Variant report

Variant	rs2734824
Chromosome Location	chr8:103668264-103668265
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	RELA	chr8:103667726-103669247	GM15510	blood:	n/a	chr8:103669155-103669164 chr8:103669155-103669164
2	POLR2A	chr8:103665892-103671067	GM12878	blood:	n/a	n/a
3	EP300	chr8:103667908-103668565	GM12878	blood:	n/a	chr8:103667927-103667936 chr8:103668225-103668238
4	EGR1	chr8:103667478-103668688	ECC-1	luminal epithelium:	n/a	chr8:103667949-103667962 chr8:103668212-103668225 chr8:103668406-103668416 chr8:103668400-103668415 chr8:103668422-103668432
5	USF1	chr8:103668220-103668497	A549	lung:	n/a	chr8:103668428-103668444
6	EP300	chr8:103667722-103668956	ECC-1	luminal epithelium:	n/a	chr8:103667927-103667936 chr8:103668687-103668703 chr8:103668225-103668238
7	ELF1	chr8:103668217-103668809	GM12878	blood:	n/a	chr8:103668684-103668696 chr8:103668246-103668258 chr8:103668272-103668284
8	POLR2A	chr8:103658281-103671095	U87	brain:	n/a	n/a
9	POLR2A	chr8:103665935-103670221	GM12892	blood:	n/a	n/a
10	MAX	chr8:103667167-103670359	A549	lung:	n/a	chr8:103668327-103668342 chr8:103668327-103668336 chr8:103668331-103668340
11	MXI1	chr8:103667883-103668602	K562	blood:	n/a	chr8:103668330-103668339 chr8:103668328-103668337
12	TCF12	chr8:103665520-103669189	MCF-7	breast:	n/a	chr8:103667041-103667051 chr8:103667095-103667105 chr8:103666989-103666999
13	MAZ	chr8:103665768-103669993	Hela-S3	cervix:	n/a	chr8:103666317-103666326 chr8:103668327-103668342 chr8:103666996-103667006 chr8:103666326-103666336 chr8:103666639-103666649 chr8:103666814-103666823 chr8:103666700-103666710 chr8:103668327-103668336 chr8:103668331-103668340
14	EGR1	chr8:103667802-103668528	GM12878	blood:	n/a	chr8:103667949-103667962 chr8:103668212-103668225 chr8:103668406-103668416 chr8:103668400-103668415 chr8:103668422-103668432
15	POLR2A	chr8:103666482-103669994	SK-N-MC	brain:	n/a	n/a
16	SIN3AK20	chr8:103665549-103670042	MCF-7	breast:	n/a	n/a
17	RAD21	chr8:103668232-103668503	SK-N-SH_RA	brain:	n/a	n/a
18	FOXA2	chr8:103667712-103668524	A549	lung:	n/a	n/a
19	POLR2A	chr8:103668252-103668768	GM12891	blood:	n/a	n/a
20	POU2F2	chr8:103668230-103668703	GM12891	blood:	n/a	chr8:103668468-103668478 chr8:103668469-103668478 chr8:103668468-103668478 chr8:103668363-103668375 chr8:103668246-103668258 chr8:103668470-103668477
21	NANOG	chr8:103667841-103668412	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr8:103667337-103671078	GM12891	blood:	n/a	n/a
23	NFYB	chr8:103667540-103668676	K562	blood:	n/a	chr8:103668022-103668035 chr8:103668019-103668034 chr8:103668054-103668069 chr8:103668022-103668036 chr8:103668022-103668037 chr8:103668054-103668069 chr8:103668051-103668066 chr8:103668022-103668037 chr8:103668054-103668068
24	MXI1	chr8:103667087-103669768	Hela-S3	cervix:	n/a	chr8:103668330-103668339 chr8:103668328-103668337 chr8:103667095-103667104
25	MYC	chr8:103667929-103668453	HepG2	liver:	n/a	chr8:103668327-103668342 chr8:103668327-103668336 chr8:103668331-103668340
26	POLR2A	chr8:103665732-103669242	Hela-S3	cervix:	n/a	n/a
27	MYBL2	chr8:103667566-103668575	HepG2	liver:	n/a	n/a
28	USF2	chr8:103667933-103668485	H1-hESC	embryonic stem cell:	n/a	chr8:103668428-103668444
29	TAF1	chr8:103667471-103668353	ECC-1	luminal epithelium:	n/a	n/a
30	ZBTB7A	chr8:103666642-103670099	ECC-1	luminal epithelium:	n/a	chr8:103667727-103667736 chr8:103666866-103666875 chr8:103667201-103667208
31	BHLHE40	chr8:103667917-103668534	A549	lung:	n/a	chr8:103667919-103667935 chr8:103668428-103668444 chr8:103667920-103667936
32	SIN3A	chr8:103667423-103669122	GM12878	blood:	n/a	chr8:103668694-103668703 chr8:103667934-103667947 chr8:103668685-103668694 chr8:103668355-103668366
