Variant report

Variant	rs2304352
Chromosome Location	chr8:103877515-103877516
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:47)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:47 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:103877280-103878370	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr8:103875053-103878061	K562	blood:	n/a	n/a
3	POLR2A	chr8:103876103-103877556	K562	blood:	n/a	n/a
4	CUX1	chr8:103877250-103877865	K562	blood:	n/a	chr8:103877343-103877357
5	TBP	chr8:103874663-103877597	K562	blood:	n/a	n/a
6	MAX	chr8:103876122-103877548	NB4	blood:	n/a	chr8:103876711-103876721 chr8:103877043-103877052
7	POLR2A	chr8:103875975-103878171	GM12891	blood:	n/a	n/a
8	POLR2A	chr8:103877292-103877725	H1-hESC	embryonic stem cell:	n/a	n/a
9	WRNIP1	chr8:103877492-103878054	GM12878	blood:	n/a	n/a
10	POLR2A	chr8:103875073-103877661	Raji	blood:	n/a	n/a
11	MYC	chr8:103876021-103877528	K562	blood:	n/a	chr8:103876711-103876721 chr8:103876030-103876039 chr8:103877043-103877052
12	POLR2A	chr8:103877353-103877716	HepG2	liver:	n/a	n/a
13	POLR2A	chr8:103876071-103878170	GM12878	blood:	n/a	n/a
14	NFE2	chr8:103877398-103877561	GM12878	blood:	n/a	n/a
15	MAZ	chr8:103874644-103877775	IMR90	lung:	n/a	chr8:103876711-103876721 chr8:103876030-103876039 chr8:103877043-103877052
16	SIN3AK20	chr8:103874449-103878043	MCF-7	breast:	n/a	n/a
17	EP300	chr8:103876101-103877529	GM12878	blood:	n/a	chr8:103876785-103876801 chr8:103877495-103877505 chr8:103876207-103876216
18	POLR2A	chr8:103876112-103877584	K562	blood:	n/a	n/a
19	MXI1	chr8:103876044-103877582	GM12878	blood:	n/a	n/a
20	POLR2A	chr8:103875967-103877708	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr8:103875968-103878456	PANC-1	pancreas:	n/a	n/a
22	MYC	chr8:103875931-103877611	A549	lung:	n/a	chr8:103876711-103876721 chr8:103876030-103876039 chr8:103877043-103877052
23	POLR2A	chr8:103874824-103877672	K562	blood:	n/a	n/a
24	POLR2A	chr8:103874917-103877650	Hela-S3	cervix:	n/a	n/a
25	MXI1	chr8:103874237-103878385	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr8:103877484-103877677	H1-hESC	embryonic stem cell:	n/a	n/a
27	MXI1	chr8:103874629-103877786	IMR90	lung:	n/a	n/a
28	MTA3	chr8:103876635-103878280	GM12878	blood:	n/a	n/a
29	POLR2A	chr8:103875911-103878306	SK-N-MC	brain:	n/a	n/a
30	POLR2A	chr8:103875994-103878132	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr8:103874888-103877698	GM19099	blood:	n/a	n/a
32	POLR2A	chr8:103874868-103878363	GM12892	blood:	n/a	n/a
33	POLR2A	chr8:103873647-103878981	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr8:103877288-103877705	GM12878	blood:	n/a	n/a
35	MYC	chr8:103876303-103877598	MCF10A-Er-Src	breast:	n/a	chr8:103876711-103876721 chr8:103877043-103877052
36	POLR2A	chr8:103877282-103877757	GM12878	blood:	n/a	n/a
37	SIN3AK20	chr8:103874657-103877598	HCT-116	colon:	n/a	n/a
38	PML	chr8:103875897-103877688	GM12878	blood:	n/a	chr8:103876330-103876338
39	RELA	chr8:103876040-103877527	GM15510	blood:	n/a	n/a
40	POLR2A	chr8:103876072-103878182	K562	blood:	n/a	n/a
41	CHD1	chr8:103874218-103877850	IMR90	lung:	n/a	chr8:103875769-103875779 chr8:103876251-103876258 chr8:103875447-103875457
42	POLR2A	chr8:103876072-103878062	HepG2	liver:	n/a	n/a
43	POLR2A	chr8:103875929-103877607	GM12892	blood:	n/a	n/a
44	POLR2A	chr8:103876145-103877659	HCT-116	colon:	n/a	n/a
45	POLR2A	chr8:103875860-103878126	GM12878	blood:	n/a	n/a
46	NR2F2	chr8:103875965-103877543	K562	blood:	n/a	n/a
47	CHD1	chr8:103874255-103877941	H1-hESC	embryonic stem cell:	n/a	chr8:103875769-103875779 chr8:103876251-103876258 chr8:103875447-103875457

