Variant report

Variant	rs1196045
Chromosome Location	chr11:64902738-64902739
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:418)
CpG islands
(count:0)
Chromatin interactive
region (count:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:418 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64898630-64903647	GM12891	blood:	n/a	n/a
2	CREB1	chr11:64901711-64903020	HepG2	liver:	n/a	n/a
3	RFX5	chr11:64902033-64902858	K562	blood:	n/a	chr11:64902541-64902550 chr11:64902622-64902637
4	NFIC	chr11:64901830-64902995	HepG2	liver:	n/a	chr11:64902963-64902980 chr11:64902962-64902990
5	CEBPZ	chr11:64902170-64902790	HepG2	liver:	n/a	n/a
6	REST	chr11:64901277-64903344	H1-neurons	neurons:	n/a	chr11:64902089-64902102 chr11:64902638-64902647
7	SP2	chr11:64902179-64902873	HepG2	liver:	n/a	chr11:64902521-64902544
8	MXI1	chr11:64901664-64903089	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr11:64901633-64903018	ProgFib	skin:	n/a	n/a
10	POLR2A	chr11:64901392-64903365	GM12878	blood:	n/a	n/a
11	IRF1	chr11:64901847-64902914	K562	blood:	n/a	chr11:64902542-64902551 chr11:64901990-64902004
12	MAX	chr11:64901685-64903079	SK-N-SH	brain:	n/a	n/a
13	SREBP1	chr11:64900878-64903237	GM12878	blood:	n/a	chr11:64902140-64902151
14	NFYA	chr11:64901895-64902945	Hela-S3	cervix:	n/a	chr11:64902540-64902553 chr11:64902541-64902551 chr11:64902539-64902553 chr11:64902541-64902551 chr11:64902542-64902554 chr11:64902538-64902553 chr11:64902538-64902553
15	MAX	chr11:64901575-64903080	MCF-7	breast:	n/a	n/a
16	TAF1	chr11:64902444-64902957	HepG2	liver:	n/a	n/a
17	CREB1	chr11:64901787-64902850	H1-hESC	embryonic stem cell:	n/a	n/a
18	EP300	chr11:64901851-64902769	GM12878	blood:	n/a	chr11:64901935-64901951
19	POLR2A	chr11:64899360-64903246	GM12878	blood:	n/a	n/a
20	POLR2A	chr11:64901876-64902919	HepG2	liver:	n/a	n/a
21	BHLHE40	chr11:64901747-64902902	K562	blood:	n/a	chr11:64901965-64901981 chr11:64902295-64902311
22	REST	chr11:64902536-64902922	HepG2	liver:	n/a	chr11:64902638-64902647
23	GTF2F1	chr11:64901802-64903148	K562	blood:	n/a	n/a
24	RCOR1	chr11:64901942-64902896	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:64901639-64903166	GM18951	blood:	n/a	n/a
26	JUND	chr11:64901752-64902846	H1-hESC	embryonic stem cell:	n/a	chr11:64901921-64901929 chr11:64902833-64902842
27	FOXM1	chr11:64901806-64903036	GM12878	blood:	n/a	n/a
28	GABPA	chr11:64901183-64903043	SK-N-SH	brain:	n/a	chr11:64901585-64901594
29	HCFC1	chr11:64901357-64903565	Hela-S3	cervix:	n/a	n/a
30	STAT5A	chr11:64901870-64903087	K562	blood:	n/a	chr11:64902156-64902168
31	ELK4	chr11:64901751-64902954	Hela-S3	cervix:	n/a	chr11:64902033-64902044
32	TBP	chr11:64901836-64902901	HepG2	liver:	n/a	n/a
33	POU2F2	chr11:64901714-64902886	GM12891	blood:	n/a	n/a
34	SIN3AK20	chr11:64901765-64902881	A549	lung:	n/a	n/a
35	YY1	chr11:64901684-64902892	K562	blood:	n/a	chr11:64901992-64902003 chr11:64902295-64902309
36	TAF1	chr11:64901655-64902895	A549	lung:	n/a	n/a
37	SIN3AK20	chr11:64901322-64902835	H1-hESC	embryonic stem cell:	n/a	n/a
38	TAF1	chr11:64901757-64902933	K562	blood:	n/a	n/a
39	MAX	chr11:64902479-64903046	K562	blood:	n/a	n/a
40	POLR2A	chr11:64901656-64903028	H1-neurons	neurons:	n/a	n/a
41	POLR2A	chr11:64901674-64903238	GM12891	blood:	n/a	n/a
42	POLR2A	chr11:64901730-64902951	HepG2	liver:	n/a	n/a
43	MAFF	chr11:64901975-64902863	K562	blood:	n/a	n/a
44	ELF1	chr11:64901788-64902814	HepG2	liver:	n/a	n/a
45	TBL1XR1	chr11:64901744-64903086	GM12878	blood:	n/a	n/a
46	POLR2A	chr11:64901423-64902949	A549	lung:	n/a	n/a
47	SMARCC2	chr11:64901944-64903050	Hela-S3	cervix:	n/a	n/a
48	GTF2F1	chr11:64901955-64902924	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr11:64901504-64903102	GM12878	blood:	n/a	n/a
50	RELA	chr11:64901820-64903094	GM12891	blood:	n/a	n/a

