Variant report

Variant	rs4886827
Chromosome Location	chr15:77024909-77024910
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:131)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:131 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:77024840-77024990	HCFaa	heart:	n/a	n/a
2	CTCF	chr15:77024780-77024930	HFF-Myc	foreskin:	n/a	n/a
3	RAD21	chr15:77024750-77024956	SK-N-SH_RA	brain:	n/a	n/a
4	CTCF	chr15:77024760-77024910	HUVEC	blood vessel:	n/a	n/a
5	CTCF	chr15:77024820-77024970	GM12875	blood:	n/a	n/a
6	CTCF	chr15:77024769-77024952	GM12891	blood:	n/a	n/a
7	CTCF	chr15:77024780-77024962	Medullo	brain:	n/a	n/a
8	CTCF	chr15:77024860-77025010	AG04450	lung:	n/a	n/a
9	CTCF	chr15:77024820-77024970	NHEK	skin:	n/a	n/a
10	CTCF	chr15:77024820-77024970	HPAF	blood vessel:	n/a	n/a
11	CTCF	chr15:77024820-77024970	HPF	lung:	n/a	n/a
12	CTCF	chr15:77024731-77024978	Fibrobl	skin:	n/a	n/a
13	CTCF	chr15:77024792-77024917	LNCaP	prostate:	n/a	n/a
14	CTCF	chr15:77024760-77024910	AG10803	skin:	n/a	n/a
15	CTCF	chr15:77024802-77024925	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr15:77024860-77025010	HMEC	breast:	n/a	n/a
17	CTCF	chr15:77024820-77024970	AG04449	skin:	n/a	n/a
18	CTCF	chr15:77024766-77024960	ProgFib	skin:	n/a	n/a
19	RAD21	chr15:77024762-77024930	HepG2	liver:	n/a	n/a
20	CTCF	chr15:77024840-77024990	GM12873	blood:	n/a	n/a
21	CTCF	chr15:77024780-77024922	Pancreas_OC	pancreas:	n/a	n/a
22	CTCF	chr15:77024760-77024910	Caco-2	colon:	n/a	n/a
23	CTCF	chr15:77024780-77024930	HAc	cerebellar:	n/a	n/a
24	PAX5	chr15:77024771-77025154	GM12878	blood:	n/a	n/a
25	CTCF	chr15:77024796-77024929	GM13977	blood:	n/a	n/a
26	CTCF	chr15:77024780-77024930	GM12867	blood:	n/a	n/a
27	CTCF	chr15:77024760-77024910	GM12868	blood:	n/a	n/a
28	ZBTB33	chr15:77024792-77025068	HepG2	liver:	n/a	n/a
29	RXRA	chr15:77024736-77024989	HepG2	liver:	n/a	n/a
30	CTCF	chr15:77024760-77024910	GM12873	blood:	n/a	n/a
31	CTCF	chr15:77024760-77024910	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr15:77024860-77025010	NHDF-neo	bronchial:	n/a	n/a
33	CTCF	chr15:77024748-77024984	MCF-7	breast:	n/a	n/a
34	CTCF	chr15:77024860-77025010	GM06990	blood:	n/a	n/a
35	CTCF	chr15:77024754-77024977	GM19240	blood:	n/a	n/a
36	CTCF	chr15:77024840-77024990	HBMEC	blood vessel:	n/a	n/a
37	PAX5	chr15:77024772-77025156	GM12878	blood:	n/a	n/a
38	CTCF	chr15:77024750-77024986	MCF-7	breast:	n/a	n/a
39	CTCF	chr15:77024840-77024990	HRPEpiC	eye:	n/a	n/a
40	CTCF	chr15:77024780-77024930	GM12870	blood:	n/a	n/a
41	CTCF	chr15:77024840-77024990	HCT-116	colon:	n/a	n/a
42	CTCF	chr15:77024780-77024930	GM12864	blood:	n/a	n/a
43	CTCF	chr15:77024860-77025010	HCM	heart:	n/a	n/a
44	CTCF	chr15:77024760-77024910	NHEK	skin:	n/a	n/a
45	CTCF	chr15:77024748-77024965	MCF-7	breast:	n/a	n/a
46	CTCF	chr15:77024800-77024950	HCT-116	colon:	n/a	n/a
47	CTCF	chr15:77024820-77024970	BE2_C	brain:	n/a	n/a
48	CTCF	chr15:77024800-77024950	GM12869	blood:	n/a	n/a
49	CTCF	chr15:77024756-77024961	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr15:77024760-77024910	HMEC	breast:	n/a	n/a