33	JUND	chr8:103667717-103668675	K562	blood:	n/a	chr8:103667751-103667765
34	POLR2A	chr8:103667313-103670033	PANC-1	pancreas:	n/a	n/a
35	POLR2A	chr8:103665774-103668767	K562	blood:	n/a	n/a
36	POLR2A	chr8:103665746-103670407	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr8:103665722-103669269	HCT-116	colon:	n/a	n/a
38	SMARCB1	chr8:103665893-103670245	Hela-S3	cervix:	n/a	chr8:103666203-103666212
39	CREB1	chr8:103667733-103668699	A549	lung:	n/a	n/a
40	STAT3	chr8:103667866-103668449	MCF10A-Er-Src	breast:	n/a	chr8:103668155-103668167
41	GATA3	chr8:103667436-103669989	A549	lung:	n/a	chr8:103669966-103669976 chr8:103669406-103669416
42	FOXA1	chr8:103667737-103668611	HepG2	liver:	n/a	n/a
43	CHD2	chr8:103667596-103668648	GM12878	blood:	n/a	chr8:103668628-103668638
44	USF1	chr8:103668230-103668475	A549	lung:	n/a	chr8:103668428-103668444
45	EBF1	chr8:103667823-103668576	GM12878	blood:	n/a	n/a
46	PML	chr8:103667608-103669008	MCF-7	breast:	n/a	n/a
47	TFAP2A	chr8:103667672-103670096	Hela-S3	cervix:	n/a	chr8:103669735-103669747 chr8:103669793-103669805 chr8:103668164-103668172 chr8:103668014-103668026 chr8:103668014-103668024 chr8:103669123-103669134 chr8:103669545-103669560 chr8:103669123-103669135 chr8:103668014-103668024 chr8:103669731-103669746 chr8:103668164-103668172 chr8:103669123-103669134 chr8:103668164-103668172 chr8:103669730-103669745 chr8:103669123-103669134 chr8:103668014-103668024 chr8:103667922-103667933
48	MAZ	chr8:103665775-103669282	GM12878	blood:	n/a	chr8:103666317-103666326 chr8:103668327-103668342 chr8:103666996-103667006 chr8:103666326-103666336 chr8:103666639-103666649 chr8:103666814-103666823 chr8:103666700-103666710 chr8:103668327-103668336 chr8:103668331-103668340
49	POLR2A	chr8:103665957-103669301	GM12878	blood:	n/a	n/a
50	USF1	chr8:103667817-103668857	ECC-1	luminal epithelium:	n/a	chr8:103667919-103667935 chr8:103668694-103668710 chr8:103668828-103668844 chr8:103668682-103668698 chr8:103668428-103668444 chr8:103667920-103667936

No.	Distal block	Cell Line	Cell type
1	chr5:64921692..64922217-chr8:103667690..103668612,2	Hela-S3	cervix:
2	chr17:57922210..57925041-chr8:103666708..103669073,2	MCF-7	breast:
3	chr3:57583355..57584000-chr8:103668011..103668674,2	Hela-S3	cervix:
4	chr11:60672587..60674671-chr8:103667348..103669319,2	MCF-7	breast:
5	chr8:103422007..103426020-chr8:103666229..103670037,6	K562	blood:
6	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
7	chr8:103667482..103670285-chr8:103698237..103701283,5	MCF-7	breast:
8	chr15:31616920..31619586-chr8:103667733..103670691,2	MCF-7	breast:
9	chr8:102504729..102507317-chr8:103666096..103668970,4	MCF-7	breast:
10	chr8:103420666..103426323-chr8:103664417..103668286,11	K562	blood:
11	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
12	chr8:103667409..103668879-chr8:103818175..103819938,6	MCF-7	breast:
13	chr8:103570250..103572915-chr8:103665541..103668437,2	MCF-7	breast:
14	chr8:102217029..102218923-chr8:103667742..103670301,2	MCF-7	breast:
15	chr17:58154613..58157285-chr8:103665934..103668850,2	MCF-7	breast:
16	chr8:103665615..103668454-chr9:19407713..19410281,2	MCF-7	breast:
17	chr8:103424815..103426910-chr8:103666602..103668807,2	MCF-7	breast:
18	chr8:103664543..103668719-chr8:103874742..103878936,8	MCF-7	breast:
19	chr8:103540947..103542816-chr8:103666262..103668771,2	K562	blood:
20	chr8:103666355..103668286-chr8:103744275..103747247,3	K562	blood:
21	chr20:60639221..60642112-chr8:103666965..103668940,2	MCF-7	breast:
22	chr8:103666250..103669123-chr8:103743664..103749128,10	MCF-7	breast:
23	chr6:27806319..27806852-chr8:103667961..103668475,2	HCT-116	colon:
24	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
25	chr8:103667505..103668484-chr8:103818650..103819608,4	MCF-7	breast:
