Variant report

Variant	rs56281795
Chromosome Location	chr15:79167563-79167564
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr15:79167142-79167658	K562	blood:	n/a	n/a
2	POLR2A	chr15:79165318-79167946	A549	lung:	n/a	n/a
3	POLR2A	chr15:79164507-79168166	K562	blood:	n/a	n/a
4	POLR2A	chr15:79165207-79167647	HepG2	liver:	n/a	n/a
5	POLR2A	chr15:79167196-79167703	U87	brain:	n/a	n/a
6	POLR2A	chr15:79164402-79167947	IMR90	lung:	n/a	n/a
7	POLR2A	chr15:79167503-79168140	PANC-1	pancreas:	n/a	n/a
8	UBTF	chr15:79167511-79168185	K562	blood:	n/a	n/a
9	POLR2A	chr15:79167269-79167579	MCF10A-Er-Src	breast:	n/a	n/a
10	CHD1	chr15:79165314-79167631	GM12878	blood:	n/a	chr15:79165408-79165415 chr15:79165761-79165771
11	POLR2A	chr15:79167097-79167703	U87	brain:	n/a	n/a
12	POLR2A	chr15:79167562-79167685	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr15:79167322-79167797	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr15:79167338-79168091	Hela-S3	cervix:	n/a	n/a
15	NFATC1	chr15:79167343-79167857	GM12878	blood:	n/a	n/a
16	POLR2A	chr15:79167455-79167727	PFSK-1	brain:	n/a	n/a
17	MXI1	chr15:79164472-79167903	SK-N-SH	brain:	n/a	n/a
18	CHD1	chr15:79164330-79168123	IMR90	lung:	n/a	chr15:79165408-79165415 chr15:79165761-79165771
19	TBL1XR1	chr15:79167280-79167976	K562	blood:	n/a	n/a
20	POLR2A	chr15:79167537-79167821	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr15:79167373-79168136	GM12878	blood:	n/a	n/a
22	POLR2A	chr15:79167498-79168143	H1-hESC	embryonic stem cell:	n/a	n/a
23	IRF1	chr15:79167397-79167710	K562	blood:	n/a	n/a
24	POLR2A	chr15:79167363-79168330	GM12878	blood:	n/a	n/a
25	POLR2A	chr15:79167473-79167757	K562	blood:	n/a	n/a
26	POLR2A	chr15:79167500-79167766	H1-hESC	embryonic stem cell:	n/a	n/a
27	MXI1	chr15:79167297-79167875	Hela-S3	cervix:	n/a	n/a
28	WRNIP1	chr15:79167524-79167728	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:79164114..79167612-chr15:79169909..79172320,4	MCF-7	breast:
2	chr15:79149764..79156555-chr15:79163462..79168215,14	K562	blood:
3	chr15:79164137..79170280-chr15:79189650..79200289,14	K562	blood:
4	chr15:79166291..79168090-chr15:79212016..79214147,2	K562	blood:
5	chr15:79164147..79167807-chr15:79181870..79184969,5	MCF-7	breast:
6	chr15:79166327..79167939-chr15:79173370..79175440,2	MCF-7	breast:
7	chr15:79147722..79157046-chr15:79163022..79167664,11	K562	blood:
8	chr15:79165092..79167959-chr15:79271269..79275481,5	MCF-7	breast:

No data

Variant related genes	Relation type
MORF4L1	TF binding region
ENSG00000185787	Chromatin interaction
ENSG00000058335	Chromatin interaction
ENSG00000252061	Chromatin interaction
ENSG00000243711	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10444811	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10519215	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10519216	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10519217	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10519219	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11857042	0.88[EUR][1000 genomes]
rs12050510	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12050511	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12050636	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12438191	0.87[EUR][1000 genomes]
rs12438433	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12439583	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12440205	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12440662	0.90[ASN][1000 genomes]
rs12442152	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12443105	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12592618	1.00[EUR][1000 genomes]
rs1435163	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16970194	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16970223	0.95[EUR][1000 genomes]
rs16970227	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16970233	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16970242	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16970244	0.88[EUR][1000 genomes]
rs1836556	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2289691	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34866535	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4622479	0.88[EUR][1000 genomes]
rs4624135	1.00[EUR][1000 genomes]
rs4628930	0.89[ASN][1000 genomes]
rs4778738	0.87[EUR][1000 genomes]
rs4778740	0.87[EUR][1000 genomes]
rs56031815	0.85[ASN][1000 genomes]
rs56225615	0.83[ASN][1000 genomes]
rs56272008	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56343754	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56687292	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58848937	0.88[EUR][1000 genomes]
rs59312571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59735519	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60634495	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61157089	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs62011029	0.89[ASN][1000 genomes]
rs62011032	0.89[ASN][1000 genomes]
rs62011033	0.89[ASN][1000 genomes]
rs62011034	0.89[ASN][1000 genomes]
rs62011036	0.93[ASN][1000 genomes]
rs62011050	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs62011052	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs62011055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62011056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62013160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62013184	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62013185	0.92[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62013186	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62013188	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62013189	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62013191	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62013192	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62013193	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62013196	0.87[EUR][1000 genomes]
rs6495343	0.89[ASN][1000 genomes]
rs6495351	0.84[AFR][1000 genomes]
rs7171539	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7174727	0.95[ASN][1000 genomes]
rs7179763	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7181240	0.90[ASN][1000 genomes]
rs7497610	0.98[EUR][1000 genomes]
rs8025870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8026077	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8027635	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8028352	0.98[EUR][1000 genomes]
rs8029496	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8031280	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8032867	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8035028	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8035305	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8037651	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8039140	0.99[EUR][1000 genomes]
rs8039144	0.98[EUR][1000 genomes]
rs8042187	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	esv33573	chr15:79053484-79293881	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv904432	chr15:79066932-79175813	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr15:79164000-79167800	Active TSS	Fetal Intestine Large	intestine
2	chr15:79164000-79169200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr15:79164200-79168600	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr15:79164200-79168800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:79164400-79167600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr15:79164400-79167800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr15:79164400-79168000	Active TSS	H9 Cell Line	embryonic stem cell
8	chr15:79164400-79168000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr15:79164400-79168000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr15:79164400-79168400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr15:79164400-79169200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr15:79164600-79167600	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr15:79164600-79167600	Active TSS	Colonic Mucosa	Colon
14	chr15:79164600-79167600	Active TSS	Psoas Muscle	Psoas
15	chr15:79164600-79167800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr15:79164600-79167800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr15:79164600-79167800	Active TSS	HSMMtube	muscle
18	chr15:79164600-79168000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr15:79164600-79168000	Active TSS	Aorta	Aorta
20	chr15:79164600-79169400	Active TSS	Ovary	ovary
21	chr15:79164600-79169800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr15:79164800-79167600	Active TSS	Fetal Muscle Leg	muscle
23	chr15:79164800-79167800	Active TSS	Fetal Brain Female	brain
24	chr15:79164800-79168200	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr15:79164800-79168600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr15:79165000-79167600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr15:79165000-79167600	Active TSS	Primary T cells fromperipheralblood	blood
28	chr15:79165000-79167600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr15:79165000-79167600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr15:79165000-79167600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr15:79165000-79167600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr15:79165000-79167600	Active TSS	Placenta	Placenta
33	chr15:79165000-79167600	Active TSS	GM12878-XiMat	blood
34	chr15:79165000-79167800	Active TSS	NHDF-Ad	bronchial
35	chr15:79165000-79168200	Active TSS	HSMM	muscle
36	chr15:79165000-79168600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr15:79165000-79168800	Active TSS	K562	blood
38	chr15:79165000-79169200	Active TSS	NH-A	brain
39	chr15:79165000-79169600	Active TSS	Rectal Smooth Muscle	rectum
40	chr15:79165000-79169800	Active TSS	NHLF	lung
41	chr15:79166000-79167600	Active TSS	Right Atrium	heart
42	chr15:79166200-79167600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr15:79166200-79168000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr15:79166200-79168200	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr15:79166200-79171400	Weak transcription	Spleen	Spleen
46	chr15:79166400-79167800	Weak transcription	Gastric	stomach
47	chr15:79166400-79168000	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr15:79166400-79168200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr15:79166600-79167800	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr15:79166600-79168200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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