Variant report

Variant	rs10109265
Chromosome Location	chr8:61197710-61197711
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr8:61197519-61198046	K562	blood:	n/a	n/a
2	JUN	chr8:61197426-61197787	K562	blood:	n/a	chr8:61197594-61197603 chr8:61197593-61197606
3	CEBPD	chr8:61197587-61198114	K562	blood:	n/a	n/a
4	JUND	chr8:61197216-61198018	K562	blood:	n/a	chr8:61197594-61197603
5	USF1	chr8:61197454-61198094	K562	blood:	n/a	n/a
6	MYC	chr8:61197461-61198070	K562	blood:	n/a	chr8:61197637-61197647
7	ATF3	chr8:61197499-61197769	K562	blood:	n/a	n/a
8	STAT5A	chr8:61197535-61197912	K562	blood:	n/a	n/a
9	JUN	chr8:61197191-61198123	K562	blood:	n/a	chr8:61197594-61197603 chr8:61197593-61197606
10	ZNF384	chr8:61197472-61198345	K562	blood:	n/a	n/a
11	GATA1	chr8:61197498-61198096	PBDE	blood:	n/a	chr8:61197866-61197873 chr8:61197866-61197873 chr8:61197866-61197873
12	USF1	chr8:61197435-61197776	H1-hESC	embryonic stem cell:	n/a	n/a
13	TEAD4	chr8:61197403-61198076	K562	blood:	n/a	n/a
14	MAX	chr8:61197495-61198166	K562	blood:	n/a	chr8:61197637-61197647
15	USF1	chr8:61197493-61198005	K562	blood:	n/a	n/a
16	TEAD4	chr8:61197456-61198077	K562	blood:	n/a	n/a
17	EP300	chr8:61197424-61197843	GM12878	blood:	n/a	chr8:61197808-61197822
18	MYC	chr8:61197509-61198052	K562	blood:	n/a	chr8:61197637-61197647
19	NR2F2	chr8:61197442-61198025	K562	blood:	n/a	n/a
20	TAL1	chr8:61197375-61198085	K562	blood:	n/a	chr8:61197865-61197873
21	POLR2A	chr8:61197471-61198008	K562	blood:	n/a	n/a
22	JUN	chr8:61197484-61197730	HepG2	liver:	n/a	chr8:61197594-61197603 chr8:61197593-61197606
23	BHLHE40	chr8:61197483-61198088	K562	blood:	n/a	n/a
24	MAX	chr8:61197491-61197780	K562	blood:	n/a	chr8:61197637-61197647
25	MYC	chr8:61197664-61197720	K562	blood:	n/a	n/a
26	MAZ	chr8:61197507-61197866	K562	blood:	n/a	n/a
27	CEBPB	chr8:61197413-61197906	K562	blood:	n/a	chr8:61197732-61197740
28	NR2F2	chr8:61197296-61198071	K562	blood:	n/a	n/a
29	MAX	chr8:61197499-61197910	K562	blood:	n/a	chr8:61197637-61197647
30	JUN	chr8:61197423-61197885	K562	blood:	n/a	chr8:61197594-61197603 chr8:61197593-61197606
31	ARID3A	chr8:61197479-61198031	K562	blood:	n/a	n/a
32	CCNT2	chr8:61197491-61197891	K562	blood:	n/a	n/a
33	MAX	chr8:61197544-61197751	H1-hESC	embryonic stem cell:	n/a	chr8:61197637-61197647
34	MAFF	chr8:61197537-61198002	K562	blood:	n/a	n/a
35	TBL1XR1	chr8:61197593-61197995	K562	blood:	n/a	n/a
36	NFYB	chr8:61197464-61197816	K562	blood:	n/a	chr8:61197729-61197742
37	RCOR1	chr8:61197486-61198146	K562	blood:	n/a	n/a
38	CBX3	chr8:61197413-61198091	K562	blood:	n/a	n/a
39	JUN	chr8:61197415-61197999	K562	blood:	n/a	chr8:61197594-61197603 chr8:61197593-61197606
40	MAX	chr8:61197488-61197875	K562	blood:	n/a	chr8:61197637-61197647
41	JUND	chr8:61197466-61197746	HepG2	liver:	n/a	chr8:61197594-61197603
42	CEBPB	chr8:61197463-61197810	K562	blood:	n/a	chr8:61197732-61197740
43	ZNF274	chr8:61197530-61198120	K562	blood:	n/a	n/a
44	ATF1	chr8:61197412-61197927	K562	blood:	n/a	n/a
45	MAFK	chr8:61197088-61197798	K562	blood:	n/a	chr8:61197373-61197387
46	EP300	chr8:61197410-61198030	K562	blood:	n/a	chr8:61197808-61197822
47	USF2	chr8:61197493-61197870	K562	blood:	n/a	n/a
48	TBL1XR1	chr8:61197372-61198083	K562	blood:	n/a	n/a
49	ATF3	chr8:61197384-61197812	K562	blood:	n/a	n/a
50	NFYA	chr8:61197431-61197845	K562	blood:	n/a	chr8:61197729-61197742

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:61197710-61197760	HEEpiC	esophagus:	n/a
2	chr8:61197710-61197760	MCF-7	breast:	n/a
3	chr8:61197710-61197760	HEK293	kidney:	embryo
4	chr8:61197710-61197760	BE2_C	brain:	n/a
5	chr8:61197710-61197760	PANC-1	pancreas:	n/a
6	chr8:61197710-61197760	K562	blood:	n/a
7	chr8:61197710-61197760	ProgFib	skin:	n/a
8	chr8:61197710-61197760	HCT-116	colon:	n/a
9	chr8:61197710-61197760	T-47D	breast:	n/a
10	chr8:61197710-61197760	GM19239	blood:	n/a