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103875223..103878430-chr8:103902326..103905508,3	K562	blood:
2	chr8:103817889..103824823-chr8:103872385..103879164,18	MCF-7	breast:
3	chr8:103422749..103426860-chr8:103874401..103878662,6	MCF-7	breast:
4	chr8:103874946..103878144-chr8:103904857..103910279,6	MCF-7	breast:
5	chr8:103818013..103820619-chr8:103873753..103877719,3	K562	blood:
6	chr8:103874816..103877664-chr8:103936329..103938732,4	MCF-7	breast:
7	chr8:103845693..103863418-chr8:103873617..103879329,26	MCF-7	breast:
8	chr8:102216466..102219803-chr8:103875379..103878352,3	K562	blood:
9	chr8:103876345..103878103-chr8:104425943..104427544,2	K562	blood:
10	chr8:103874072..103879942-chr8:103913926..103921009,16	MCF-7	breast:
11	chr8:103873594..103879966-chr8:104029090..104036191,28	MCF-7	breast:
12	chr8:103875054..103878103-chr8:104425943..104429059,5	K562	blood:
13	chr8:103875112..103879316-chr8:103972204..103974673,4	MCF-7	breast:
14	chr12:57913034..57914671-chr8:103876019..103877740,2	MCF-7	breast:
15	chr8:103664543..103668719-chr8:103874742..103878936,8	MCF-7	breast:
16	chr8:103873381..103878542-chr8:103897806..103904719,11	MCF-7	breast:
17	chr8:103874643..103878099-chr8:104031324..104040310,20	MCF-7	breast:
18	chr8:103875552..103877856-chr8:104031071..104034645,4	K562	blood:
19	chr8:103875112..103878223-chr8:103936319..103939684,4	K562	blood:
20	chr8:103873731..103878652-chr8:103915000..103924941,17	MCF-7	breast:
21	chr8:103875189..103878093-chr8:103942369..103944654,3	K562	blood:
22	chr7:100470857..100473840-chr8:103875332..103878147,2	K562	blood:
23	chr8:103877044..103878892-chr8:103894201..103897134,2	K562	blood:
24	chr8:103816389..103823057-chr8:103875264..103878654,9	K562	blood:
25	chr1:10457879..10460190-chr8:103875742..103877594,2	MCF-7	breast:
26	chr8:103817439..103824960-chr8:103872390..103877790,15	MCF-7	breast:
27	chr6:37664126..37664626-chr8:103877139..103878079,2	HCT-116	colon:
28	chr8:103876310..103878750-chr8:103935739..103937868,3	MCF-7	breast:
29	chr8:103873561..103877987-chr8:104030387..104035295,15	K562	blood:
30	chr8:103874632..103878836-chr8:104074842..104078968,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KB-1507C5.2.1-4	chr8:103877331-103877536	NONHSAT128120

No data

Variant related genes	Relation type
AZIN1	TF binding region
ENSG00000208028	Chromatin interaction
ENSG00000112139	Chromatin interaction
ENSG00000155097	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000164933	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000142657	Chromatin interaction
ENSG00000244052	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000254236	Chromatin interaction
ENSG00000120963	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000265898	Chromatin interaction
ENSG00000087087	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000164934	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000253263	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10100951	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10107743	1.00[JPT][hapmap]
rs10112564	0.88[ASN][1000 genomes]
rs16869801	1.00[JPT][hapmap]
rs16869842	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16869843	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2304347	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2304350	0.84[ASN][1000 genomes]
rs3824223	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59761337	0.88[ASN][1000 genomes]
rs7841632	0.84[ASN][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	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	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv465751	chr8:103817106-103894326	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv611822	chr8:103817106-103894326	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv891245	chr8:103838004-103907253	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	esv3445834	chr8:103874576-103877824	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103872800-103878000	Active TSS	H1 Cell Line	embryonic stem cell
2	chr8:103873000-103877600	Active TSS	GM12878-XiMat	blood
3	chr8:103873000-103877800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr8:103873400-103877600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:103873600-103877800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:103873800-103877600	Active TSS	HSMM	muscle
7	chr8:103873800-103877800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr8:103874000-103877600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:103874200-103877800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr8:103874200-103877800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:103874600-103877600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:103874600-103877600	Active TSS	Fetal Muscle Trunk	muscle
13	chr8:103875000-103877600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:103875000-103877600	Active TSS	Aorta	Aorta
15	chr8:103875000-103877600	Active TSS	Colonic Mucosa	Colon
16	chr8:103875000-103877600	Active TSS	Fetal Stomach	stomach
17	chr8:103875000-103877800	Active TSS	Stomach Mucosa	stomach
18	chr8:103875200-103877600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:103875200-103877600	Active TSS	K562	blood
20	chr8:103875200-103877800	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr8:103875200-103877800	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr8:103875200-103877800	Active TSS	NHLF	lung
23	chr8:103876200-103878200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:103876400-103877800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:103876600-103877600	Active TSS	Right Atrium	heart
26	chr8:103876600-103878000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr8:103876800-103877600	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr8:103876800-103877600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr8:103876800-103877600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr8:103876800-103877600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr8:103876800-103877800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr8:103876800-103877800	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr8:103877000-103877600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:103877000-103877600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
35	chr8:103877000-103877600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr8:103877000-103877600	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr8:103877000-103877600	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr8:103877000-103877600	Flanking Active TSS	Fetal Thymus	thymus
39	chr8:103877000-103877600	Flanking Active TSS	Rectal Smooth Muscle	rectum
40	chr8:103877000-103877600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr8:103877000-103877600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr8:103877000-103877600	Flanking Active TSS	Hela-S3	cervix
43	chr8:103877000-103877800	Flanking Active TSS	Fetal Lung	lung
44	chr8:103877000-103877800	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr8:103877000-103877800	Flanking Active TSS	HMEC	breast
46	chr8:103877000-103877800	Flanking Active TSS	Osteobl	bone
47	chr8:103877000-103878000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:103877000-103878000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr8:103877000-103878000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:103877000-103878000	Flanking Active TSS	Brain Anterior Caudate	brain

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