Variant report

Variant	rs3764244
Chromosome Location	chr15:77223740-77223741
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:327)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:327 , 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	CTCF	chr15:77223620-77223770	AG10803	skin:	n/a	n/a
17	CREB1	chr15:77223678-77224311	GM12878	blood:	n/a	n/a
18	POLR2A	chr15:77223038-77224468	PBDE	blood:	n/a	n/a
19	CTCF	chr15:77223620-77223770	AG04449	skin:	n/a	n/a
20	POLR2A	chr15:77223505-77224358	HL-60	blood:	n/a	n/a
21	REST	chr15:77223342-77225196	H1-neurons	neurons:	n/a	chr15:77224116-77224129 chr15:77224361-77224374
22	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
23	POLR2A	chr15:77223624-77224259	HepG2	liver:	n/a	n/a
24	SMC3	chr15:77223700-77224234	Hela-S3	cervix:	n/a	chr15:77223895-77223905
25	PML	chr15:77223476-77224094	K562	blood:	n/a	n/a
26	SP1	chr15:77223657-77224289	H1-hESC	embryonic stem cell:	n/a	chr15:77223892-77223901 chr15:77223891-77223903 chr15:77223891-77223903 chr15:77223893-77223902
27	TAF1	chr15:77223534-77224311	H1-neurons	neurons:	n/a	n/a
28	POLR2A	chr15:77223634-77224326	GM10847	blood:	n/a	n/a
29	SMC3	chr15:77223698-77223881	K562	blood:	n/a	n/a
30	EP300	chr15:77223724-77223815	HepG2	liver:	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	MAX	chr15:77223182-77224863	NB4	blood:	n/a	n/a
47	MAX	chr15:77223502-77224627	HepG2	liver:	n/a	n/a
48	TBL1XR1	chr15:77223605-77223833	K562	blood:	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	chr15:77223719-77223769	SAEC	small airway:	n/a
2	chr15:77223719-77223769	HPAEpiC	pulmonary alveolar:	n/a
3	chr15:77223719-77223769	MCF10A-Er-Src	breast:	n/a
4	chr15:77223719-77223769	ProgFib	skin:	n/a
5	chr15:77223719-77223769	HNPCEpiC	eye:	n/a
6	chr15:77223719-77223769	BE2_C	brain:	n/a
7	chr15:77223719-77223769	H1-hESC	embryonic stem cell:	embryo
8	chr15:77223719-77223769	HCPEpiC	choroid plexus:	n/a
9	chr15:77223719-77223769	HAEpiC	amniotic membrane:	n/a
10	chr15:77223719-77223769	AG04449	skin:	fetal
11	chr15:77223719-77223769	HMEC	breast:	n/a
12	chr15:77223719-77223769	T-47D	breast:	n/a
13	chr15:77223719-77223769	SK-N-MC	brain:	n/a
14	chr15:77223719-77223769	SK-N-SH	brain:	n/a
15	chr15:77223719-77223769	AG04450	lung:	fetal
16	chr15:77223719-77223769	PFSK-1	brain:	n/a
17	chr15:77223719-77223769	HepG2	liver:	n/a
18	chr15:77223719-77223769	RPTEC	kidney:	n/a
19	chr15:77223719-77223769	AG09309	skin:	n/a
20	chr15:77223719-77223769	NHBE	bronchial:	n/a
21	chr15:77223719-77223769	GM12878	blood:	n/a
22	chr15:77223719-77223769	HIPEpiC	eye:	n/a
23	chr15:77223719-77223769	IMR90	lung:	fetal
24	chr15:77223719-77223769	HCF	heart:	n/a
25	chr15:77223719-77223769	HCT-116	colon:	n/a
26	chr15:77223719-77223769	AG09319	gingival:	n/a
27	chr15:77223719-77223769	HEEpiC	esophagus:	n/a
28	chr15:77223719-77223769	HRE	kidney:	n/a
29	chr15:77223719-77223769	AG10803	skin:	n/a
30	chr15:77223719-77223769	ovcar-3	ovarian:	n/a
31	chr15:77223719-77223769	Hepatocyte	liver:	n/a
32	chr15:77223719-77223769	Jurkat	blood:	n/a
33	chr15:77223719-77223769	HRCEpiC	kidney:	n/a
34	chr15:77223719-77223769	GM19239	blood:	n/a
35	chr15:77223719-77223769	HUVEC	blood vessel:	n/a
36	chr15:77223719-77223769	GM06990	blood:	n/a
37	chr15:77223719-77223769	GM12892	blood:	n/a
38	chr15:77223719-77223769	GM12891	blood:	n/a
39	chr15:77223719-77223769	Hela-S3	cervix:	n/a
40	chr15:77223719-77223769	HRPEpiC	eye:	n/a
41	chr15:77223719-77223769	MCF-7	breast:	n/a
42	chr15:77223719-77223769	HCM	heart:	n/a
43	chr15:77223719-77223769	HEK293	kidney:	embryo
44	chr15:77223719-77223769	CMK	blood:	n/a
45	chr15:77223719-77223769	ECC-1	luminal epithelium:	n/a
46	chr15:77223719-77223769	NT2-D1	testis:	n/a
47	chr15:77223719-77223769	HL-60	blood:	n/a
48	chr15:77223719-77223769	NB4	blood:	n/a
49	chr15:77223719-77223769	U87	brain:	n/a
50	chr15:77223719-77223769	Caco-2	colon:	n/a