11	chr8:61197710-61197760	SK-N-MC	brain:	n/a
12	chr8:61197710-61197760	IMR90	lung:	fetal
13	chr8:61197710-61197760	PrEC	prostate:	n/a
14	chr8:61197710-61197760	HCF	heart:	n/a
15	chr8:61197710-61197760	AG10803	skin:	n/a
16	chr8:61197710-61197760	H1-hESC	embryonic stem cell:	embryo
17	chr8:61197710-61197760	Hepatocyte	liver:	n/a
18	chr8:61197710-61197760	CMK	blood:	n/a
19	chr8:61197710-61197760	Hela-S3	cervix:	n/a
20	chr8:61197710-61197760	HL-60	blood:	n/a
21	chr8:61197710-61197760	ECC-1	luminal epithelium:	n/a
22	chr8:61197710-61197760	HPAEpiC	pulmonary alveolar:	n/a
23	chr8:61197710-61197760	AoSMC	blood vessel:	n/a
24	chr8:61197710-61197760	GM12892	blood:	n/a
25	chr8:61197710-61197760	NHDF-neo	bronchial:	n/a
26	chr8:61197710-61197760	NH-A	brain:	n/a
27	chr8:61197710-61197760	Caco-2	colon:	n/a
28	chr8:61197710-61197760	HUVEC	blood vessel:	n/a
29	chr8:61197710-61197760	RPTEC	kidney:	n/a
30	chr8:61197710-61197760	HRE	kidney:	n/a
31	chr8:61197710-61197760	HMEC	breast:	n/a
32	chr8:61197710-61197760	PFSK-1	brain:	n/a
33	chr8:61197710-61197760	HCM	heart:	n/a
34	chr8:61197710-61197760	A549	lung:	n/a
35	chr8:61197710-61197760	HCPEpiC	choroid plexus:	n/a
36	chr8:61197710-61197760	AG04449	skin:	fetal
37	chr8:61197710-61197760	U87	brain:	n/a
38	chr8:61197710-61197760	HNPCEpiC	eye:	n/a
39	chr8:61197710-61197760	AG09309	skin:	n/a
40	chr8:61197710-61197760	HepG2	liver:	n/a
41	chr8:61197710-61197760	AG09319	gingival:	n/a
42	chr8:61197710-61197760	HRCEpiC	kidney:	n/a
43	chr8:61197710-61197760	HRPEpiC	eye:	n/a
44	chr8:61197710-61197760	GM12878	blood:	n/a
45	chr8:61197710-61197760	HAEpiC	amniotic membrane:	n/a
46	chr8:61197710-61197760	GM06990	blood:	n/a
47	chr8:61197710-61197760	NB4	blood:	n/a
48	chr8:61197710-61197760	Jurkat	blood:	n/a
49	chr8:61197710-61197760	SAEC	small airway:	n/a
50	chr8:61197710-61197760	AG04450	lung:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr8:61197631..61199694-chr8:61208283..61210398,2	K562	blood:
2	chr8:61192442..61196221-chr8:61196731..61199098,4	MCF-7	breast:
3	chr8:61116674..61118550-chr8:61196001..61198215,2	MCF-7	breast:

No data

Variant related genes	Relation type
CA8	TF binding region
CA8	CpG island
ENSG00000178538	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10086200	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10086352	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10086449	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10089297	0.82[EUR][1000 genomes]
rs10093008	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10094224	0.81[EUR][1000 genomes]
rs10094326	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10094523	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10097537	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10097613	0.82[EUR][1000 genomes]
rs10098038	0.82[EUR][1000 genomes]
rs10101157	0.81[EUR][1000 genomes]
rs10105094	0.81[EUR][1000 genomes]
rs10105098	0.82[EUR][1000 genomes]
rs10105158	0.81[EUR][1000 genomes]
rs10109487	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10112099	0.82[EUR][1000 genomes]
rs10112677	0.81[EUR][1000 genomes]
rs10435600	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10957125	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11774698	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11774872	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11778498	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11781514	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13266513	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13267008	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13269899	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13274525	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13280153	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13280906	0.82[EUR][1000 genomes]