26	chr22:51066083..51066839-chr8:103667533..103668409,2	HCT-116	colon:
27	chr6:74229302..74231632-chr8:103666566..103668459,2	MCF-7	breast:
28	chr11:62620136..62622532-chr8:103666422..103668667,2	K562	blood:
29	chr12:51157750..51158421-chr8:103667480..103668288,2	Hela-S3	cervix:
30	chr17:56160728..56161286-chr8:103667611..103668378,2	Hela-S3	cervix:
31	chr1:235490500..235491488-chr8:103667802..103668401,2	HCT-116	colon:
32	chr1:149222331..149224721-chr8:103666579..103669168,2	MCF-7	breast:
33	chr8:103666551..103669632-chr8:103873253..103876487,4	K562	blood:
34	chr17:34136056..34136938-chr8:103667597..103668388,2	Hela-S3	cervix:
35	chr17:73775313..73776010-chr8:103667593..103668308,2	MCF-7	breast:
36	chr8:103667252..103668985-chr8:145157486..145159881,2	MCF-7	breast:
37	chr8:103659827..103671648-chr8:103816894..103829599,93	K562	blood:

Variant related genes	Relation type
KLF10	TF binding region
ENSG00000156508	Chromatin interaction
ENSG00000253251	Chromatin interaction
ENSG00000130699	Chromatin interaction
ENSG00000113595	Chromatin interaction
ENSG00000168374	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000172660	Chromatin interaction
ENSG00000250684	Chromatin interaction
ENSG00000253633	Chromatin interaction
ENSG00000054267	Chromatin interaction
ENSG00000100299	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000257052	Chromatin interaction
ENSG00000068097	Chromatin interaction
ENSG00000265306	Chromatin interaction
ENSG00000179632	Chromatin interaction
ENSG00000272146	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000083307	Chromatin interaction
ENSG00000155087	Chromatin interaction
ENSG00000233822	Chromatin interaction
ENSG00000152904	Chromatin interaction
ENSG00000177076	Chromatin interaction
ENSG00000179526	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000266799	Chromatin interaction
ENSG00000123268	Chromatin interaction
ENSG00000267416	Chromatin interaction
ENSG00000120963	Chromatin interaction
ENSG00000110107	Chromatin interaction
ENSG00000264364	Chromatin interaction
ENSG00000169926	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12546601	0.89[ASN][1000 genomes]
rs12547574	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12548858	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12549399	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12674646	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12675196	0.84[ASN][1000 genomes]
rs12675239	0.84[ASN][1000 genomes]
rs12680362	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12680598	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12680908	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12682093	0.89[ASN][1000 genomes]
rs16869676	0.89[ASN][1000 genomes]
rs16869695	0.89[ASN][1000 genomes]
rs16869724	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2436946	0.87[ASN][1000 genomes]
rs2471847	0.90[ASN][1000 genomes]
rs2511701	0.83[EUR][1000 genomes]
rs2511718	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2511719	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2511730	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2916570	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3018443	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56929055	0.83[ASN][1000 genomes]
rs72685110	0.84[ASN][1000 genomes]
rs72685117	0.91[ASN][1000 genomes]
rs72685118	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72685123	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72685128	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73276720	0.86[ASN][1000 genomes]
rs980112	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1028329	chr8:103574775-103684362	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3409107	chr8:103665226-103668974	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	58 gene(s)	inside rSNPs	diseases