(count:11 , 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	chr15:77213948..77217003-chr15:77220696..77223782,5	K562	blood:
8	chr15:76584744..76587703-chr15:77223601..77225703,2	K562	blood:
9	chr15:77223524..77226032-chr15:77234679..77237040,2	MCF-7	breast:
10	chr12:120729471..120731046-chr15:77223645..77226365,2	MCF-7	breast:
11	chr15:77208994..77210693-chr15:77221866..77223836,2	MCF-7	breast:

No data

Variant related genes	Relation type
RCN2	TF binding region
RCN2	CpG island
ENSG00000200795	Chromatin interaction
ENSG00000204388	Chromatin interaction
ENSG00000140374	Chromatin interaction
ENSG00000117906	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000140386	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10431768	0.82[ASN][1000 genomes]
rs12593107	0.83[ASN][1000 genomes]
rs1398241	0.88[CHD][hapmap];1.00[GIH][hapmap]
rs1611866	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1813479	0.88[ASN][1000 genomes]
rs1913001	0.87[ASN][1000 genomes]
rs2046415	0.87[CEU][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap]
rs2063542	0.81[ASN][1000 genomes]
rs2469205	0.83[YRI][hapmap]
rs280024	0.87[CEU][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap]
rs280028	0.87[CEU][hapmap]
rs280030	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs28405838	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28551558	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28618274	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28744566	0.83[YRI][hapmap]
rs3099134	0.87[CEU][hapmap]
rs3102710	0.87[CEU][hapmap]
rs3102715	0.83[YRI][hapmap]
rs3106377	0.81[ASN][1000 genomes]
rs3110377	1.00[LWK][hapmap];0.81[MKK][hapmap]
rs3110378	0.87[CEU][hapmap]
rs3110379	0.87[CEU][hapmap]
rs3110386	1.00[LWK][hapmap];0.81[MKK][hapmap]
rs4243043	0.87[ASN][1000 genomes]
rs4541044	0.87[CEU][hapmap];0.88[ASN][1000 genomes]
rs4583202	0.82[ASN][1000 genomes]
rs4886831	0.87[CEU][hapmap]
rs4886832	0.87[CEU][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs4886838	0.82[CHD][hapmap]
rs6495222	0.87[ASN][1000 genomes]
rs7172639	0.82[ASN][1000 genomes]
rs7174048	0.82[CEU][hapmap]
rs7178759	0.87[CEU][hapmap];0.96[CHD][hapmap];0.86[GIH][hapmap];0.89[MEX][hapmap]
rs9888668	0.83[YRI][hapmap]

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	chr15:77223000-77223800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr15:77223000-77223800	Flanking Active TSS	Hela-S3	cervix
3	chr15:77223200-77223800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr15:77223200-77223800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr15:77223200-77223800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr15:77223200-77223800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr15:77223200-77223800	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr15:77223200-77223800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr15:77223200-77223800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
10	chr15:77223200-77223800	Flanking Active TSS	Dnd41	blood
11	chr15:77223200-77223800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr15:77223200-77223800	Flanking Active TSS	NHEK	skin
13	chr15:77223200-77224400	Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr15:77223200-77224600	Active TSS	HSMMtube	muscle
15	chr15:77223200-77225000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:77223200-77225000	Active TSS	Colonic Mucosa	Colon
17	chr15:77223200-77225200	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr15:77223400-77223800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
19	chr15:77223400-77223800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr15:77223400-77223800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr15:77223400-77223800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr15:77223400-77223800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
23	chr15:77223400-77223800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr15:77223400-77223800	Flanking Active TSS	Primary B cells from peripheral blood	blood
25	chr15:77223400-77223800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr15:77223400-77223800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr15:77223400-77223800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr15:77223400-77223800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr15:77223400-77223800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr15:77223400-77223800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr15:77223400-77223800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr15:77223400-77223800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr15:77223400-77223800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr15:77223400-77223800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr15:77223400-77223800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr15:77223400-77223800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr15:77223400-77223800	Flanking Active TSS	Liver	Liver
38	chr15:77223400-77223800	Flanking Active TSS	Fetal Brain Male	brain
39	chr15:77223400-77223800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr15:77223400-77223800	Flanking Active TSS	GM12878-XiMat	blood
41	chr15:77223400-77223800	Flanking Active TSS	HMEC	breast
42	chr15:77223400-77223800	Flanking Active TSS	HUVEC	blood vessel
43	chr15:77223400-77223800	Flanking Active TSS	NH-A	brain
44	chr15:77223400-77223800	Flanking Active TSS	NHLF	lung
45	chr15:77223400-77224000	Active TSS	Right Atrium	heart
46	chr15:77223400-77224200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr15:77223400-77224200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr15:77223400-77224400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr15:77223400-77224400	Active TSS	Psoas Muscle	Psoas
50	chr15:77223400-77224600	Active TSS	Placenta	Placenta

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