Variant report

Variant	rs6486300
Chromosome Location	chr11:16627545-16627546
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:93)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:93 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr11:16627484-16628171	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr11:16625894-16629722	MCF10A-Er-Src	breast:	n/a	n/a
3	PML	chr11:16626820-16627782	K562	blood:	n/a	n/a
4	POLR2A	chr11:16625734-16629709	K562	blood:	n/a	n/a
5	UBTF	chr11:16625613-16629678	K562	blood:	n/a	n/a
6	TRIM28	chr11:16627337-16628492	K562	blood:	n/a	n/a
7	FOS	chr11:16627457-16627632	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr11:16627150-16629828	IMR90	lung:	n/a	n/a
9	CTCF	chr11:16627520-16627670	GM12874	blood:	n/a	n/a
10	TCF12	chr11:16627113-16628195	A549	lung:	n/a	chr11:16627266-16627273
11	BRCA1	chr11:16627314-16628113	Hela-S3	cervix:	n/a	n/a
12	TCF7L2	chr11:16626308-16628379	Hela-S3	cervix:	n/a	chr11:16627973-16627987
13	POLR2A	chr11:16625616-16629563	K562	blood:	n/a	n/a
14	POLR2A	chr11:16625685-16628969	K562	blood:	n/a	n/a
15	POLR2A	chr11:16627191-16627577	ProgFib	skin:	n/a	n/a
16	POLR2A	chr11:16626877-16629706	SK-N-MC	brain:	n/a	n/a
17	MXI1	chr11:16624948-16630305	IMR90	lung:	n/a	chr11:16628126-16628135
18	RCOR1	chr11:16625678-16629651	K562	blood:	n/a	n/a
19	GTF2F1	chr11:16627479-16628095	K562	blood:	n/a	n/a
20	FOS	chr11:16627338-16628122	MCF10A-Er-Src	breast:	n/a	n/a
21	MAZ	chr11:16625720-16630252	IMR90	lung:	n/a	n/a
22	HEY1	chr11:16626988-16627753	K562	blood:	n/a	n/a
23	BATF	chr11:16627544-16627825	GM12878	blood:	n/a	n/a
24	GTF2F1	chr11:16627363-16628126	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr11:16627533-16628055	MCF10A-Er-Src	breast:	n/a	n/a
26	SMC3	chr11:16626999-16628493	SK-N-SH	brain:	n/a	chr11:16627925-16627939
27	CHD2	chr11:16627417-16628110	Hela-S3	cervix:	n/a	n/a
28	TCF7L2	chr11:16627271-16628273	HEK293	kidney:	n/a	chr11:16627973-16627987
29	UBTF	chr11:16625601-16629603	K562	blood:	n/a	n/a
30	SMARCC1	chr11:16626755-16628268	Hela-S3	cervix:	n/a	n/a
31	PML	chr11:16627044-16628220	K562	blood:	n/a	n/a
32	TCF12	chr11:16627187-16629583	ECC-1	luminal epithelium:	n/a	chr11:16627266-16627273
33	JUND	chr11:16625923-16628457	K562	blood:	n/a	chr11:16626782-16626791 chr11:16627217-16627226 chr11:16626825-16626835 chr11:16625929-16625943
34	CTCF	chr11:16627520-16627670	HMEC	breast:	n/a	n/a
35	POLR2A	chr11:16626985-16627747	ECC-1	luminal epithelium:	n/a	n/a
36	GATA1	chr11:16627336-16629392	PBDE	blood:	n/a	chr11:16628158-16628174
37	TCF7L2	chr11:16627470-16628195	HCT-116	colon:	n/a	chr11:16627973-16627987
38	MAFK	chr11:16627356-16628099	K562	blood:	n/a	n/a
39	GATA1	chr11:16625387-16627789	K562	blood:	n/a	chr11:16626409-16626418 chr11:16626486-16626503 chr11:16626407-16626419 chr11:16626410-16626427
40	MXI1	chr11:16625932-16630058	SK-N-SH	brain:	n/a	chr11:16628126-16628135
41	IRF1	chr11:16627216-16628334	K562	blood:	n/a	chr11:16627847-16627854
42	MAZ	chr11:16627475-16628248	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr11:16627544-16627675	Spleen_OC	spleen:	n/a	n/a
44	SIN3A	chr11:16627469-16629678	H1-hESC	embryonic stem cell:	n/a	n/a
45	KAP1	chr11:16626527-16628472	HEK293	kidney:	n/a	n/a
46	CTCF	chr11:16627375-16628398	A549	lung:	n/a	chr11:16627918-16627939 chr11:16627923-16627941
47	EP300	chr11:16627348-16628115	GM12878	blood:	n/a	n/a
48	SMARCB1	chr11:16626127-16628149	Hela-S3	cervix:	n/a	n/a
49	HEY1	chr11:16625787-16627783	K562	blood:	n/a	chr11:16626874-16626889 chr11:16626726-16626741
50	KAP1	chr11:16627213-16628395	U2OS	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:16627534-16627584	H1-hESC	embryonic stem cell:	embryo
2	chr11:16627534-16627584	PrEC	prostate:	n/a
3	chr11:16627534-16627584	GM19239	blood:	n/a
4	chr11:16627534-16627584	AG10803	skin:	n/a
5	chr11:16627534-16627584	SK-N-SH_RA	brain:	n/a
6	chr11:16627534-16627584	BE2_C	brain:	n/a
7	chr11:16627534-16627584	HUVEC	blood vessel:	n/a
8	chr11:16627534-16627584	AG09309	skin:	n/a
9	chr11:16627534-16627584	HRCEpiC	kidney:	n/a
10	chr11:16627534-16627584	U87	brain:	n/a
11	chr11:16627534-16627584	Hepatocyte	liver:	n/a
12	chr11:16627534-16627584	BJ	skin:	n/a
13	chr11:16627534-16627584	SK-N-SH	brain:	n/a
14	chr11:16627534-16627584	MCF10A-Er-Src	breast:	n/a
15	chr11:16627534-16627584	Hela-S3	cervix:	n/a
16	chr11:16627534-16627584	HCF	heart:	n/a
17	chr11:16627534-16627584	HCPEpiC	choroid plexus:	n/a
18	chr11:16627534-16627584	SKMC	muscle:	n/a
19	chr11:16627534-16627584	ECC-1	luminal epithelium:	n/a
