Variant report

Variant	rs7816601
Chromosome Location	chr8:11205593-11205594
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr8:11205369-11205820	H1-hESC	embryonic stem cell:	n/a	n/a
2	MYC	chr8:11205481-11205635	MCF-7	breast:	n/a	n/a
3	POLR2A	chr8:11204292-11205726	K562	blood:	n/a	n/a
4	MAX	chr8:11204451-11205720	A549	lung:	n/a	n/a
5	MXI1	chr8:11204116-11206215	SK-N-SH	brain:	n/a	chr8:11205597-11205606
6	POLR2A	chr8:11204505-11205734	MCF-7	breast:	n/a	n/a
7	HEY1	chr8:11205464-11205721	K562	blood:	n/a	n/a
8	ZBTB7A	chr8:11204901-11205859	ECC-1	luminal epithelium:	n/a	chr8:11205220-11205231
9	MYC	chr8:11205456-11205722	MCF-7	breast:	n/a	n/a
10	MXI1	chr8:11205382-11205866	IMR90	lung:	n/a	chr8:11205597-11205606
11	MAX	chr8:11205353-11205807	ECC-1	luminal epithelium:	n/a	n/a
12	MAX	chr8:11204414-11205871	A549	lung:	n/a	n/a
13	HMGN3	chr8:11204405-11205642	K562	blood:	n/a	n/a
14	HDAC2	chr8:11205277-11205781	MCF-7	breast:	n/a	n/a
15	MYC	chr8:11204238-11205657	K562	blood:	n/a	n/a
16	MAX	chr8:11205488-11205770	K562	blood:	n/a	n/a
17	NRF1	chr8:11204810-11205787	SK-N-SH	brain:	n/a	n/a
18	ZBTB7A	chr8:11204410-11205819	ECC-1	luminal epithelium:	n/a	chr8:11204559-11204568 chr8:11205220-11205231
19	MAX	chr8:11204465-11205779	K562	blood:	n/a	n/a
20	POLR2A	chr8:11204468-11205705	MCF-7	breast:	n/a	n/a
21	ZBTB7A	chr8:11204209-11205803	K562	blood:	n/a	chr8:11204559-11204568 chr8:11205220-11205231
22	POLR2A	chr8:11204492-11205763	MCF-7	breast:	n/a	n/a
23	POLR2A	chr8:11203581-11205779	K562	blood:	n/a	n/a
24	UBTF	chr8:11204439-11205905	K562	blood:	n/a	n/a
25	MYC	chr8:11205362-11205743	MCF-7	breast:	n/a	n/a
26	MAX	chr8:11205354-11205808	H1-hESC	embryonic stem cell:	n/a	n/a
27	YY1	chr8:11205319-11205739	ECC-1	luminal epithelium:	n/a	n/a
28	E2F6	chr8:11204753-11205692	K562	blood:	n/a	chr8:11204973-11204983 chr8:11205135-11205142
29	YY1	chr8:11205382-11205677	K562	blood:	n/a	n/a
30	E2F6	chr8:11204624-11205834	H1-hESC	embryonic stem cell:	n/a	chr8:11204973-11204983 chr8:11205135-11205142
31	HA-E2F1	chr8:11204294-11205852	MCF-7	breast:	n/a	chr8:11204560-11204569 chr8:11204973-11204983 chr8:11205135-11205142
32	E2F6	chr8:11204494-11205745	K562	blood:	n/a	chr8:11204560-11204569 chr8:11204973-11204983 chr8:11205135-11205142
33	MAX	chr8:11205290-11205810	MCF-7	breast:	n/a	n/a
34	BACH1	chr8:11204201-11206211	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAX	chr8:11205099-11205792	ECC-1	luminal epithelium:	n/a	n/a
36	YY1	chr8:11204382-11205631	K562	blood:	n/a	n/a
37	SIN3A	chr8:11204264-11205807	H1-hESC	embryonic stem cell:	n/a	chr8:11204883-11204894
38	MYC	chr8:11204404-11205759	K562	blood:	n/a	n/a
39	POLR2A	chr8:11205573-11205643	K562	blood:	n/a	n/a
40	POLR2A	chr8:11204379-11205602	K562	blood:	n/a	n/a
41	YY1	chr8:11205372-11205664	ECC-1	luminal epithelium:	n/a	n/a
42	BHLHE40	chr8:11205469-11205676	K562	blood:	n/a	n/a
43	MAX	chr8:11204332-11205837	K562	blood:	n/a	n/a
44	ZBTB7A	chr8:11204800-11205624	K562	blood:	n/a	chr8:11205220-11205231