No data

Variant related genes	Relation type
RN7SKP217	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11072611	0.87[ASN][1000 genomes]
rs11072613	0.89[ASN][1000 genomes]
rs11072614	0.93[ASN][1000 genomes]
rs11072632	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11630185	0.90[ASN][1000 genomes]
rs11633309	0.93[ASN][1000 genomes]
rs11634428	0.81[ASN][1000 genomes]
rs11635162	0.87[ASN][1000 genomes]
rs11635539	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11635998	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11636612	0.90[ASN][1000 genomes]
rs11855644	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12915184	0.93[ASN][1000 genomes]
rs35556030	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3910756	0.87[ASN][1000 genomes]
rs4886823	0.93[ASN][1000 genomes]
rs56712156	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv542439	chr15:76762161-77196336	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	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
3	nsv904400	chr15:76772062-77085283	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1053924	chr15:76803849-77089079	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
5	nsv904401	chr15:76816015-77085283	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	esv2830013	chr15:76863023-77176158	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1039269	chr15:76863437-77057021	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
8	nsv904404	chr15:76869929-77033934	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
9	nsv904405	chr15:76869929-77047915	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
10	nsv904406	chr15:76869929-77085283	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
11	nsv904407	chr15:76869929-77121196	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
12	nsv904408	chr15:76884127-77085283	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1043066	chr15:76892097-77057021	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv542441	chr15:76892097-77057021	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv1046137	chr15:76892097-77196336	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv542442	chr15:76892097-77196336	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv904409	chr15:76893186-77033934	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv904410	chr15:76893186-77047915	ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	nsv904411	chr15:76893186-77085283	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv904412	chr15:76910031-77085283	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv457206	chr15:76971456-77121196	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	nsv570110	chr15:76971456-77121196	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4886827	SCAPER	Cis_1M	lymphoblastoid	RTeQTL
rs4886827	ISL2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76989600-77055800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr15:76990200-77025200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr15:76992400-77056200	Weak transcription	Colon Smooth Muscle	Colon
4	chr15:76992400-77056200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr15:76992800-77056000	Weak transcription	Right Ventricle	heart
6	chr15:76993000-77025000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:76993000-77025000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr15:76993200-77056200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr15:76994200-77056000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr15:76996000-77025000	Weak transcription	Left Ventricle	heart
11	chr15:77007000-77025000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:77007600-77029800	Weak transcription	Brain Angular Gyrus	brain
13	chr15:77008200-77025200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr15:77008600-77025200	Weak transcription	Esophagus	oesophagus
15	chr15:77008600-77030000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr15:77008800-77037400	Weak transcription	Fetal Brain Male	brain
17	chr15:77012800-77056200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr15:77016400-77025000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr15:77016600-77056000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr15:77016800-77025000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr15:77017200-77027200	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr15:77017600-77054400	Weak transcription	HSMMtube	muscle
23	chr15:77017800-77027800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr15:77018200-77025000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr15:77018200-77051600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr15:77019000-77025800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr15:77019000-77025800	Strong transcription	Placenta	Placenta
28	chr15:77019200-77025000	Weak transcription	Primary B cells from cord blood	blood
29	chr15:77019200-77025000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr15:77019200-77025000	Weak transcription	Fetal Brain Female	brain
31	chr15:77019200-77025200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:77019200-77029600	Weak transcription	Fetal Kidney	kidney
33	chr15:77019200-77033800	Weak transcription	Fetal Heart	heart
34	chr15:77019400-77028400	Weak transcription	HepG2	liver
35	chr15:77019400-77032800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr15:77019600-77025400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr15:77019600-77030400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr15:77019600-77034000	Weak transcription	Small Intestine	intestine
39	chr15:77020800-77025000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr15:77020800-77029000	Weak transcription	Fetal Lung	lung
41	chr15:77021000-77025000	Weak transcription	Psoas Muscle	Psoas
42	chr15:77021000-77025600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr15:77021000-77030000	Weak transcription	Aorta	Aorta
44	chr15:77021000-77030000	Weak transcription	Brain Substantia Nigra	brain
45	chr15:77021000-77031800	Weak transcription	GM12878-XiMat	blood
46	chr15:77021000-77054200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr15:77021000-77055800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr15:77021000-77056000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr15:77021200-77025000	Weak transcription	Brain Anterior Caudate	brain
50	chr15:77021200-77028400	Weak transcription	Primary T cells from cord blood	blood

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