rs13281067	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13281126	0.82[EUR][1000 genomes]
rs13282489	0.81[EUR][1000 genomes]
rs1480340	0.80[EUR][1000 genomes]
rs1480341	0.82[EUR][1000 genomes]
rs28371059	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28376554	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28429093	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28481384	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28532174	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28643410	0.83[EUR][1000 genomes]
rs28759336	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35256935	0.82[EUR][1000 genomes]
rs35503542	0.82[EUR][1000 genomes]
rs35552143	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4351453	0.82[EUR][1000 genomes]
rs4527913	0.81[EUR][1000 genomes]
rs4584176	0.82[EUR][1000 genomes]
rs6471851	0.82[ASN][1000 genomes]
rs6471852	0.82[ASN][1000 genomes]
rs6471853	0.82[ASN][1000 genomes]
rs6471855	0.82[ASN][1000 genomes]
rs6471856	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6471857	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6471858	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6471859	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6983247	0.81[EUR][1000 genomes]
rs6983830	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6987786	0.82[ASN][1000 genomes]
rs6988169	0.82[ASN][1000 genomes]
rs6990370	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6998745	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7002077	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7002369	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7003287	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7006734	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7007157	0.82[ASN][1000 genomes]
rs7009243	0.82[ASN][1000 genomes]
rs7009482	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7463930	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7463939	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7464181	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7465560	0.82[EUR][1000 genomes]
rs7812953	0.80[ASN][1000 genomes]
rs7814280	0.82[ASN][1000 genomes]
rs7814473	0.82[ASN][1000 genomes]
rs7815042	0.80[EUR][1000 genomes]
rs7824986	0.80[EUR][1000 genomes]
rs7826329	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7832414	0.80[EUR][1000 genomes]
rs7832419	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7840279	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7841372	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7841458	0.82[EUR][1000 genomes]
rs7841804	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7843385	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7845524	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9298028	0.82[EUR][1000 genomes]
rs9298029	0.82[EUR][1000 genomes]
rs9298031	0.82[EUR][1000 genomes]
rs9298032	0.81[EUR][1000 genomes]
rs9298033	0.82[EUR][1000 genomes]
rs9643367	0.82[ASN][1000 genomes]
rs9643368	0.82[ASN][1000 genomes]
rs9657070	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1022752	chr8:61095248-61322302	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv831333	chr8:61102862-61275122	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv890943	chr8:61134995-61225652	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv831334	chr8:61148796-61330190	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10109265	CA8	cis	lung	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61194000-61198600	Weak transcription	Gastric	stomach
2	chr8:61194800-61198600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:61195000-61197800	Enhancers	K562	blood
4	chr8:61195200-61197800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:61195200-61198600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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