No.	Distal block	Cell Line	Cell type
1	chr8:11195675..11197986-chr8:11203854..11205997,2	MCF-7	breast:
2	chr8:11141950..11143471-chr8:11205387..11207796,2	K562	blood:
3	chr8:11202670..11208385-chr8:11211112..11215163,10	K562	blood:
4	chr8:11205483..11207435-chr8:11216914..11218469,2	MCF-7	breast:
5	chr8:11204525..11206554-chr8:11212652..11215291,3	MCF-7	breast:
6	chr8:11141452..11143588-chr8:11203845..11206287,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255020	TF binding region
ENSG00000154316	Chromatin interaction
ENSG00000104643	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10096194	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10098322	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10110557	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11250129	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11774673	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11775635	0.81[AFR][1000 genomes]
rs11781375	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11782706	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11784458	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11784544	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11991153	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11994376	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13248147	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13250270	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13253016	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13253735	0.81[AMR][1000 genomes]
rs13263127	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13266233	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13270679	0.83[AFR][1000 genomes]
rs1435273	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17741537	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17797894	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1897950	0.81[AFR][1000 genomes]
rs1897951	0.81[AFR][1000 genomes]
rs1962656	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2060456	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2060457	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2060459	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2293855	0.87[AFR][1000 genomes]
rs2293856	0.87[AFR][1000 genomes]
rs2293858	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2293859	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2293860	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2736277	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28507159	0.82[AFR][1000 genomes]
rs3174048	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34237267	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35392635	0.84[AFR][1000 genomes]
rs35631424	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35687566	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35747588	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3779891	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3808509	0.83[AFR][1000 genomes]
rs3808518	0.81[AFR][1000 genomes]
rs4394351	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4413734	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4568582	0.83[AFR][1000 genomes]
rs5029571	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58283816	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62488721	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6601580	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6988922	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6990563	0.80[EUR][1000 genomes]
rs6995404	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6996368	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7003241	0.82[AFR][1000 genomes]
rs7005469	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7008205	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7016671	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7815463	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7815802	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7815804	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7816636	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7817658	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7819395	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7820895	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7828711	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7831346	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7833966	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7834139	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7837036	0.84[AFR][1000 genomes]
rs7838897	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7839053	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	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
4	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1033312	chr8:11126800-11252170	Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	esv1821756	chr8:11169178-11217587	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv890354	chr8:11176147-11266131	Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv890355	chr8:11202154-11219334	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv890356	chr8:11202154-11223022	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7816601	MTMR9	Cis_1M	lymphoblastoid	RTeQTL
rs7816601	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11202800-11206200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:11202800-11207200	Active TSS	Pancreas	Pancrea
3	chr8:11203800-11206200	Bivalent Enhancer	Placenta	Placenta
4	chr8:11204000-11205800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr8:11204000-11206400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr8:11204200-11205600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr8:11204200-11205600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:11204200-11205600	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr8:11204200-11205600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:11204200-11205800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr8:11204200-11205800	Active TSS	Brain Substantia Nigra	brain
12	chr8:11204200-11206000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
13	chr8:11204200-11206200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr8:11204200-11206200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
15	chr8:11204200-11206400	Active TSS	Brain Anterior Caudate	brain
16	chr8:11204400-11205600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr8:11204400-11205600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:11204400-11205600	Active TSS	Brain Angular Gyrus	brain
19	chr8:11204400-11205600	Bivalent/Poised TSS	HepG2	liver
20	chr8:11204400-11205600	Active TSS	K562	blood
21	chr8:11204400-11205800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:11204400-11205800	Bivalent/Poised TSS	Left Ventricle	heart
23	chr8:11204400-11206000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:11204400-11206200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:11204400-11206200	Bivalent/Poised TSS	HSMM	muscle
26	chr8:11204400-11206400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr8:11204600-11205800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:11204600-11205800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:11204600-11205800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:11204600-11205800	Bivalent Enhancer	Small Intestine	intestine
31	chr8:11204600-11205800	Bivalent/Poised TSS	HSMMtube	muscle
32	chr8:11204600-11206000	Bivalent/Poised TSS	Fetal Kidney	kidney
33	chr8:11204600-11206000	Active TSS	Gastric	stomach
34	chr8:11204600-11206200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
35	chr8:11204800-11205600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:11204800-11205600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:11204800-11205600	Bivalent/Poised TSS	Fetal Lung	lung
38	chr8:11204800-11205600	Active TSS	NHLF	lung
39	chr8:11204800-11205600	Bivalent/Poised TSS	Osteobl	bone
40	chr8:11204800-11205800	Flanking Bivalent TSS/Enh	Ovary	ovary
41	chr8:11204800-11206000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr8:11204800-11206000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
43	chr8:11204800-11206000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr8:11204800-11206000	Active TSS	Placenta Amnion	Placenta Amnion
45	chr8:11204800-11206000	Bivalent/Poised TSS	Stomach Mucosa	stomach
46	chr8:11204800-11206200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
47	chr8:11205000-11205600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
48	chr8:11205000-11205600	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:11205000-11205600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr8:11205000-11205600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum

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