Variant report

Variant	rs541191259
Chromosome Location	chr15:40762546-40762547
allele	C/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	POLR2A	chr15:40762249-40763049	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr15:40762397-40764353	HepG2	liver:	n/a	chr15:40762698-40762707 chr15:40763164-40763174
3	POLR2A	chr15:40762141-40763161	GM12891	blood:	n/a	n/a
4	ZBTB7A	chr15:40762423-40764538	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr15:40762156-40764091	GM12892	blood:	n/a	n/a
6	MAX	chr15:40762524-40763308	K562	blood:	n/a	chr15:40762698-40762707 chr15:40763164-40763174
7	CEBPB	chr15:40762504-40762871	K562	blood:	n/a	chr15:40762676-40762687
8	POLR2A	chr15:40762275-40763451	MCF-7	breast:	n/a	n/a
9	POLR2A	chr15:40762146-40763153	GM12892	blood:	n/a	n/a
10	MTA3	chr15:40762459-40763191	GM12878	blood:	n/a	n/a
11	MAX	chr15:40762502-40763210	HepG2	liver:	n/a	chr15:40762698-40762707 chr15:40763164-40763174
12	POLR2A	chr15:40762124-40764649	HepG2	liver:	n/a	n/a
13	ELF1	chr15:40762475-40763241	HepG2	liver:	n/a	chr15:40763055-40763066
14	CEBPB	chr15:40762543-40762812	K562	blood:	n/a	chr15:40762676-40762687
15	POLR2A	chr15:40762194-40763079	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr15:40762116-40764390	K562	blood:	n/a	n/a
17	POLR2A	chr15:40762287-40762626	GM12878	blood:	n/a	n/a
18	MAX	chr15:40762214-40763305	K562	blood:	n/a	chr15:40762698-40762707 chr15:40763164-40763174
19	MAX	chr15:40762529-40764286	NB4	blood:	n/a	chr15:40762698-40762707 chr15:40763164-40763174
20	NFATC1	chr15:40762314-40762831	GM12878	blood:	n/a	n/a
21	HCFC1	chr15:40762543-40763071	K562	blood:	n/a	n/a
22	POLR2A	chr15:40762263-40762563	GM12878	blood:	n/a	n/a
23	TEAD4	chr15:40762431-40763115	K562	blood:	n/a	n/a
24	MAZ	chr15:40761986-40764139	IMR90	lung:	n/a	chr15:40762698-40762707 chr15:40763164-40763174
25	POLR2A	chr15:40760705-40763222	K562	blood:	n/a	n/a
26	CEBPB	chr15:40762493-40762862	HepG2	liver:	n/a	chr15:40762676-40762687
27	POLR2A	chr15:40761478-40764066	PFSK-1	brain:	n/a	n/a
28	CEBPB	chr15:40762456-40762900	K562	blood:	n/a	chr15:40762676-40762687
29	POLR2A	chr15:40762242-40763272	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr15:40762478-40762943	H1-neurons	neurons:	n/a	n/a
31	PML	chr15:40762476-40763204	GM12878	blood:	n/a	n/a
32	POLR2A	chr15:40762381-40763156	GM12891	blood:	n/a	n/a
33	POLR2A	chr15:40761894-40763915	PANC-1	pancreas:	n/a	n/a
34	POLR2A	chr15:40762439-40763315	HUVEC	blood vessel:	n/a	n/a
35	CEBPB	chr15:40762528-40762820	ECC-1	luminal epithelium:	n/a	chr15:40762676-40762687
36	POLR2A	chr15:40762047-40763141	SK-N-MC	brain:	n/a	n/a
37	RCOR1	chr15:40762519-40762768	K562	blood:	n/a	n/a
38	CEBPB	chr15:40762503-40762881	HepG2	liver:	n/a	chr15:40762676-40762687
39	POLR2A	chr15:40762449-40763165	HepG2	liver:	n/a	n/a
40	CEBPB	chr15:40762503-40762871	Hela-S3	cervix:	n/a	chr15:40762676-40762687
41	POLR2A	chr15:40762364-40763179	U87	brain:	n/a	n/a
42	POLR2A	chr15:40762539-40763164	HepG2	liver:	n/a	n/a
43	ELF1	chr15:40762546-40763305	MCF-7	breast:	n/a	chr15:40763055-40763066
44	NFYA	chr15:40762388-40762588	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr15:40762418-40762592	Hela-S3	cervix:	n/a	n/a
46	MYC	chr15:40762457-40764136	NB4	blood:	n/a	chr15:40762698-40762707 chr15:40763164-40763174
47	POLR2A	chr15:40762441-40764095	GM12878	blood:	n/a	n/a
48	POLR2A	chr15:40762331-40764539	Raji	blood:	n/a	n/a
49	POLR2A	chr15:40762098-40763323	GM12878	blood:	n/a	n/a
50	MTA3	chr15:40762545-40763123	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:40731621..40739951-chr15:40753297..40765462,23	K562	blood:
2	chr15:40757114..40759999-chr15:40761935..40763724,3	MCF-7	breast:
3	chr15:40746042..40747567-chr15:40761663..40764195,2	MCF-7	breast:
4	chr15:40761789..40767637-chr15:40797359..40801640,7	K562	blood:
5	chr15:40731794..40734704-chr15:40761511..40763222,2	MCF-7	breast:
6	chr15:40731823..40734826-chr15:40760868..40766207,7	K562	blood:
7	chr15:40761396..40764374-chr15:40800140..40802676,2	K562	blood:
8	chr15:40749483..40752811-chr15:40761476..40764713,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259211	TF binding region
