Variant report

Variant	rs9261283
Chromosome Location	chr6:30035485-30035486
allele	A/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	MXI1	chr6:30034461-30035629	K562	blood:	n/a	n/a
2	ELF1	chr6:30034208-30035616	HCT-116	colon:	n/a	chr6:30034979-30034990 chr6:30034979-30034990 chr6:30034994-30035003 chr6:30034551-30034562 chr6:30034981-30034990 chr6:30034993-30035004 chr6:30034980-30034989
3	MXI1	chr6:30033682-30035697	IMR90	lung:	n/a	n/a
4	ELF1	chr6:30034296-30035542	K562	blood:	n/a	chr6:30034979-30034990 chr6:30034979-30034990 chr6:30034994-30035003 chr6:30034551-30034562 chr6:30034981-30034990 chr6:30034993-30035004 chr6:30034980-30034989
5	REST	chr6:30033943-30035861	H1-neurons	neurons:	n/a	chr6:30034818-30034831
6	POLR2A	chr6:30033888-30035534	HepG2	liver:	n/a	n/a
7	POLR2A	chr6:30034084-30035489	PFSK-1	brain:	n/a	n/a
8	MAZ	chr6:30034011-30035602	IMR90	lung:	n/a	chr6:30035150-30035160
9	HCFC1	chr6:30033948-30035853	Hela-S3	cervix:	n/a	n/a
10	SIN3A	chr6:30034254-30035488	GM12878	blood:	n/a	chr6:30034873-30034882
11	CBX3	chr6:30034219-30035587	K562	blood:	n/a	n/a
12	GABPA	chr6:30034318-30035499	HL-60	blood:	n/a	chr6:30034876-30034885 chr6:30034874-30034885 chr6:30034871-30034885 chr6:30034874-30034888
13	POLR2A	chr6:30033996-30035547	HUVEC	blood vessel:	n/a	n/a
14	CREB1	chr6:30034226-30035568	K562	blood:	n/a	n/a
15	BHLHE40	chr6:30034290-30035511	K562	blood:	n/a	n/a
16	EGR1	chr6:30034335-30035537	HCT-116	colon:	n/a	chr6:30034709-30034722 chr6:30034995-30035004 chr6:30035265-30035275 chr6:30034875-30034884 chr6:30034817-30034831 chr6:30035265-30035278 chr6:30035264-30035279
17	JUN	chr6:30033661-30035734	K562	blood:	n/a	chr6:30035268-30035277 chr6:30035265-30035274
18	POLR2A	chr6:30034201-30035489	HL-60	blood:	n/a	n/a
19	CEBPB	chr6:30034195-30035540	GM12878	blood:	n/a	n/a
20	MTA3	chr6:30034176-30035586	GM12878	blood:	n/a	n/a
21	POLR2A	chr6:30034235-30035508	HCT-116	colon:	n/a	n/a
22	CREB1	chr6:30034208-30035536	HepG2	liver:	n/a	n/a
23	ELK4	chr6:30034370-30035487	Hela-S3	cervix:	n/a	chr6:30034995-30035004
24	POLR2A	chr6:30033738-30035539	K562	blood:	n/a	n/a
25	ELF1	chr6:30034180-30035695	HCT-116	colon:	n/a	chr6:30034979-30034990 chr6:30034979-30034990 chr6:30034994-30035003 chr6:30034551-30034562 chr6:30034981-30034990 chr6:30034993-30035004 chr6:30034980-30034989
26	EP300	chr6:30034727-30035581	HepG2	liver:	n/a	chr6:30034860-30034874 chr6:30034996-30035003
27	MAX	chr6:30034166-30035565	HepG2	liver:	n/a	chr6:30035150-30035160
28	NRF1	chr6:30034290-30035490	SK-N-SH	brain:	n/a	chr6:30034874-30034885 chr6:30034876-30034885 chr6:30034874-30034885 chr6:30034871-30034885 chr6:30034874-30034888
29	ELK1	chr6:30034230-30035539	K562	blood:	n/a	chr6:30034995-30035004 chr6:30034995-30035004
30	CREB1	chr6:30034466-30035486	H1-hESC	embryonic stem cell:	n/a	n/a
31	MXI1	chr6:30033710-30035798	SK-N-SH	brain:	n/a	n/a
32	NFIC	chr6:30034055-30035708	GM12878	blood:	n/a	n/a
33	POLR2A	chr6:30034150-30035497	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr6:30033786-30035526	PANC-1	pancreas:	n/a	n/a
35	RCOR1	chr6:30034528-30035522	HepG2	liver:	n/a	n/a
36	POLR2A	chr6:30034207-30035546	H1-neurons	neurons:	n/a	n/a
37	CUX1	chr6:30035291-30035796	K562	blood:	n/a	n/a
38	NR2F2	chr6:30034241-30035574	K562	blood:	n/a	n/a
39	GABPA	chr6:30034108-30035677	MCF-7	breast:	n/a	chr6:30034876-30034885 chr6:30034874-30034885 chr6:30034871-30034885 chr6:30034874-30034888
40	SIN3AK20	chr6:30034123-30035524	MCF-7	breast:	n/a	n/a
41	ELF1	chr6:30034309-30035508	MCF-7	breast:	n/a	chr6:30034979-30034990 chr6:30034979-30034990 chr6:30034994-30035003 chr6:30034551-30034562 chr6:30034981-30034990 chr6:30034993-30035004 chr6:30034980-30034989
42	POLR2A	chr6:30034315-30035580	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr6:30034169-30035613	Hela-S3	cervix:	n/a	n/a
44	MTA3	chr6:30033892-30035666	GM12878	blood:	n/a	n/a
45	UBTF	chr6:30034268-30035490	K562	blood:	n/a	n/a
46	POLR2A	chr6:30034167-30035633	H1-neurons	neurons:	n/a	n/a
47	GABPA	chr6:30034252-30035585	SK-N-SH	brain:	n/a	chr6:30034876-30034885 chr6:30034874-30034885 chr6:30034871-30034885 chr6:30034874-30034888
48	STAT5A	chr6:30034002-30035516	GM12878	blood:	n/a	chr6:30034858-30034869
49	TEAD4	chr6:30034083-30035612	K562	blood:	n/a	n/a
50	POLR2A	chr6:30033807-30035564	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:23568218..23568719-chr6:30034866..30035541,2	Hela-S3	cervix:
2	chr3:170587575..170588230-chr6:30034888..30035491,2	Hela-S3	cervix:
3	chr6:30033618..30036318-chr6:30097659..30102068,3	MCF-7	breast:

Variant related genes	Relation type
PPP1R11	TF binding region
ENSG00000103353	Chromatin interaction
ENSG00000252228	Chromatin interaction
ENSG00000103356	Chromatin interaction
ENSG00000163584	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs12210298	1.00[ASN][1000 genomes]
rs28400886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9260673	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs9260679	0.97[EUR][1000 genomes]
rs9260705	0.97[EUR][1000 genomes]
rs9260770	0.97[EUR][1000 genomes]
rs9260802	1.00[EUR][1000 genomes]
rs9260811	1.00[EUR][1000 genomes]
rs9260888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9260924	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9260927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9260928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9260985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261267	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9261380	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031115	chr6:29934199-30058223	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv538172	chr6:29934199-30058223	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv432866	chr6:30026321-30080921	Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 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	chr6:30033600-30035800	Active TSS	A549	lung
2	chr6:30033800-30035600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr6:30033800-30035600	Active TSS	H1 Cell Line	embryonic stem cell
4	chr6:30033800-30035600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr6:30033800-30035800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr6:30033800-30035800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:30034000-30035600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:30034000-30035600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:30034000-30035600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:30034000-30035600	Active TSS	Aorta	Aorta
11	chr6:30034000-30035600	Active TSS	Fetal Muscle Trunk	muscle
12	chr6:30034000-30035600	Active TSS	Sigmoid Colon	Sigmoid Colon
13	chr6:30034000-30035600	Active TSS	Small Intestine	intestine
14	chr6:30034000-30035800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:30034000-30035800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr6:30034000-30035800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:30034000-30035800	Active TSS	Colonic Mucosa	Colon
18	chr6:30034000-30035800	Active TSS	Thymus	Thymus
19	chr6:30034000-30035800	Active TSS	HSMM	muscle
20	chr6:30034000-30036000	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr6:30034000-30036000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:30034200-30035600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr6:30034200-30035600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr6:30034200-30035600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:30034200-30035600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:30034200-30035600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr6:30034200-30035600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:30034200-30035600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr6:30034200-30035600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:30034200-30035600	Active TSS	Brain Anterior Caudate	brain
31	chr6:30034200-30035600	Active TSS	Esophagus	oesophagus
32	chr6:30034200-30035600	Active TSS	Left Ventricle	heart
33	chr6:30034200-30035600	Active TSS	Lung	lung
34	chr6:30034200-30035600	Active TSS	Ovary	ovary
35	chr6:30034200-30035600	Active TSS	Placenta Amnion	Placenta Amnion
36	chr6:30034200-30035600	Active TSS	Stomach Mucosa	stomach
37	chr6:30034200-30035600	Active TSS	HSMMtube	muscle
38	chr6:30034200-30035800	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr6:30034200-30035800	Active TSS	Fetal Brain Male	brain
40	chr6:30034200-30035800	Active TSS	Psoas Muscle	Psoas
41	chr6:30034200-30035800	Active TSS	NHDF-Ad	bronchial
42	chr6:30034200-30036000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:30034200-30036000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:30034200-30036000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:30034200-30036000	Active TSS	GM12878-XiMat	blood
46	chr6:30034400-30035600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:30034400-30035600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
48	chr6:30034400-30035600	Active TSS	Muscle Satellite Cultured Cells	--
49	chr6:30034400-30035600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr6:30034400-30035600	Active TSS	Fetal Intestine Small	intestine

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