Variant report

Variant	rs10096194
Chromosome Location	chr8:11207672-11207673
allele	A/C/G
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	MAX	chr8:11207563-11208137	K562	blood:	n/a	chr8:11207915-11207924
2	CBX3	chr8:11207603-11208161	K562	blood:	n/a	n/a
3	STAT5A	chr8:11207609-11208746	K562	blood:	n/a	n/a
4	POLR2A	chr8:11207570-11208196	K562	blood:	n/a	n/a
5	CEBPD	chr8:11207631-11208228	K562	blood:	n/a	n/a
6	IRF1	chr8:11207659-11208567	K562	blood:	n/a	n/a
7	CREB1	chr8:11207567-11208771	K562	blood:	n/a	n/a
8	POLR2A	chr8:11207595-11208280	K562	blood:	n/a	n/a
9	MXI1	chr8:11207588-11208499	SK-N-SH	brain:	n/a	n/a
10	CEBPD	chr8:11207619-11208681	K562	blood:	n/a	n/a
11	JUN	chr8:11207664-11208519	K562	blood:	n/a	chr8:11207916-11207924 chr8:11207914-11207926 chr8:11207962-11207973
12	FOSL1	chr8:11207667-11208115	K562	blood:	n/a	chr8:11207916-11207924 chr8:11207914-11207926 chr8:11207962-11207973 chr8:11207914-11207925
13	PML	chr8:11207647-11208746	K562	blood:	n/a	chr8:11208204-11208212
14	GATA2	chr8:11207640-11208728	K562	blood:	n/a	chr8:11207984-11207996 chr8:11208096-11208106
15	NR2F2	chr8:11207614-11208662	K562	blood:	n/a	n/a
16	EP300	chr8:11207389-11208736	K562	blood:	n/a	chr8:11208121-11208131
17	TRIM28	chr8:11207550-11208705	K562	blood:	n/a	chr8:11208204-11208212
18	PML	chr8:11207572-11208804	K562	blood:	n/a	chr8:11208204-11208212
19	JUN	chr8:11207245-11208706	K562	blood:	n/a	chr8:11207916-11207924 chr8:11207914-11207926 chr8:11207962-11207973
20	MYC	chr8:11207671-11208629	K562	blood:	n/a	chr8:11207915-11207924
21	ZBTB7A	chr8:11207669-11208083	K562	blood:	n/a	chr8:11207932-11207941
22	E2F6	chr8:11207634-11208059	K562	blood:	n/a	n/a
23	BHLHE40	chr8:11207644-11208566	K562	blood:	n/a	n/a
24	GATA1	chr8:11206280-11208770	K562	blood:	n/a	chr8:11207984-11207996 chr8:11208096-11208106
25	USF1	chr8:11207630-11208168	K562	blood:	n/a	n/a
26	TEAD4	chr8:11207534-11208714	K562	blood:	n/a	n/a
27	EGR1	chr8:11207671-11208095	K562	blood:	n/a	chr8:11207932-11207945 chr8:11207931-11207946 chr8:11207872-11207887
28	GABPA	chr8:11207670-11208082	K562	blood:	n/a	n/a
29	TEAD4	chr8:11207523-11208692	K562	blood:	n/a	n/a
30	MAX	chr8:11207633-11208149	K562	blood:	n/a	chr8:11207915-11207924
31	POLR2A	chr8:11207630-11208225	K562	blood:	n/a	n/a
32	POLR2A	chr8:11207640-11208152	K562	blood:	n/a	n/a
33	TAL1	chr8:11207668-11208707	K562	blood:	n/a	n/a
34	E2F6	chr8:11207624-11208132	K562	blood:	n/a	n/a
35	EP300	chr8:11207015-11208357	SK-N-SH	brain:	n/a	chr8:11208121-11208131
36	NR2F2	chr8:11207544-11208815	K562	blood:	n/a	n/a
37	CBX3	chr8:11207602-11208626	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:11202674..11205995-chr8:11206285..11210798,7	K562	blood:
2	chr8:11141950..11143471-chr8:11205387..11207796,2	K562	blood:
3	chr8:11202670..11208385-chr8:11211112..11215163,10	K562	blood:
4	chr8:11140914..11143471-chr8:11206296..11209213,2	K562	blood:
5	chr8:11202546..11204675-chr8:11207385..11211000,3	MCF-7	breast:
6	chr8:11205933..11210781-chr8:11211287..11215199,6	K562	blood:

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

Extended variants
information (count: 98 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10098322	0.96[CEU][hapmap];0.94[JPT][hapmap];0.84[YRI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10110557	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1047950	0.80[CEU][hapmap]
rs10503421	0.96[CEU][hapmap]
rs11250127	0.85[CEU][hapmap]
rs11250129	0.88[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11774673	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11781375	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11782706	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11784458	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11784544	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11991153	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11994376	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12681987	0.89[CEU][hapmap]
rs13248147	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13250270	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13253016	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13253735	0.85[YRI][hapmap]
rs13263127	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13266233	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1435273	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1435277	0.82[CEU][hapmap]
rs17741537	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17797443	0.83[CEU][hapmap]
rs17797894	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1897950	0.82[CEU][hapmap]
rs1962656	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2060456	1.00[CEU][hapmap];0.81[CHB][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2060457	0.96[CEU][hapmap];0.81[CHB][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2060459	1.00[CEU][hapmap];0.81[CHB][hapmap];0.93[YRI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2060465	0.82[CEU][hapmap]
rs2164272	0.82[CEU][hapmap]
rs2164273	0.82[CEU][hapmap]
rs2293855	0.92[YRI][hapmap]
rs2293856	0.80[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap]
rs2293858	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2293859	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2293860	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2572371	0.92[CEU][hapmap]
rs2572452	0.89[CEU][hapmap]
rs2736270	0.83[CEU][hapmap]
rs2736277	0.84[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2736280	0.85[CEU][hapmap]
rs2736282	0.89[CEU][hapmap]
rs2736283	0.89[CEU][hapmap]
rs3174048	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34237267	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35631424	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35687566	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35747588	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3779891	1.00[CEU][hapmap];0.80[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3808509	0.83[CEU][hapmap];0.86[YRI][hapmap]
rs3808513	0.82[CEU][hapmap];0.88[JPT][hapmap];0.92[YRI][hapmap]
rs3808518	0.85[YRI][hapmap]
rs4394351	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4413734	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4568582	0.82[CEU][hapmap]
rs5029571	1.00[CEU][hapmap];0.81[CHB][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58283816	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62488721	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6601578	0.92[YRI][hapmap]
rs6601580	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6601582	0.83[CEU][hapmap]
rs6985146	0.82[CEU][hapmap]
rs6985460	0.82[CEU][hapmap]
rs6988922	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6991606	0.83[CEU][hapmap];0.86[YRI][hapmap]
rs6995404	0.96[CEU][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6996368	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7005469	1.00[CEU][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7008205	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7016671	0.96[CEU][hapmap];0.82[JPT][hapmap];0.92[YRI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7815463	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7815802	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7815804	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7816601	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7816636	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7817658	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7819395	0.96[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7820895	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7828711	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7831346	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7833966	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7834139	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7838897	0.96[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7839053	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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
rs10096194	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs10096194	MTMR9	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11205600-11208400	Flanking Active TSS	K562	blood
2	chr8:11206200-11225000	Weak transcription	Psoas Muscle	Psoas
3	chr8:11206400-11226400	Weak transcription	Brain Anterior Caudate	brain
4	chr8:11207200-11207800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:11207200-11207800	Weak transcription	Pancreas	Pancrea
6	chr8:11207200-11223600	Weak transcription	Brain Hippocampus Middle	brain

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