Variant report

Variant	rs577809616
Chromosome Location	chr15:40763470-40763471
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	chr15:40762819-40764132	GM19099	blood:	n/a	n/a
2	YY1	chr15:40762790-40763947	HepG2	liver:	n/a	chr15:40763383-40763397 chr15:40763242-40763256
3	POLR2A	chr15:40762860-40764157	HUVEC	blood vessel:	n/a	n/a
4	MAX	chr15:40762397-40764353	HepG2	liver:	n/a	chr15:40762698-40762707 chr15:40763164-40763174
5	YY1	chr15:40763312-40763645	SK-N-SH_RA	brain:	n/a	chr15:40763383-40763397
6	ZBTB7A	chr15:40762423-40764538	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr15:40762156-40764091	GM12892	blood:	n/a	n/a
8	POLR2A	chr15:40762787-40763650	A549	lung:	n/a	n/a
9	YY1	chr15:40763328-40763619	GM12891	blood:	n/a	chr15:40763383-40763397
10	YY1	chr15:40763368-40763511	GM12892	blood:	n/a	chr15:40763383-40763397
11	POLR2A	chr15:40763444-40763767	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr15:40762124-40764649	HepG2	liver:	n/a	n/a
13	EBF1	chr15:40763450-40764010	GM12878	blood:	n/a	n/a
14	YY1	chr15:40763343-40763946	K562	blood:	n/a	chr15:40763383-40763397
15	POLR2A	chr15:40762868-40764182	GM18526	blood:	n/a	n/a
16	POLR2A	chr15:40762815-40764611	MCF-7	breast:	n/a	n/a
17	CCNT2	chr15:40762681-40763928	K562	blood:	n/a	chr15:40763395-40763404
18	POLR2A	chr15:40762658-40764624	ECC-1	luminal epithelium:	n/a	n/a
19	YY1	chr15:40763340-40763581	HepG2	liver:	n/a	chr15:40763383-40763397
20	POLR2A	chr15:40762787-40764137	Gliobla	brain:	n/a	n/a
21	POLR2A	chr15:40762116-40764390	K562	blood:	n/a	n/a
22	POLR2A	chr15:40763447-40763995	GM12891	blood:	n/a	n/a
23	MAX	chr15:40762529-40764286	NB4	blood:	n/a	chr15:40762698-40762707 chr15:40763164-40763174
24	YY1	chr15:40763340-40763591	GM12878	blood:	n/a	chr15:40763383-40763397
25	YY1	chr15:40763304-40764434	ECC-1	luminal epithelium:	n/a	chr15:40763383-40763397
26	MAX	chr15:40763351-40764264	K562	blood:	n/a	n/a
27	HMGN3	chr15:40762706-40764544	K562	blood:	n/a	chr15:40763039-40763048
28	YY1	chr15:40763314-40763658	GM12878	blood:	n/a	chr15:40763383-40763397
29	POLR2A	chr15:40762739-40764747	MCF-7	breast:	n/a	n/a
30	POLR2A	chr15:40762791-40764137	K562	blood:	n/a	n/a
31	MAZ	chr15:40762587-40764174	K562	blood:	n/a	chr15:40762698-40762707 chr15:40763164-40763174
32	POLR2A	chr15:40763030-40763867	MCF10A-Er-Src	breast:	n/a	n/a
33	ELF1	chr15:40762633-40764646	GM12878	blood:	n/a	chr15:40763055-40763066
34	MTA3	chr15:40763349-40764473	GM12878	blood:	n/a	n/a
35	POLR2A	chr15:40762808-40764311	GM12878	blood:	n/a	n/a
36	MAZ	chr15:40761986-40764139	IMR90	lung:	n/a	chr15:40762698-40762707 chr15:40763164-40763174
37	POLR2A	chr15:40763420-40763627	A549	lung:	n/a	n/a
38	ZBTB7A	chr15:40762717-40764030	K562	blood:	n/a	n/a
39	POLR2A	chr15:40762647-40764038	GM12878	blood:	n/a	n/a
40	POLR2A	chr15:40761478-40764066	PFSK-1	brain:	n/a	n/a
41	POLR2A	chr15:40763348-40763833	K562	blood:	n/a	n/a
42	POLR2A	chr15:40762628-40764339	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr15:40762720-40764293	GM18505	blood:	n/a	n/a
44	GABPA	chr15:40762672-40763629	K562	blood:	n/a	n/a
45	POLR2A	chr15:40762727-40764176	K562	blood:	n/a	n/a
46	YY1	chr15:40763313-40763673	K562	blood:	n/a	chr15:40763383-40763397
47	POLR2A	chr15:40762812-40764025	ProgFib	skin:	n/a	n/a
48	MAZ	chr15:40762885-40764069	GM12878	blood:	n/a	chr15:40763164-40763174
49	POLR2A	chr15:40762699-40764550	GM15510	blood:	n/a	n/a
50	YY1	chr15:40763341-40763582	A549	lung:	n/a	chr15:40763383-40763397