No data

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64902359..64902968-chr3:3168268..3169233,2	Hela-S3	cervix:
2	chr11:64901611..64904567-chr11:64970669..64973165,2	MCF-7	breast:
3	chr11:64901689..64904390-chr11:64927326..64929490,2	MCF-7	breast:
4	chr1:156630596..156631564-chr11:64902085..64902797,2	Hela-S3	cervix:
5	chr11:64900778..64902782-chr20:45941924..45944566,2	MCF-7	breast:
6	chr11:64902231..64906341-chr11:64907764..64913217,6	K562	blood:
7	chr11:64899644..64904758-chr11:64914742..64920010,11	K562	blood:
8	chr11:64902124..64902909-chr2:55843947..55844827,2	Hela-S3	cervix:
9	chr11:64902555..64904162-chr11:64937685..64940560,2	MCF-7	breast:
10	chr11:64900106..64905064-chr11:64945207..64950571,10	K562	blood:
11	chr11:64902032..64902867-chr17:33570066..33571011,2	Hela-S3	cervix:
12	chr11:64900546..64904208-chr11:64924387..64928430,3	K562	blood:
13	chr11:64900971..64903400-chr11:64973155..64976950,3	MCF-7	breast:
14	chr11:64902150..64903059-chr20:47894762..47895292,2	Hela-S3	cervix:
15	chr11:64610673..64614254-chr11:64900941..64904149,4	MCF-7	breast:
16	chr11:64902505..64903215-chr14:64971404..64972199,2	Hela-S3	cervix:
17	chr11:64642970..64646207-chr11:64900095..64903878,3	K562	blood:
18	chr11:64900428..64903035-chr15:81292510..81294627,2	MCF-7	breast:
19	chr11:64902468..64904062-chr11:64942313..64944064,2	MCF-7	breast:
20	chr11:64897351..64905868-chr11:64946257..64954528,24	K562	blood:
21	chr11:64901960..64902782-chr16:638870..639656,2	Hela-S3	cervix:
22	chr11:64545204..64548174-chr11:64901244..64903002,2	MCF-7	breast:
23	chr11:64901191..64904408-chr11:64910543..64914377,7	MCF-7	breast:
24	chr11:64901151..64904024-chr11:65027824..65029855,2	K562	blood:
25	chr11:64900888..64904024-chr11:65027824..65031103,3	K562	blood:
26	chr11:64877522..64908330-chr11:64931619..64960265,171	MCF-7	breast:
27	chr10:71892502..71893009-chr11:64902358..64902909,2	Hela-S3	cervix:
28	chr11:64645625..64647922-chr11:64900749..64903645,2	MCF-7	breast:
29	chr11:64900055..64903404-chr11:64975247..64978493,3	K562	blood:
30	chr11:64901495..64903969-chr11:65026515..65030932,5	MCF-7	breast:
31	chr11:64902242..64904997-chr11:64905693..64907711,2	K562	blood:
32	chr11:64898936..64904142-chr11:64915810..64928732,16	K562	blood:
33	chr11:64899089..64905727-chr11:64934867..64942996,32	K562	blood:
34	chr11:64901585..64906315-chr11:65031461..65034896,4	K562	blood:
35	chr11:64902177..64902757-chr2:85173363..85174005,2	Hela-S3	cervix:
36	chr11:64902297..64902950-chr4:25161857..25162584,2	Hela-S3	cervix:
37	chr11:64894864..64904857-chr11:64934599..64944069,37	K562	blood:
38	chr11:64863685..64865502-chr11:64899385..64903204,3	K562	blood:
39	chr11:64683667..64685834-chr11:64900771..64903507,2	K562	blood:
40	chr11:64642626..64644470-chr11:64900095..64903022,2	K562	blood:
41	chr11:64899351..64904069-chr11:64950676..64953624,5	K562	blood:
42	chr11:64902264..64903137-chr2:58273526..58274167,2	Hela-S3	cervix:
43	chr11:64898025..64904360-chr11:64945543..64952640,32	MCF-7	breast:
44	chr11:64902312..64903140-chr11:64949344..64950415,3	MCF-7	breast:

