Variant report

Variant	rs557553748
Chromosome Location	chr15:77223846-77223847
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:336)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:336 , 50 per page) page: 1 2 3 4 5 6 7

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	CEBPD	chr15:77223676-77224303	HepG2	liver:	n/a	n/a
8	TAF1	chr15:77223636-77223920	GM12891	blood:	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	PML	chr15:77223476-77224094	K562	blood:	n/a	n/a
24	ELF1	chr15:77223833-77224217	HepG2	liver:	n/a	n/a
25	SP1	chr15:77223657-77224289	H1-hESC	embryonic stem cell:	n/a	chr15:77223892-77223901 chr15:77223891-77223903 chr15:77223891-77223903 chr15:77223893-77223902
26	TAF1	chr15:77223534-77224311	H1-neurons	neurons:	n/a	n/a
27	CHD2	chr15:77223781-77224246	H1-hESC	embryonic stem cell:	n/a	chr15:77223891-77223901
28	POLR2A	chr15:77223634-77224326	GM10847	blood:	n/a	n/a
29	SMC3	chr15:77223698-77223881	K562	blood:	n/a	n/a
30	MYC	chr15:77223764-77224476	MCF-7	breast:	n/a	n/a
31	POLR2A	chr15:77223429-77224507	HUVEC	blood vessel:	n/a	n/a
32	MYC	chr15:77223722-77223879	HepG2	liver:	n/a	n/a
33	SRF	chr15:77223605-77224293	MCF-7	breast:	n/a	chr15:77223955-77223969
34	TCF12	chr15:77223469-77224394	ECC-1	luminal epithelium:	n/a	chr15:77223932-77223942
35	TAF1	chr15:77223509-77224363	MCF-7	breast:	n/a	n/a
36	RFX5	chr15:77223657-77224145	GM12878	blood:	n/a	n/a
37	YY1	chr15:77223566-77224718	K562	blood:	n/a	chr15:77224370-77224381 chr15:77224370-77224384 chr15:77224116-77224130 chr15:77224451-77224460 chr15:77224369-77224380
38	POLR2A	chr15:77223261-77224356	K562	blood:	n/a	n/a
39	TAF1	chr15:77223655-77223997	PFSK-1	brain:	n/a	n/a
40	REST	chr15:77223287-77224081	A549	lung:	n/a	n/a
41	POLR2A	chr15:77223470-77225149	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr15:77223688-77224340	K562	blood:	n/a	n/a
43	HEY1	chr15:77223448-77224369	HepG2	liver:	n/a	chr15:77223895-77223910
44	POLR2A	chr15:77223678-77224363	A549	lung:	n/a	n/a
45	ARID3A	chr15:77223635-77223886	K562	blood:	n/a	n/a
46	EGR1	chr15:77223783-77224233	K562	blood:	n/a	chr15:77223894-77223907 chr15:77223978-77223991
47	MAX	chr15:77223182-77224863	NB4	blood:	n/a	n/a
48	MAX	chr15:77223502-77224627	HepG2	liver:	n/a	n/a
49	MAZ	chr15:77223145-77224880	K562	blood:	n/a	n/a
50	IRF1	chr15:77223543-77224230	K562	blood:	n/a	chr15:77224043-77224057

