Variant report

Variant	rs529495010
Chromosome Location	chr15:77224110-77224111
allele	A/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	MXI1	chr15:77223628-77224458	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:77223592-77224552	GM19193	blood:	n/a	n/a
3	MAX	chr15:77223478-77224232	GM12878	blood:	n/a	n/a
4	SP1	chr15:77223723-77224158	GM12878	blood:	n/a	chr15:77223892-77223901 chr15:77223891-77223903 chr15:77223891-77223903 chr15:77223893-77223902
5	CREB1	chr15:77223670-77224313	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr15:77223510-77224315	K562	blood:	n/a	n/a
7	NFIC	chr15:77223941-77224513	ECC-1	luminal epithelium:	n/a	n/a
8	CEBPD	chr15:77223676-77224303	HepG2	liver:	n/a	n/a
9	ZMIZ1	chr15:77223610-77224316	K562	blood:	n/a	n/a
10	POLR2A	chr15:77223584-77224444	K562	blood:	n/a	n/a
11	NFYA	chr15:77223453-77224160	K562	blood:	n/a	chr15:77223911-77223925
12	POLR2A	chr15:77223487-77224170	U87	brain:	n/a	n/a
13	YY1	chr15:77223637-77224242	ECC-1	luminal epithelium:	n/a	chr15:77224116-77224130
14	NFYA	chr15:77223629-77224127	GM12878	blood:	n/a	chr15:77223911-77223925
15	MAX	chr15:77223621-77224641	H1-hESC	embryonic stem cell:	n/a	n/a
16	CREB1	chr15:77223678-77224311	GM12878	blood:	n/a	n/a
17	POLR2A	chr15:77223038-77224468	PBDE	blood:	n/a	n/a
18	POLR2A	chr15:77223505-77224358	HL-60	blood:	n/a	n/a
19	REST	chr15:77223342-77225196	H1-neurons	neurons:	n/a	chr15:77224116-77224129 chr15:77224361-77224374
20	YY1	chr15:77223658-77224615	H1-hESC	embryonic stem cell:	n/a	chr15:77224370-77224381 chr15:77224370-77224384 chr15:77224116-77224130 chr15:77224451-77224460 chr15:77224369-77224380
21	POLR2A	chr15:77223624-77224259	HepG2	liver:	n/a	n/a
22	SMC3	chr15:77223700-77224234	Hela-S3	cervix:	n/a	chr15:77223895-77223905
23	ELF1	chr15:77223833-77224217	HepG2	liver:	n/a	n/a
24	SP1	chr15:77223657-77224289	H1-hESC	embryonic stem cell:	n/a	chr15:77223892-77223901 chr15:77223891-77223903 chr15:77223891-77223903 chr15:77223893-77223902
25	TAF1	chr15:77223534-77224311	H1-neurons	neurons:	n/a	n/a
26	CHD2	chr15:77223781-77224246	H1-hESC	embryonic stem cell:	n/a	chr15:77223891-77223901
27	POLR2A	chr15:77223634-77224326	GM10847	blood:	n/a	n/a
28	MYC	chr15:77223764-77224476	MCF-7	breast:	n/a	n/a
29	POLR2A	chr15:77223429-77224507	HUVEC	blood vessel:	n/a	n/a
30	SRF	chr15:77223605-77224293	MCF-7	breast:	n/a	chr15:77223955-77223969
31	TCF12	chr15:77223469-77224394	ECC-1	luminal epithelium:	n/a	chr15:77223932-77223942
32	TAF1	chr15:77223509-77224363	MCF-7	breast:	n/a	n/a
33	RFX5	chr15:77223657-77224145	GM12878	blood:	n/a	n/a
34	CTCF	chr15:77224109-77224341	K562	blood:	n/a	n/a
35	YY1	chr15:77223566-77224718	K562	blood:	n/a	chr15:77224370-77224381 chr15:77224370-77224384 chr15:77224116-77224130 chr15:77224451-77224460 chr15:77224369-77224380
36	POLR2A	chr15:77223261-77224356	K562	blood:	n/a	n/a
37	POLR2A	chr15:77223470-77225149	H1-hESC	embryonic stem cell:	n/a	n/a
38	CREB1	chr15:77223688-77224340	K562	blood:	n/a	n/a
39	HEY1	chr15:77223448-77224369	HepG2	liver:	n/a	chr15:77223895-77223910
40	POLR2A	chr15:77223678-77224363	A549	lung:	n/a	n/a
41	EGR1	chr15:77223783-77224233	K562	blood:	n/a	chr15:77223894-77223907 chr15:77223978-77223991
42	MAX	chr15:77223182-77224863	NB4	blood:	n/a	n/a
43	MAX	chr15:77223502-77224627	HepG2	liver:	n/a	n/a
44	MAZ	chr15:77223145-77224880	K562	blood:	n/a	n/a
45	IRF1	chr15:77223543-77224230	K562	blood:	n/a	chr15:77224043-77224057
46	POLR2A	chr15:77223619-77224388	GM12878	blood:	n/a	n/a
47	MAX	chr15:77223176-77224702	A549	lung:	n/a	n/a
48	POLR2A	chr15:77223399-77224450	HUVEC	blood vessel:	n/a	n/a
49	CREB1	chr15:77223646-77224439	A549	lung:	n/a	n/a
50	CTCF	chr15:77224001-77224458	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:77195051..77197848-chr15:77221697..77224553,2	MCF-7	breast:
2	chr15:77222222..77225627-chr15:77232795..77236028,3	K562	blood:
3	chr15:77194744..77199863-chr15:77220881..77225601,7	MCF-7	breast:
4	chr15:77196182..77198169-chr15:77222869..77226186,3	K562	blood:
5	chr15:77196272..77198559-chr15:77223364..77225357,2	K562	blood:
6	chr15:77223331..77224220-chr6:31795445..31796173,2	NB4	blood:
7	chr15:76584744..76587703-chr15:77223601..77225703,2	K562	blood:
8	chr15:77223524..77226032-chr15:77234679..77237040,2	MCF-7	breast:
9	chr12:120729471..120731046-chr15:77223645..77226365,2	MCF-7	breast:

Variant related genes	Relation type
RCN2	TF binding region
ENSG00000140374	Chromatin interaction
ENSG00000117906	Chromatin interaction
ENSG00000204388	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000140386	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	esv3440794	chr15:76764595-77571114	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3367577	chr15:77015618-77442634	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	esv2758388	chr15:77170550-77373448	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv2760041	chr15:77170550-77373448	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv3351542	chr15:77223247-77225445	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77223200-77224400	Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr15:77223200-77224600	Active TSS	HSMMtube	muscle
3	chr15:77223200-77225000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr15:77223200-77225000	Active TSS	Colonic Mucosa	Colon
5	chr15:77223200-77225200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr15:77223400-77224200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr15:77223400-77224200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr15:77223400-77224400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
9	chr15:77223400-77224400	Active TSS	Psoas Muscle	Psoas
10	chr15:77223400-77224600	Active TSS	Placenta	Placenta
11	chr15:77223400-77224600	Active TSS	Fetal Thymus	thymus
12	chr15:77223400-77224600	Active TSS	Stomach Smooth Muscle	stomach
13	chr15:77223400-77224800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:77223400-77224800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:77223400-77224800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr15:77223400-77224800	Active TSS	Fetal Brain Female	brain
17	chr15:77223400-77224800	Active TSS	Thymus	Thymus
18	chr15:77223400-77225000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr15:77223400-77225000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr15:77223400-77225000	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr15:77223400-77225000	Active TSS	Fetal Muscle Trunk	muscle
22	chr15:77223400-77225000	Active TSS	Right Ventricle	heart
23	chr15:77223400-77225000	Active TSS	Stomach Mucosa	stomach
24	chr15:77223400-77225200	Active TSS	H9 Cell Line	embryonic stem cell
25	chr15:77223400-77225200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr15:77223400-77225200	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr15:77223400-77225200	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr15:77223400-77225200	Active TSS	Brain Germinal Matrix	brain
29	chr15:77223400-77225200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr15:77223400-77225800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr15:77223600-77224400	Active TSS	Adipose Nuclei	Adipose
32	chr15:77223600-77224400	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr15:77223600-77224400	Active TSS	HepG2	liver
34	chr15:77223600-77224600	Active TSS	Primary T cells from cord blood	blood
35	chr15:77223600-77224600	Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr15:77223600-77224600	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr15:77223600-77224600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr15:77223600-77224600	Active TSS	Duodenum Mucosa	Duodenum
39	chr15:77223600-77224600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr15:77223600-77224600	Active TSS	Fetal Lung	lung
41	chr15:77223600-77224600	Active TSS	Fetal Muscle Leg	muscle
42	chr15:77223600-77224600	Active TSS	Pancreas	Pancrea
43	chr15:77223600-77224600	Active TSS	Spleen	Spleen
44	chr15:77223600-77224600	Active TSS	Osteobl	bone
45	chr15:77223600-77224800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr15:77223600-77224800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr15:77223600-77224800	Active TSS	Brain Angular Gyrus	brain
48	chr15:77223600-77224800	Active TSS	Brain Anterior Caudate	brain
49	chr15:77223600-77224800	Active TSS	Brain Cingulate Gyrus	brain
50	chr15:77223600-77224800	Active TSS	Brain Inferior Temporal Lobe	brain

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