No data

Variant related genes	Relation type
SYVN1	TF binding region
ENSG00000249251	Chromatin interaction
ENSG00000038210	Chromatin interaction
ENSG00000042286	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000255200	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000254614	Chromatin interaction
ENSG00000263770	Chromatin interaction
ENSG00000028116	Chromatin interaction
ENSG00000254455	Chromatin interaction
ENSG00000124201	Chromatin interaction
ENSG00000204710	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000091181	Chromatin interaction
ENSG00000177410	Chromatin interaction
ENSG00000197562	Chromatin interaction
ENSG00000229953	Chromatin interaction
ENSG00000222477	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000138041	Chromatin interaction
ENSG00000109618	Chromatin interaction
ENSG00000072756	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000014138	Chromatin interaction
ENSG00000255058	Chromatin interaction
ENSG00000166750	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000110046	Chromatin interaction
ENSG00000140406	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000110047	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1152639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1195969	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1196043	0.96[CEU][hapmap];0.89[GIH][hapmap];0.95[MEX][hapmap]
rs1196044	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1206196	0.96[CEU][hapmap];0.89[GIH][hapmap];0.95[MEX][hapmap]
rs1706936	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1706937	0.96[CEU][hapmap];0.89[GIH][hapmap];0.95[MEX][hapmap]
rs2957879	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2957880	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3782093	1.00[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs1196045	C11orf2	cis	parietal	SCAN
rs1196045	SDHAF2	cis	parietal	SCAN
rs1196045	SNORD31	cis	parietal	SCAN
rs1196045	VWCE	cis	cerebellum	SCAN
rs1196045	SCGB1D4	cis	parietal	SCAN
rs1196045	FADS1	cis	parietal	SCAN
rs1196045	RAB1B	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64900200-64903600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr11:64900600-64902800	Active TSS	HSMMtube	muscle
3	chr11:64900800-64902800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:64900800-64903000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:64900800-64903000	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr11:64900800-64903000	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr11:64900800-64903000	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr11:64900800-64903000	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr11:64900800-64903000	Active TSS	Small Intestine	intestine
10	chr11:64900800-64903000	Active TSS	GM12878-XiMat	blood
11	chr11:64900800-64903200	Active TSS	H9 Cell Line	embryonic stem cell
12	chr11:64900800-64903200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:64900800-64903200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:64900800-64903400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr11:64900800-64903800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:64901000-64902800	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr11:64901000-64902800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:64901000-64902800	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr11:64901000-64902800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:64901000-64902800	Active TSS	Esophagus	oesophagus
21	chr11:64901000-64902800	Active TSS	Fetal Kidney	kidney
22	chr11:64901000-64902800	Active TSS	NHDF-Ad	bronchial
23	chr11:64901000-64902800	Active TSS	NHLF	lung
24	chr11:64901000-64903000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr11:64901000-64903000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:64901000-64903000	Active TSS	Gastric	stomach
27	chr11:64901000-64903000	Active TSS	Ovary	ovary
28	chr11:64901000-64903000	Active TSS	Psoas Muscle	Psoas
29	chr11:64901000-64903000	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr11:64901000-64903200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:64901000-64903200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:64901200-64902800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:64901200-64902800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:64901200-64902800	Active TSS	Primary B cells from peripheral blood	blood
35	chr11:64901200-64902800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:64901200-64902800	Active TSS	Brain Substantia Nigra	brain
37	chr11:64901200-64902800	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr11:64901200-64902800	Active TSS	Fetal Intestine Large	intestine
39	chr11:64901200-64902800	Active TSS	Fetal Lung	lung
40	chr11:64901200-64902800	Active TSS	Left Ventricle	heart
41	chr11:64901200-64902800	Active TSS	Lung	lung
42	chr11:64901200-64902800	Active TSS	Stomach Mucosa	stomach
43	chr11:64901200-64902800	Active TSS	Spleen	Spleen
44	chr11:64901200-64902800	Active TSS	HMEC	breast
45	chr11:64901200-64902800	Active TSS	HSMM	muscle
46	chr11:64901200-64902800	Active TSS	NH-A	brain
47	chr11:64901200-64902800	Active TSS	NHEK	skin
48	chr11:64901200-64902800	Active TSS	Osteobl	bone
49	chr11:64901200-64903000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:64901200-64903000	Active TSS	Primary T helper cells PMA-I stimulated	--

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