Variant report

Variant	rs73402303
Chromosome Location	chr6:33385006-33385007
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:130)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:130 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr6:33384952-33385345	K562	blood:	n/a	n/a
2	POLR2A	chr6:33384094-33387006	PFSK-1	brain:	n/a	n/a
3	JUN	chr6:33384878-33385199	K562	blood:	n/a	n/a
4	USF1	chr6:33384939-33386624	K562	blood:	n/a	chr6:33386119-33386128 chr6:33386118-33386131 chr6:33386120-33386129 chr6:33386120-33386129
5	POLR2A	chr6:33384822-33385288	GM12878	blood:	n/a	n/a
6	EP300	chr6:33384651-33385202	K562	blood:	n/a	n/a
7	SIN3AK20	chr6:33384831-33385303	SK-N-SH	brain:	n/a	n/a
8	JUN	chr6:33384157-33388027	K562	blood:	n/a	chr6:33387272-33387283 chr6:33386177-33386186 chr6:33386981-33386990 chr6:33386847-33386856
9	STAT5A	chr6:33384012-33385926	GM12878	blood:	n/a	n/a
10	JUN	chr6:33384995-33385136	HepG2	liver:	n/a	n/a
11	POLR2A	chr6:33384214-33385118	GM12892	blood:	n/a	n/a
12	PML	chr6:33384160-33385272	K562	blood:	n/a	n/a
13	POLR2A	chr6:33384847-33385232	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr6:33384811-33385302	U87	brain:	n/a	n/a
15	POLR2A	chr6:33384202-33385365	GM12891	blood:	n/a	n/a
16	FOSL1	chr6:33384820-33385417	K562	blood:	n/a	chr6:33385017-33385028
17	TAF1	chr6:33384999-33386859	H1-neurons	neurons:	n/a	n/a
18	MAX	chr6:33384966-33386765	HepG2	liver:	n/a	chr6:33386120-33386129 chr6:33385874-33385884 chr6:33385899-33385909 chr6:33386201-33386210 chr6:33386200-33386211
19	NR2F2	chr6:33384437-33387030	K562	blood:	n/a	n/a
20	BCLAF1	chr6:33384123-33385050	GM12878	blood:	n/a	n/a
21	POLR2A	chr6:33384269-33387286	K562	blood:	n/a	n/a
22	MAX	chr6:33384829-33385144	Hela-S3	cervix:	n/a	n/a
23	MAX	chr6:33384832-33386610	A549	lung:	n/a	chr6:33386120-33386129 chr6:33385874-33385884 chr6:33385899-33385909 chr6:33386201-33386210 chr6:33386200-33386211
24	POLR2A	chr6:33384437-33385313	K562	blood:	n/a	n/a
25	HCFC1	chr6:33384636-33386789	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr6:33384325-33385196	A549	lung:	n/a	n/a
27	REST	chr6:33384793-33386939	H1-neurons	neurons:	n/a	n/a
28	MAZ	chr6:33384871-33385255	K562	blood:	n/a	n/a
29	POLR2A	chr6:33384907-33385173	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr6:33384839-33385253	HUVEC	blood vessel:	n/a	n/a
31	MAX	chr6:33384906-33385152	K562	blood:	n/a	n/a
32	POLR2A	chr6:33384356-33385249	HepG2	liver:	n/a	n/a
33	POLR2A	chr6:33384945-33386621	HUVEC	blood vessel:	n/a	n/a
34	JUND	chr6:33384880-33385199	HepG2	liver:	n/a	chr6:33385017-33385028
35	POLR2A	chr6:33384405-33386607	HepG2	liver:	n/a	n/a
36	MAFK	chr6:33384851-33385020	HepG2	liver:	n/a	n/a
37	POLR2A	chr6:33384990-33385264	Gliobla	brain:	n/a	n/a
38	CHD2	chr6:33384911-33385214	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr6:33384494-33386932	K562	blood:	n/a	n/a
40	POLR2A	chr6:33384158-33386545	SK-N-SH	brain:	n/a	n/a
41	EP300	chr6:33384880-33385186	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr6:33384844-33386695	H1-neurons	neurons:	n/a	n/a
43	POLR2A	chr6:33383025-33386064	GM12878	blood:	n/a	n/a
44	MAFK	chr6:33384109-33385080	IMR90	lung:	n/a	n/a
45	POLR2A	chr6:33384902-33385301	Hela-S3	cervix:	n/a	n/a
46	STAT3	chr6:33384917-33385089	MCF10A-Er-Src	breast:	n/a	n/a
47	MXI1	chr6:33384779-33385115	Hela-S3	cervix:	n/a	n/a
48	RFX5	chr6:33384889-33385090	Hela-S3	cervix:	n/a	n/a
49	MYC	chr6:33384931-33385170	MCF10A-Er-Src	breast:	n/a	n/a
50	WRNIP1	chr6:33384218-33386895	GM12878	blood:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33279489..33293095-chr6:33375317..33398824,56	K562	blood:
2	chr6:33243299..33244923-chr6:33383429..33386295,2	MCF-7	breast:
3	chr6:32938527..32941573-chr6:33384163..33387216,4	K562	blood:
4	chr6:33264410..33268847-chr6:33383674..33387403,5	MCF-7	breast:
5	chr6:33168527..33171468-chr6:33384494..33387586,3	K562	blood:
6	chr6:33169269..33171468-chr6:33384494..33387192,2	K562	blood:
7	chr6:33254516..33257651-chr6:33384634..33387572,3	K562	blood:
8	chr6:33255667..33257365-chr6:33384673..33386459,3	MCF-7	breast:
9	chr6:33264378..33268881-chr6:33383627..33388443,14	K562	blood:
10	chr6:33241747..33248128-chr6:33380775..33386072,13	K562	blood:
11	chr6:33383299..33386120-chr6:34202398..34204899,2	K562	blood:
12	chr6:33280795..33292485-chr6:33374786..33387605,31	K562	blood:
13	chr6:33356382..33361019-chr6:33384058..33388661,8	K562	blood:
14	chr6:33356706..33359588-chr6:33384249..33386179,3	MCF-7	breast:
15	chr6:33384548..33387250-chr6:33422114..33424496,2	K562	blood:
16	chr6:33237639..33241732-chr6:33383253..33390116,11	K562	blood:
17	chr6:33239271..33241277-chr6:33383669..33386403,3	MCF-7	breast:
18	chr6:33357335..33362175-chr6:33383352..33389421,14	K562	blood:
19	chr6:33242542..33249529-chr6:33381747..33388277,18	K562	blood:
20	chr6:33358575..33362850-chr6:33383674..33386989,4	MCF-7	breast:
21	chr6:33371627..33375942-chr6:33381284..33387543,6	K562	blood:
22	chr6:33237802..33241730-chr6:33382199..33389112,10	K562	blood:
23	chr6:33255047..33257514-chr6:33384371..33386134,2	K562	blood:

No data

Variant related genes	Relation type
SYNGAP1	TF binding region
ENSG00000235863	Chromatin interaction
ENSG00000263756	Chromatin interaction
ENSG00000231925	Chromatin interaction
ENSG00000137309	Chromatin interaction
ENSG00000204231	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000204209	Chromatin interaction
ENSG00000227057	Chromatin interaction
ENSG00000112473	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000236104	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000237441	Chromatin interaction
ENSG00000223501	Chromatin interaction
ENSG00000213588	Chromatin interaction
ENSG00000225644	Chromatin interaction
ENSG00000204220	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs57206692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57991968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59507163	0.83[AFR][1000 genomes]
rs6901334	1.00[AMR][1000 genomes]
rs6930593	1.00[AMR][1000 genomes]
rs73402305	0.84[AFR][1000 genomes]
rs73402312	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402320	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73402373	1.00[AMR][1000 genomes]
rs73402386	1.00[AMR][1000 genomes]
rs73416054	0.86[AFR][1000 genomes]
rs9469425	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9469439	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
2	nsv830637	chr6:33329365-33510704	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv885769	chr6:33377522-33412197	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	48 gene(s)	inside rSNPs	diseases
4	nsv602832	chr6:33382241-33520221	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv932196	chr6:33383131-33400706	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	36 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	chr6:33382200-33385400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:33383200-33385200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:33384000-33385200	Transcr. at gene 5' and 3'	K562	blood
4	chr6:33384000-33385600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr6:33384000-33386600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:33384200-33385200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
7	chr6:33384200-33385200	Flanking Active TSS	Hela-S3	cervix
8	chr6:33384200-33385600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
9	chr6:33384200-33385600	Flanking Active TSS	HMEC	breast
10	chr6:33384400-33385200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:33384400-33385200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:33384400-33385200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:33384400-33385200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
14	chr6:33384400-33385200	Flanking Active TSS	Fetal Lung	lung
15	chr6:33384400-33385200	Flanking Active TSS	HepG2	liver
16	chr6:33384400-33385400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr6:33384400-33385400	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr6:33384400-33385400	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
19	chr6:33384400-33385400	Flanking Active TSS	Fetal Brain Male	brain
20	chr6:33384400-33385400	Flanking Active TSS	HSMMtube	muscle
21	chr6:33384400-33385600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr6:33384400-33385600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:33384400-33385600	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr6:33384400-33385800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr6:33384400-33386000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr6:33384400-33386400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:33384400-33386600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:33384600-33385200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr6:33384600-33385200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:33384600-33385200	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr6:33384600-33385200	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr6:33384600-33385400	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr6:33384600-33385400	Flanking Active TSS	Brain Angular Gyrus	brain
34	chr6:33384600-33385400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:33384600-33385400	Flanking Active TSS	Brain Substantia Nigra	brain
36	chr6:33384600-33385400	Flanking Active TSS	Fetal Heart	heart
37	chr6:33384600-33385400	Flanking Active TSS	Thymus	Thymus
38	chr6:33384600-33385600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:33384600-33385600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr6:33384600-33385600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr6:33384600-33385600	Flanking Active TSS	Right Ventricle	heart
42	chr6:33384600-33385800	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr6:33384600-33385800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr6:33384600-33385800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:33384600-33385800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr6:33384600-33385800	Flanking Active TSS	Placenta	Placenta
47	chr6:33384600-33385800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr6:33384600-33385800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr6:33384600-33385800	Flanking Active TSS	HUVEC	blood vessel
50	chr6:33384600-33386200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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