CHST14	TF binding region
ENSG00000259211	Chromatin interaction
ENSG00000140320	Chromatin interaction
ENSG00000259536	Chromatin interaction
ENSG00000259364	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv3373294	chr15:40762085-40765033	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv3525241	chr15:40762460-40764458	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	esv3525242	chr15:40762460-40764458	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 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	chr15:40747400-40762600	Weak transcription	HUVEC	blood vessel
2	chr15:40749200-40762600	Weak transcription	Psoas Muscle	Psoas
3	chr15:40749200-40762800	Weak transcription	Small Intestine	intestine
4	chr15:40758600-40762600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr15:40759000-40762600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr15:40759200-40762600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr15:40759400-40762600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr15:40759400-40763400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr15:40759600-40762600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr15:40759600-40762600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr15:40759600-40762600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr15:40759600-40762600	Weak transcription	Ovary	ovary
13	chr15:40759600-40762600	Weak transcription	GM12878-XiMat	blood
14	chr15:40759800-40762600	Weak transcription	Fetal Thymus	thymus
15	chr15:40759800-40762600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr15:40760000-40762600	Weak transcription	HSMMtube	muscle
17	chr15:40760200-40762600	Weak transcription	Thymus	Thymus
18	chr15:40760600-40762600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr15:40760800-40762600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr15:40760800-40762600	Enhancers	K562	blood
21	chr15:40761000-40762600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr15:40761200-40762800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr15:40761200-40762800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr15:40761200-40762800	Enhancers	NHEK	skin
25	chr15:40761400-40762800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr15:40761600-40762600	Weak transcription	HMEC	breast
27	chr15:40761600-40763800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr15:40761800-40762600	Enhancers	Primary hematopoietic stem cells	blood
29	chr15:40761800-40762800	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr15:40761800-40763000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr15:40762000-40762600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr15:40762000-40762600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr15:40762000-40762600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr15:40762000-40762800	Enhancers	HSMM	muscle
35	chr15:40762000-40763000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr15:40762200-40762600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr15:40762200-40762600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr15:40762200-40762600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr15:40762200-40762600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr15:40762200-40762600	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr15:40762200-40762600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr15:40762200-40762600	Enhancers	Colon Smooth Muscle	Colon
43	chr15:40762200-40762600	Enhancers	Fetal Brain Male	brain
44	chr15:40762200-40762600	Enhancers	Placenta	Placenta
45	chr15:40762200-40762600	Enhancers	Fetal Stomach	stomach
46	chr15:40762200-40762600	Enhancers	Placenta Amnion	Placenta Amnion
47	chr15:40762200-40762600	Enhancers	Stomach Mucosa	stomach
48	chr15:40762200-40762600	Enhancers	Dnd41	blood
49	chr15:40762200-40762600	Enhancers	NH-A	brain
50	chr15:40762200-40762800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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