Variant report

Variant	rs1736067
Chromosome Location	chr8:11665518-11665519
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr8:11665432-11665760	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:11665380-11666439	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr8:11665486-11666181	GM12892	blood:	n/a	n/a
4	POLR2A	chr8:11665391-11666095	U87	brain:	n/a	n/a
5	POLR2A	chr8:11665162-11665954	HepG2	liver:	n/a	n/a
6	REST	chr8:11665125-11665935	A549	lung:	n/a	n/a
7	POLR2A	chr8:11664775-11666889	MCF10A-Er-Src	breast:	n/a	n/a
8	TAF1	chr8:11665492-11666018	A549	lung:	n/a	n/a
9	POLR2A	chr8:11665396-11666911	PBDE	blood:	n/a	n/a
10	POLR2A	chr8:11664843-11666654	SK-N-MC	brain:	n/a	n/a
11	NFATC1	chr8:11665360-11666186	GM12878	blood:	n/a	n/a
12	POLR2A	chr8:11665299-11666403	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr8:11665411-11666120	HepG2	liver:	n/a	n/a
14	YY1	chr8:11665097-11665538	HepG2	liver:	n/a	n/a
15	YY1	chr8:11665121-11665594	SK-N-SH_RA	brain:	n/a	n/a
16	POLR2A	chr8:11665500-11665915	GM12878	blood:	n/a	n/a
17	POLR2A	chr8:11665379-11666492	H1-neurons	neurons:	n/a	n/a
18	POLR2A	chr8:11665101-11666490	HepG2	liver:	n/a	n/a
19	HEY1	chr8:11664935-11666824	HepG2	liver:	n/a	chr8:11665851-11665866
20	MXI1	chr8:11665346-11666710	HepG2	liver:	n/a	n/a
21	POLR2A	chr8:11665410-11666524	HepG2	liver:	n/a	n/a
22	POLR2A	chr8:11665508-11666015	PFSK-1	brain:	n/a	n/a
23	IRF1	chr8:11665376-11665845	K562	blood:	n/a	n/a
24	CTCF	chr8:11665380-11665650	GM12873	blood:	n/a	n/a
25	POLR2A	chr8:11665392-11666606	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr8:11665337-11665914	K562	blood:	n/a	n/a
27	MAZ	chr8:11665275-11666823	IMR90	lung:	n/a	chr8:11666615-11666625
28	POLR2A	chr8:11665240-11666635	HUVEC	blood vessel:	n/a	n/a
29	CHD1	chr8:11665379-11665858	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr8:11665492-11666177	GM12878	blood:	n/a	n/a
31	POLR2A	chr8:11664784-11666154	HepG2	liver:	n/a	n/a
32	POLR2A	chr8:11659475-11672720	K562	blood:	n/a	n/a
33	MTA3	chr8:11665327-11665932	GM12878	blood:	n/a	n/a
34	PML	chr8:11664765-11665899	K562	blood:	n/a	n/a
35	MXI1	chr8:11664826-11667052	SK-N-SH	brain:	n/a	n/a
36	KAP1	chr8:11665142-11665800	HEK293	kidney:	n/a	n/a
37	YY1	chr8:11665351-11665646	A549	lung:	n/a	n/a
38	RCOR1	chr8:11665312-11665657	K562	blood:	n/a	n/a
39	SIN3A	chr8:11665320-11666645	H1-hESC	embryonic stem cell:	n/a	chr8:11666073-11666087
40	REST	chr8:11664977-11666433	H1-neurons	neurons:	n/a	chr8:11666074-11666088 chr8:11666042-11666062
41	ZZZ3	chr8:11665245-11665694	GM12878	blood:	n/a	n/a
42	ZNF263	chr8:11664943-11666666	HEK293-T-REx	kidney:	n/a	chr8:11665843-11665852
43	POLR2A	chr8:11664833-11666016	HL-60	blood:	n/a	n/a
44	POLR2A	chr8:11665383-11666700	K562	blood:	n/a	n/a
45	STAT5A	chr8:11665507-11665927	GM12878	blood:	n/a	n/a
46	TEAD4	chr8:11665264-11665951	K562	blood:	n/a	n/a
47	HEY1	chr8:11665312-11665518	HepG2	liver:	n/a	n/a
48	POLR2A	chr8:11665293-11666536	H1-neurons	neurons:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:11658127..11661675-chr8:11664375..11667732,3	K562	blood:
2	chr8:11662566..11665636-chr8:11705504..11707081,3	K562	blood:
3	chr8:11658330..11660255-chr8:11664033..11666074,2	MCF-7	breast:
4	chr8:11665243..11667469-chr8:11710761..11712863,3	MCF-7	breast:
5	chr8:11625432..11628777-chr8:11664764..11667821,4	MCF-7	breast:
6	chr8:11663695..11667740-chr8:11686501..11689379,3	MCF-7	breast:
7	chr8:11618295..11620623-chr8:11664020..11665628,2	K562	blood:
8	chr8:11658229..11662389-chr8:11662980..11669380,10	MCF-7	breast:
9	chr8:11664303..11666890-chr8:11705423..11707941,2	MCF-7	breast:
10	chr8:11662802..11665653-chr8:11685244..11688002,2	K562	blood:

No data

Variant related genes	Relation type
FDFT1	TF binding region
ENSG00000255046	Chromatin interaction
ENSG00000164733	Chromatin interaction
ENSG00000255394	Chromatin interaction
ENSG00000079459	Chromatin interaction
ENSG00000154328	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1032575	0.93[ASN][1000 genomes]
rs1032577	0.83[ASN][1000 genomes]
rs1616534	0.82[CHD][hapmap]
rs1618110	0.81[AMR][1000 genomes]
rs1619667	0.83[ASN][1000 genomes]
rs1736057	0.83[ASN][1000 genomes]
rs1736060	0.82[ASN][1000 genomes]
rs1736062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1736070	0.86[ASN][1000 genomes]
rs17524895	0.83[ASN][1000 genomes]
rs2179010	0.94[ASN][1000 genomes]
rs2179011	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2645429	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2686197	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2686198	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3824114	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1023803	chr8:11623570-11721655	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv539476	chr8:11623570-11721655	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv890361	chr8:11625808-11755513	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv890362	chr8:11625808-11771089	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv1032739	chr8:11643803-11716473	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv890363	chr8:11647941-11681825	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv890364	chr8:11654796-11671041	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv1034132	chr8:11657033-12198242	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1736067	NEIL2	cis	lymphoblastoid	seeQTL
rs1736067	MFHAS1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11658400-11666800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:11660400-11668200	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr8:11660800-11665800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:11660800-11666000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:11661000-11667200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:11661600-11665600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:11662400-11665800	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr8:11662400-11665800	Flanking Active TSS	HUVEC	blood vessel
9	chr8:11662400-11666800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
10	chr8:11662400-11666800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:11662600-11667000	Transcr. at gene 5' and 3'	NHEK	skin
12	chr8:11663200-11665600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:11663800-11665800	Bivalent/Poised TSS	HepG2	liver
14	chr8:11664000-11665800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
15	chr8:11664000-11666000	Weak transcription	Spleen	Spleen
16	chr8:11664200-11665600	Enhancers	Thymus	Thymus
17	chr8:11664200-11665800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:11664200-11666200	Active TSS	H1 Cell Line	embryonic stem cell
19	chr8:11664200-11666200	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr8:11664200-11669000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:11664400-11665600	Enhancers	Placenta Amnion	Placenta Amnion
22	chr8:11664400-11666200	Active TSS	H9 Cell Line	embryonic stem cell
23	chr8:11664400-11666200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:11664400-11666200	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr8:11664600-11665600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:11664600-11665600	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr8:11664600-11665800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr8:11664600-11666600	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr8:11664800-11665600	Enhancers	Placenta	Placenta
30	chr8:11664800-11665600	Flanking Active TSS	GM12878-XiMat	blood
31	chr8:11664800-11665800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr8:11664800-11665800	Flanking Active TSS	HMEC	breast
33	chr8:11664800-11666800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:11664800-11667000	Weak transcription	Hela-S3	cervix
35	chr8:11665000-11665600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr8:11665000-11665600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr8:11665000-11665600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr8:11665000-11665600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:11665000-11665600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr8:11665000-11665600	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr8:11665000-11665600	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr8:11665000-11665800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:11665000-11665800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:11665000-11665800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:11665000-11665800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:11665000-11665800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr8:11665000-11665800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr8:11665000-11665800	Flanking Active TSS	Liver	Liver
49	chr8:11665000-11665800	Flanking Active TSS	Fetal Brain Male	brain
50	chr8:11665000-11665800	Flanking Active TSS	Fetal Heart	heart

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