Variant report

Variant	rs529019346
Chromosome Location	chr15:56535080-56535081
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	chr15:56534953-56537028	H1-neurons	neurons:	n/a	n/a
2	RCOR1	chr15:56534834-56538657	K562	blood:	n/a	n/a
3	MXI1	chr15:56534731-56537540	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr15:56535068-56535221	H1-hESC	embryonic stem cell:	n/a	n/a
5	MYC	chr15:56534835-56536758	NB4	blood:	n/a	chr15:56535837-56535847 chr15:56535242-56535252
6	CTCF	chr15:56535080-56535230	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr15:56534851-56538643	GM12878	blood:	n/a	n/a
8	TBL1XR1	chr15:56534809-56535200	K562	blood:	n/a	n/a
9	POLR2A	chr15:56534844-56535221	HepG2	liver:	n/a	n/a
10	MXI1	chr15:56534919-56535383	Hela-S3	cervix:	n/a	n/a
11	MAZ	chr15:56534992-56536354	Hela-S3	cervix:	n/a	chr15:56535837-56535847 chr15:56535242-56535252
12	POLR2A	chr15:56534885-56536591	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr15:56534875-56538524	GM19099	blood:	n/a	n/a
14	RFX5	chr15:56534502-56539161	SK-N-SH	brain:	n/a	chr15:56537356-56537365 chr15:56538106-56538122
15	POLR2A	chr15:56534991-56537047	NB4	blood:	n/a	n/a
16	REST	chr15:56534615-56537411	H1-neurons	neurons:	n/a	chr15:56535957-56535970 chr15:56535948-56535961 chr15:56535954-56535967 chr15:56535756-56535766
17	TAF1	chr15:56534963-56535230	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr15:56534993-56537513	K562	blood:	n/a	n/a
19	CHD1	chr15:56534856-56535219	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr15:56534821-56535506	H1-hESC	embryonic stem cell:	n/a	n/a
21	MYC	chr15:56534977-56535358	K562	blood:	n/a	chr15:56535242-56535252
22	TBP	chr15:56534999-56536994	H1-hESC	embryonic stem cell:	n/a	n/a
23	ZMIZ1	chr15:56534900-56535222	K562	blood:	n/a	n/a
24	ZBTB7A	chr15:56535060-56536081	ECC-1	luminal epithelium:	n/a	chr15:56535850-56535864 chr15:56535518-56535527
25	UBTF	chr15:56535029-56536812	K562	blood:	n/a	n/a
26	TAF7	chr15:56534898-56535884	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr15:56535061-56538547	GM12892	blood:	n/a	n/a
28	POLR2A	chr15:56534925-56536323	H1-neurons	neurons:	n/a	n/a
29	POLR2A	chr15:56535044-56535231	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr15:56535034-56538561	GM15510	blood:	n/a	n/a
31	BACH1	chr15:56535051-56535346	H1-hESC	embryonic stem cell:	n/a	n/a
32	MXI1	chr15:56534345-56537208	IMR90	lung:	n/a	n/a
33	MAZ	chr15:56534851-56537737	K562	blood:	n/a	chr15:56537486-56537493 chr15:56537485-56537494 chr15:56537502-56537512 chr15:56535837-56535847 chr15:56535242-56535252
34	POLR2A	chr15:56534914-56535099	MCF10A-Er-Src	breast:	n/a	n/a
35	TAF1	chr15:56534960-56536287	H1-neurons	neurons:	n/a	n/a
36	TBL1XR1	chr15:56535062-56535350	GM12878	blood:	n/a	n/a
37	POLR2A	chr15:56534855-56538616	Raji	blood:	n/a	n/a
38	ZNF143	chr15:56534884-56535776	GM12878	blood:	n/a	chr15:56535242-56535252
39	TAF1	chr15:56535080-56535267	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr15:56535073-56535553	SK-N-MC	brain:	n/a	n/a
41	MAX	chr15:56534832-56536863	NB4	blood:	n/a	chr15:56535837-56535847 chr15:56535242-56535252
42	SIN3A	chr15:56534920-56536860	H1-hESC	embryonic stem cell:	n/a	chr15:56536068-56536079 chr15:56535751-56535762 chr15:56535485-56535496 chr15:56536112-56536123 chr15:56535797-56535810
43	POLR2A	chr15:56535047-56538644	GM18505	blood:	n/a	n/a
44	POLR2A	chr15:56534821-56538802	GM12891	blood:	n/a	n/a
45	CTCF	chr15:56534671-56539436	A549	lung:	n/a	chr15:56538386-56538394 chr15:56538415-56538433 chr15:56538382-56538398 chr15:56538381-56538399 chr15:56535756-56535769 chr15:56538416-56538432 chr15:56538383-56538404
46	MAZ	chr15:56534732-56537856	GM12878	blood:	n/a	chr15:56537486-56537493 chr15:56537485-56537494 chr15:56537502-56537512 chr15:56535837-56535847 chr15:56535242-56535252
47	POLR2A	chr15:56534970-56538566	GM18951	blood:	n/a	n/a
48	POLR2A	chr15:56535060-56537253	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr15:56534763-56535151	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:56282050..56287467-chr15:56534024..56538662,8	MCF-7	breast:
2	chr15:56285499..56287418-chr15:56534884..56536553,2	K562	blood:
3	chr15:56534684..56537162-chr15:57025486..57027553,2	MCF-7	breast:

Variant related genes	Relation type
TEX9	TF binding region
ENSG00000137871	Chromatin interaction
ENSG00000069869	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	nsv833019	chr15:56486029-56649933	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv569547	chr15:56504598-56572176	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3388652	chr15:56534210-56537808	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	esv3377686	chr15:56534685-56537533	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	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	chr15:56532000-56537000	Active TSS	GM12878-XiMat	blood
2	chr15:56532400-56537000	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr15:56532600-56537000	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr15:56532600-56537000	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr15:56532600-56537000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr15:56532600-56537000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr15:56532600-56537000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:56532600-56537000	Active TSS	HMEC	breast
9	chr15:56533000-56537000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr15:56533200-56535200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr15:56533200-56536800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr15:56533200-56537000	Active TSS	H1 Cell Line	embryonic stem cell
13	chr15:56533200-56537000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:56533200-56537200	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr15:56533400-56535200	Active TSS	Fetal Brain Male	brain
16	chr15:56533400-56536200	Active TSS	HSMMtube	muscle
17	chr15:56533400-56536400	Active TSS	NHEK	skin
18	chr15:56533400-56536600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:56533400-56536800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr15:56533400-56536800	Active TSS	K562	blood
21	chr15:56533400-56536800	Active TSS	NHDF-Ad	bronchial
22	chr15:56533400-56537000	Active TSS	Thymus	Thymus
23	chr15:56533400-56537000	Active TSS	NHLF	lung
24	chr15:56533400-56537200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr15:56533400-56537200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr15:56533400-56537200	Active TSS	Brain Germinal Matrix	brain
27	chr15:56533600-56536200	Active TSS	HSMM	muscle
28	chr15:56533600-56536400	Active TSS	Primary T cells fromperipheralblood	blood
29	chr15:56533600-56536400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr15:56533600-56536400	Active TSS	Fetal Thymus	thymus
31	chr15:56533600-56536600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr15:56533600-56536600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr15:56533600-56536800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr15:56533600-56536800	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr15:56533600-56536800	Active TSS	Right Atrium	heart
36	chr15:56533600-56537000	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr15:56533600-56537000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr15:56533600-56537000	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr15:56533600-56537000	Active TSS	Muscle Satellite Cultured Cells	--
40	chr15:56533600-56537000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr15:56533600-56537000	Active TSS	Brain Hippocampus Middle	brain
42	chr15:56533600-56537000	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr15:56533600-56537000	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr15:56533600-56537000	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr15:56533800-56535200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr15:56533800-56535400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr15:56533800-56536400	Active TSS	Fetal Muscle Leg	muscle
48	chr15:56533800-56536800	Active TSS	Fetal Stomach	stomach
49	chr15:56533800-56537000	Active TSS	Fetal Brain Female	brain
50	chr15:56533800-56537000	Active TSS	Fetal Kidney	kidney

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