20	chr11:16627534-16627584	MCF-7	breast:	n/a
21	chr11:16627534-16627584	NB4	blood:	n/a
22	chr11:16627534-16627584	HEEpiC	esophagus:	n/a
23	chr11:16627534-16627584	IMR90	lung:	fetal
24	chr11:16627534-16627584	PANC-1	pancreas:	n/a
25	chr11:16627534-16627584	ovcar-3	ovarian:	n/a
26	chr11:16627534-16627584	HL-60	blood:	n/a
27	chr11:16627534-16627584	HCM	heart:	n/a
28	chr11:16627534-16627584	HAEpiC	amniotic membrane:	n/a
29	chr11:16627534-16627584	RPTEC	kidney:	n/a
30	chr11:16627534-16627584	CMK	blood:	n/a
31	chr11:16627534-16627584	AoSMC	blood vessel:	n/a
32	chr11:16627534-16627584	NT2-D1	testis:	n/a
33	chr11:16627534-16627584	HRPEpiC	eye:	n/a
34	chr11:16627534-16627584	Jurkat	blood:	n/a
35	chr11:16627534-16627584	HMEC	breast:	n/a
36	chr11:16627534-16627584	A549	lung:	n/a
37	chr11:16627534-16627584	K562	blood:	n/a
38	chr11:16627534-16627584	LNCaP	prostate:	n/a
39	chr11:16627534-16627584	HNPCEpiC	eye:	n/a
40	chr11:16627534-16627584	HepG2	liver:	n/a
41	chr11:16627534-16627584	GM12891	blood:	n/a
42	chr11:16627534-16627584	GM12878	blood:	n/a
43	chr11:16627534-16627584	ProgFib	skin:	n/a
44	chr11:16627534-16627584	HRE	kidney:	n/a
45	chr11:16627534-16627584	GM12892	blood:	n/a
46	chr11:16627534-16627584	NHBE	bronchial:	n/a
47	chr11:16627534-16627584	AG04449	skin:	fetal
48	chr11:16627534-16627584	NHDF-neo	bronchial:	n/a
49	chr11:16627534-16627584	SAEC	small airway:	n/a
50	chr11:16627534-16627584	HIPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:16402440..16404530-chr11:16626484..16629109,2	K562	blood:
2	chr11:16273658..16274622-chr11:16627404..16628365,5	MCF-7	breast:
3	chr11:16402440..16405189-chr11:16626177..16627984,2	K562	blood:
4	chr11:16212721..16213531-chr11:16627544..16628402,2	K562	blood:
5	chr11:16035545..16037231-chr11:16626707..16629465,2	K562	blood:

No data

Variant related genes	Relation type
SOX6	TF binding region
SOX6	CpG island
ENSG00000110693	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10741703	0.83[AFR][1000 genomes]
rs10766329	0.89[EUR][1000 genomes]
rs10766331	0.90[EUR][1000 genomes]
rs10766337	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10832613	1.00[CEU][hapmap]
rs10832614	1.00[CEU][hapmap]
rs10832622	0.87[EUR][1000 genomes]
rs10832627	0.89[EUR][1000 genomes]
rs10832628	0.89[EUR][1000 genomes]
rs10832629	0.90[EUR][1000 genomes]
rs10832635	0.90[EUR][1000 genomes]
rs10832637	0.90[EUR][1000 genomes]
rs10832639	0.90[EUR][1000 genomes]
rs10832640	0.90[EUR][1000 genomes]
rs10832642	0.92[EUR][1000 genomes]
rs10832643	0.92[EUR][1000 genomes]
rs10832647	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10832648	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832668	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10832671	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10832672	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10832674	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11023948	0.93[CEU][hapmap]
rs11023962	0.87[EUR][1000 genomes]
rs11023981	0.90[EUR][1000 genomes]
rs11023988	0.95[EUR][1000 genomes]
rs11024012	0.85[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11024033	0.80[AMR][1000 genomes]
rs11529132	0.89[EUR][1000 genomes]
rs11529582	0.87[EUR][1000 genomes]
rs12270317	0.90[EUR][1000 genomes]
rs12271656	0.89[EUR][1000 genomes]
rs12276256	0.89[EUR][1000 genomes]
rs12283896	0.94[EUR][1000 genomes]
rs12289091	0.99[EUR][1000 genomes]
rs12289093	0.95[EUR][1000 genomes]
rs12289098	0.85[EUR][1000 genomes]
rs12293115	1.00[CEU][hapmap]
rs12295506	0.85[EUR][1000 genomes]
rs12574185	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12575840	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12576360	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12794400	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12806064	0.86[EUR][1000 genomes]
rs34840028	0.95[EUR][1000 genomes]
rs35223308	0.89[EUR][1000 genomes]
rs36002981	0.80[EUR][1000 genomes]
rs4492775	0.87[EUR][1000 genomes]
rs4511252	0.93[EUR][1000 genomes]
rs4525190	0.90[EUR][1000 genomes]
rs4536174	0.88[EUR][1000 genomes]
rs4603269	0.95[EUR][1000 genomes]
rs56965201	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57248274	0.89[EUR][1000 genomes]
rs60439454	0.89[EUR][1000 genomes]
rs6486296	0.98[EUR][1000 genomes]
rs6486298	0.99[EUR][1000 genomes]
rs7103094	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7109995	0.80[AMR][1000 genomes]