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	chr15:40762952..40763883-chr6:26056601..26057141,2	NB4	blood:
6	chr15:40763301..40766173-chr15:40861522..40864181,2	K562	blood:
7	chr15:40731823..40734826-chr15:40760868..40766207,7	K562	blood:
8	chr15:40761396..40764374-chr15:40800140..40802676,2	K562	blood:
9	chr15:40763466..40765784-chr15:40773295..40775990,2	MCF-7	breast:
10	chr15:40749483..40752811-chr15:40761476..40764713,3	MCF-7	breast:
11	chr15:40763158..40763829-chr15:66796805..66797653,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000259211	TF binding region
ENSG00000259211	Chromatin interaction
ENSG00000259536	Chromatin interaction
ENSG00000244251	Chromatin interaction
ENSG00000174442	Chromatin interaction
ENSG00000187837	Chromatin interaction
ENSG00000166133	Chromatin interaction
ENSG00000174444	Chromatin interaction
ENSG00000259364	Chromatin interaction
ENSG00000140320	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40761600-40763800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr15:40762200-40764400	Active TSS	Fetal Kidney	kidney
3	chr15:40762600-40763800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr15:40762600-40764000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr15:40762600-40764000	Active TSS	Fetal Intestine Large	intestine
6	chr15:40762600-40764200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr15:40762600-40764200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:40762600-40764200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
9	chr15:40762600-40764200	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr15:40762600-40764200	Active TSS	Ovary	ovary
11	chr15:40762600-40764200	Active TSS	Psoas Muscle	Psoas
12	chr15:40762600-40764600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr15:40762600-40764600	Active TSS	Fetal Brain Female	brain
14	chr15:40762800-40763600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr15:40762800-40763600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:40762800-40763600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr15:40762800-40763600	Active TSS	Brain Germinal Matrix	brain
18	chr15:40762800-40763600	Active TSS	Right Atrium	heart
19	chr15:40762800-40763800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:40762800-40763800	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr15:40762800-40763800	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr15:40762800-40763800	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr15:40762800-40763800	Active TSS	Primary monocytes fromperipheralblood	blood
24	chr15:40762800-40763800	Active TSS	Brain Hippocampus Middle	brain
25	chr15:40762800-40763800	Active TSS	Fetal Stomach	stomach
26	chr15:40762800-40763800	Active TSS	Lung	lung
27	chr15:40762800-40763800	Active TSS	Pancreas	Pancrea
28	chr15:40762800-40763800	Active TSS	Placenta Amnion	Placenta Amnion
29	chr15:40762800-40763800	Active TSS	Monocytes-CD14+_RO01746	blood
30	chr15:40762800-40764000	Active TSS	Brain Angular Gyrus	brain
31	chr15:40762800-40764000	Active TSS	Brain Cingulate Gyrus	brain
32	chr15:40762800-40764000	Active TSS	Brain Substantia Nigra	brain
33	chr15:40762800-40764000	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr15:40762800-40764000	Active TSS	Gastric	stomach
35	chr15:40762800-40764000	Active TSS	Left Ventricle	heart
36	chr15:40762800-40764000	Active TSS	Small Intestine	intestine
37	chr15:40762800-40764000	Active TSS	Thymus	Thymus
38	chr15:40762800-40764000	Active TSS	HSMMtube	muscle
39	chr15:40762800-40764000	Active TSS	NHLF	lung
40	chr15:40762800-40764200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr15:40762800-40764200	Active TSS	Aorta	Aorta
42	chr15:40762800-40764200	Active TSS	Brain Anterior Caudate	brain
43	chr15:40762800-40764200	Active TSS	Colon Smooth Muscle	Colon
44	chr15:40762800-40764400	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr15:40762800-40764600	Active TSS	H9 Cell Line	embryonic stem cell
46	chr15:40763000-40763600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr15:40763000-40763600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr15:40763000-40763600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr15:40763000-40763600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr15:40763000-40763600	Active TSS	Primary neutrophils fromperipheralblood	blood

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