4	esv3387688	chr8:103665726-103668424	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	57 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	chr8:103664000-103669600	Active TSS	Psoas Muscle	Psoas
2	chr8:103664200-103669200	Active TSS	HSMMtube	muscle
3	chr8:103664200-103670000	Active TSS	Right Atrium	heart
4	chr8:103664400-103668800	Active TSS	Right Ventricle	heart
5	chr8:103664600-103668600	Active TSS	Stomach Smooth Muscle	stomach
6	chr8:103664800-103669800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:103665000-103668800	Active TSS	Fetal Intestine Large	intestine
8	chr8:103665000-103668800	Active TSS	Fetal Intestine Small	intestine
9	chr8:103665000-103668800	Active TSS	Placenta	Placenta
10	chr8:103665000-103669000	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr8:103665000-103670200	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr8:103665200-103668800	Active TSS	K562	blood
13	chr8:103665200-103669000	Active TSS	Colon Smooth Muscle	Colon
14	chr8:103665200-103669200	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr8:103665200-103670000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:103665200-103670000	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr8:103665200-103670000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:103665400-103668600	Active TSS	Fetal Muscle Leg	muscle
19	chr8:103665400-103668800	Active TSS	Primary monocytes fromperipheralblood	blood
20	chr8:103665400-103668800	Active TSS	Liver	Liver
21	chr8:103665400-103669000	Active TSS	H1 Cell Line	embryonic stem cell
22	chr8:103665400-103669000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:103665400-103669000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:103665400-103669600	Active TSS	GM12878-XiMat	blood
25	chr8:103665600-103668800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:103665600-103668800	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr8:103665600-103669000	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr8:103665600-103669000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:103665600-103669000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:103665600-103669200	Active TSS	Aorta	Aorta
31	chr8:103665600-103669200	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr8:103665600-103669200	Active TSS	Fetal Kidney	kidney
33	chr8:103665600-103670000	Active TSS	H9 Cell Line	embryonic stem cell
34	chr8:103665800-103668600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:103665800-103668800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:103665800-103668800	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr8:103665800-103668800	Active TSS	Esophagus	oesophagus
38	chr8:103665800-103668800	Active TSS	NHEK	skin
39	chr8:103665800-103668800	Active TSS	NHLF	lung
40	chr8:103665800-103669000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:103665800-103669000	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr8:103665800-103669000	Active TSS	Pancreas	Pancrea
43	chr8:103665800-103669000	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr8:103665800-103669000	Active TSS	Small Intestine	intestine
45	chr8:103665800-103669000	Active TSS	Hela-S3	cervix
46	chr8:103665800-103669200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:103665800-103669200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:103665800-103669200	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr8:103665800-103669200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:103665800-103669200	Active TSS	Muscle Satellite Cultured Cells	--

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