rs7111016	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7115099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116121	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7117636	0.89[EUR][1000 genomes]
rs7118181	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7118874	1.00[CEU][hapmap]
rs7126577	0.87[EUR][1000 genomes]
rs7127280	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7129286	0.90[EUR][1000 genomes]
rs7924787	0.90[EUR][1000 genomes]
rs7927904	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7928885	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7935041	0.99[EUR][1000 genomes]
rs7937139	0.90[EUR][1000 genomes]
rs7942856	0.93[EUR][1000 genomes]
rs7943712	0.88[EUR][1000 genomes]
rs7945295	0.92[EUR][1000 genomes]
rs7945898	0.87[EUR][1000 genomes]
rs7951676	1.00[YRI][hapmap];0.80[AMR][1000 genomes]
rs9988855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv553566	chr11:16329009-16799044	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv897016	chr11:16455794-16691743	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16624800-16629600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr11:16624800-16630200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr11:16625000-16629800	Active TSS	Psoas Muscle	Psoas
4	chr11:16625000-16630000	Active TSS	Right Ventricle	heart
5	chr11:16625200-16628000	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr11:16625200-16629000	Active TSS	Esophagus	oesophagus
7	chr11:16625200-16630000	Active TSS	Left Ventricle	heart
8	chr11:16625200-16630000	Active TSS	Right Atrium	heart
9	chr11:16625400-16628000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr11:16625400-16629400	Active TSS	Fetal Lung	lung
11	chr11:16625400-16629600	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr11:16625400-16629800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
13	chr11:16625400-16629800	Bivalent/Poised TSS	Brain Substantia Nigra	brain
14	chr11:16625600-16627600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:16625600-16627800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:16625600-16629600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:16625600-16629800	Active TSS	Aorta	Aorta
18	chr11:16625600-16629800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:16625600-16629800	Bivalent/Poised TSS	HSMM	muscle
20	chr11:16625600-16630000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:16625600-16630000	Active TSS	Fetal Heart	heart
22	chr11:16625800-16627600	Active TSS	Lung	lung
23	chr11:16625800-16627800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
24	chr11:16625800-16628000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr11:16625800-16628000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:16625800-16628000	Active TSS	K562	blood
27	chr11:16625800-16629200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr11:16625800-16629200	Active TSS	Pancreas	Pancrea
29	chr11:16625800-16629400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:16625800-16629600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr11:16625800-16629800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr11:16625800-16629800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:16625800-16630000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:16625800-16630000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr11:16625800-16630000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
36	chr11:16625800-16630200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:16625800-16630600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:16626000-16627800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
39	chr11:16626000-16627800	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
40	chr11:16626000-16628600	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
41	chr11:16626000-16628800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:16626000-16629200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
43	chr11:16626000-16629400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:16626000-16629400	Bivalent/Poised TSS	Thymus	Thymus
45	chr11:16626000-16629600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:16626000-16629600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:16626000-16629600	Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr11:16626000-16629600	Active TSS	NHLF	lung
49	chr11:16626000-16630000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:16626200-16627600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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