr15:43802200-43802800	Flanking Active TSS	Liver	Liver
50	chr15:43802200-43802800	Flanking Active TSS	HMEC	breast

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