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:77223807-77223857	HAEpiC	amniotic membrane:	n/a
2	chr15:77223807-77223857	AG09309	skin:	n/a
3	chr15:77223807-77223857	ECC-1	luminal epithelium:	n/a
4	chr15:77223807-77223857	K562	blood:	n/a
5	chr15:77223807-77223857	AG04450	lung:	fetal
6	chr15:77223807-77223857	ProgFib	skin:	n/a
7	chr15:77223807-77223857	NHDF-neo	bronchial:	n/a
8	chr15:77223807-77223857	SKMC	muscle:	n/a
9	chr15:77223807-77223857	MCF10A-Er-Src	breast:	n/a
10	chr15:77223807-77223857	GM12892	blood:	n/a
11	chr15:77223807-77223857	HEEpiC	esophagus:	n/a
12	chr15:77223807-77223857	HCF	heart:	n/a
13	chr15:77223807-77223857	AG09319	gingival:	n/a
14	chr15:77223807-77223857	HL-60	blood:	n/a
15	chr15:77223807-77223857	AG10803	skin:	n/a
16	chr15:77223807-77223857	GM19239	blood:	n/a
17	chr15:77223807-77223857	LNCaP	prostate:	n/a
18	chr15:77223807-77223857	HIPEpiC	eye:	n/a
19	chr15:77223807-77223857	AG04449	skin:	fetal
20	chr15:77223807-77223857	PFSK-1	brain:	n/a
21	chr15:77223807-77223857	HCT-116	colon:	n/a
22	chr15:77223807-77223857	SK-N-SH_RA	brain:	n/a
23	chr15:77223807-77223857	HNPCEpiC	eye:	n/a
24	chr15:77223807-77223857	PrEC	prostate:	n/a
25	chr15:77223807-77223857	CMK	blood:	n/a
26	chr15:77223807-77223857	H1-hESC	embryonic stem cell:	embryo
27	chr15:77223807-77223857	HMEC	breast:	n/a
28	chr15:77223807-77223857	HUVEC	blood vessel:	n/a
29	chr15:77223807-77223857	Hepatocyte	liver:	n/a
30	chr15:77223807-77223857	HPAEpiC	pulmonary alveolar:	n/a
31	chr15:77223807-77223857	HRCEpiC	kidney:	n/a
32	chr15:77223807-77223857	ovcar-3	ovarian:	n/a
33	chr15:77223807-77223857	NHBE	bronchial:	n/a
34	chr15:77223807-77223857	Hela-S3	cervix:	n/a
35	chr15:77223807-77223857	GM12891	blood:	n/a
36	chr15:77223807-77223857	HepG2	liver:	n/a
37	chr15:77223807-77223857	SAEC	small airway:	n/a
38	chr15:77223807-77223857	SK-N-MC	brain:	n/a
39	chr15:77223807-77223857	Caco-2	colon:	n/a
40	chr15:77223807-77223857	HCPEpiC	choroid plexus:	n/a
41	chr15:77223807-77223857	IMR90	lung:	fetal
42	chr15:77223807-77223857	MCF-7	breast:	n/a
43	chr15:77223807-77223857	NB4	blood:	n/a
44	chr15:77223807-77223857	RPTEC	kidney:	n/a
45	chr15:77223807-77223857	T-47D	breast:	n/a
46	chr15:77223807-77223857	SK-N-SH	brain:	n/a
47	chr15:77223807-77223857	A549	lung:	n/a
48	chr15:77223807-77223857	U87	brain:	n/a
49	chr15:77223807-77223857	NH-A	brain:	n/a
50	chr15:77223807-77223857	HRPEpiC	eye:	n/a

(count:9 , 50 per page) page: 1

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:

No data

Variant related genes	Relation type
RCN2	TF binding region
RCN2	CpG island
ENSG00000140386	Chromatin interaction
ENSG00000204388	Chromatin interaction
ENSG00000117906	Chromatin interaction
ENSG00000140374	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000202538	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	chr15:77223400-77224000	Active TSS	Right Atrium	heart
7	chr15:77223400-77224200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr15:77223400-77224200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr15:77223400-77224400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:77223400-77224400	Active TSS	Psoas Muscle	Psoas
11	chr15:77223400-77224600	Active TSS	Placenta	Placenta
12	chr15:77223400-77224600	Active TSS	Fetal Thymus	thymus
13	chr15:77223400-77224600	Active TSS	Stomach Smooth Muscle	stomach
14	chr15:77223400-77224800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:77223400-77224800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:77223400-77224800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr15:77223400-77224800	Active TSS	Fetal Brain Female	brain
18	chr15:77223400-77224800	Active TSS	Thymus	Thymus
19	chr15:77223400-77225000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr15:77223400-77225000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr15:77223400-77225000	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr15:77223400-77225000	Active TSS	Fetal Muscle Trunk	muscle
23	chr15:77223400-77225000	Active TSS	Right Ventricle	heart
24	chr15:77223400-77225000	Active TSS	Stomach Mucosa	stomach
25	chr15:77223400-77225200	Active TSS	H9 Cell Line	embryonic stem cell
26	chr15:77223400-77225200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr15:77223400-77225200	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr15:77223400-77225200	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr15:77223400-77225200	Active TSS	Brain Germinal Matrix	brain
30	chr15:77223400-77225200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr15:77223400-77225800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr15:77223600-77224400	Active TSS	Adipose Nuclei	Adipose
33	chr15:77223600-77224400	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr15:77223600-77224400	Active TSS	HepG2	liver
35	chr15:77223600-77224600	Active TSS	Primary T cells from cord blood	blood
36	chr15:77223600-77224600	Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr15:77223600-77224600	Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr15:77223600-77224600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr15:77223600-77224600	Active TSS	Duodenum Mucosa	Duodenum
40	chr15:77223600-77224600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr15:77223600-77224600	Active TSS	Fetal Lung	lung
42	chr15:77223600-77224600	Active TSS	Fetal Muscle Leg	muscle
43	chr15:77223600-77224600	Active TSS	Pancreas	Pancrea
44	chr15:77223600-77224600	Active TSS	Spleen	Spleen
45	chr15:77223600-77224600	Active TSS	Osteobl	bone
46	chr15:77223600-77224800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr15:77223600-77224800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr15:77223600-77224800	Active TSS	Brain Angular Gyrus	brain
49	chr15:77223600-77224800	Active TSS	Brain Anterior Caudate	brain
50	chr15:77223600-77224800	Active TSS	Brain Cingulate Gyrus	brain

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