Variant report

Variant	rs10895986
Chromosome Location	chr11:64902002-64902003
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:479)
CpG islands
(count:0)
Chromatin interactive
region (count:51)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:479 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF3	chr11:64901885-64902430	GM12878	blood:	n/a	n/a
2	REST	chr11:64901795-64902431	HepG2	liver:	n/a	chr11:64902089-64902102
3	POLR2A	chr11:64898630-64903647	GM12891	blood:	n/a	n/a
4	CREB1	chr11:64901711-64903020	HepG2	liver:	n/a	n/a
5	NFIC	chr11:64901830-64902995	HepG2	liver:	n/a	chr11:64902963-64902980 chr11:64902962-64902990
6	REST	chr11:64901684-64902230	PANC-1	pancreas:	n/a	chr11:64902089-64902102
7	GABPA	chr11:64901780-64902209	GM12878	blood:	n/a	n/a
8	REST	chr11:64901277-64903344	H1-neurons	neurons:	n/a	chr11:64902089-64902102 chr11:64902638-64902647
9	MXI1	chr11:64901664-64903089	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr11:64901633-64903018	ProgFib	skin:	n/a	n/a
11	POLR2A	chr11:64901392-64903365	GM12878	blood:	n/a	n/a
12	IRF1	chr11:64901847-64902914	K562	blood:	n/a	chr11:64902542-64902551 chr11:64901990-64902004
13	MAX	chr11:64901685-64903079	SK-N-SH	brain:	n/a	n/a
14	SREBP1	chr11:64900878-64903237	GM12878	blood:	n/a	chr11:64902140-64902151
15	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
16	MAX	chr11:64901575-64903080	MCF-7	breast:	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	ELF1	chr11:64901894-64902612	HepG2	liver:	n/a	n/a
20	ETS1	chr11:64901655-64902504	A549	lung:	n/a	chr11:64902008-64902017 chr11:64902006-64902019
21	POLR2A	chr11:64899360-64903246	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:64901876-64902919	HepG2	liver:	n/a	n/a
23	BHLHE40	chr11:64901747-64902902	K562	blood:	n/a	chr11:64901965-64901981 chr11:64902295-64902311
24	ETS1	chr11:64901593-64902311	K562	blood:	n/a	chr11:64902008-64902017 chr11:64902006-64902019
25	EP300	chr11:64901810-64902548	K562	blood:	n/a	chr11:64901935-64901951
26	GTF2F1	chr11:64901802-64903148	K562	blood:	n/a	n/a
27	FOXA1	chr11:64901943-64902539	ECC-1	luminal epithelium:	n/a	n/a
28	RCOR1	chr11:64901942-64902896	GM12878	blood:	n/a	n/a
29	SIN3AK20	chr11:64901752-64902172	HepG2	liver:	n/a	n/a
30	POLR2A	chr11:64901639-64903166	GM18951	blood:	n/a	n/a
31	JUND	chr11:64901752-64902846	H1-hESC	embryonic stem cell:	n/a	chr11:64901921-64901929 chr11:64902833-64902842
32	FOXM1	chr11:64901806-64903036	GM12878	blood:	n/a	n/a
33	GABPA	chr11:64901183-64903043	SK-N-SH	brain:	n/a	chr11:64901585-64901594
34	GABPA	chr11:64901621-64902591	HL-60	blood:	n/a	n/a
35	HCFC1	chr11:64901357-64903565	Hela-S3	cervix:	n/a	n/a
36	STAT5A	chr11:64901870-64903087	K562	blood:	n/a	chr11:64902156-64902168
37	ELK4	chr11:64901751-64902954	Hela-S3	cervix:	n/a	chr11:64902033-64902044
38	TBP	chr11:64901836-64902901	HepG2	liver:	n/a	n/a
39	POU2F2	chr11:64901714-64902886	GM12891	blood:	n/a	n/a
40	SIN3AK20	chr11:64901765-64902881	A549	lung:	n/a	n/a
41	YY1	chr11:64901684-64902892	K562	blood:	n/a	chr11:64901992-64902003 chr11:64902295-64902309
42	TAF1	chr11:64901655-64902895	A549	lung:	n/a	n/a
43	SIN3AK20	chr11:64901686-64902198	HepG2	liver:	n/a	n/a
44	SIN3AK20	chr11:64901322-64902835	H1-hESC	embryonic stem cell:	n/a	n/a
45	TAF1	chr11:64901757-64902933	K562	blood:	n/a	n/a
46	POLR2A	chr11:64901656-64903028	H1-neurons	neurons:	n/a	n/a
47	POLR2A	chr11:64901674-64903238	GM12891	blood:	n/a	n/a
48	POLR2A	chr11:64901730-64902951	HepG2	liver:	n/a	n/a
49	FOXA2	chr11:64901946-64902399	A549	lung:	n/a	n/a
50	ETS1	chr11:64901851-64902197	A549	lung:	n/a	chr11:64902008-64902017 chr11:64902006-64902019

No data

(count:51 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:64901992..64902582-chr2:101618659..101619332,2	Hela-S3	cervix:
2	chr11:64901980..64902550-chr16:82203349..82203968,2	Hela-S3	cervix:
3	chr11:64901611..64904567-chr11:64970669..64973165,2	MCF-7	breast:
4	chr11:64901689..64904390-chr11:64927326..64929490,2	MCF-7	breast:
5	chr11:64901860..64902369-chr20:34329725..34330454,2	Hela-S3	cervix:
6	chr11:64900564..64902605-chr11:65189487..65191072,2	MCF-7	breast:
7	chr11:64793560..64795544-chr11:64899674..64902650,3	K562	blood:
8	chr11:64900778..64902782-chr20:45941924..45944566,2	MCF-7	breast:
9	chr11:64899644..64904758-chr11:64914742..64920010,11	K562	blood:
10	chr10:76586419..76588056-chr11:64900862..64902381,2	K562	blood:
11	chr11:64900106..64905064-chr11:64945207..64950571,10	K562	blood:
12	chr11:64764510..64767104-chr11:64900807..64902355,2	MCF-7	breast:
13	chr11:64900546..64904208-chr11:64924387..64928430,3	K562	blood:
14	chr11:64900971..64903400-chr11:64973155..64976950,3	MCF-7	breast:
15	chr11:64610673..64614254-chr11:64900941..64904149,4	MCF-7	breast:
16	chr11:64642970..64646207-chr11:64900095..64903878,3	K562	blood:
17	chr11:64901939..64902616-chr16:28834091..28834594,2	Hela-S3	cervix:
18	chr11:64901510..64902224-chr19:1274696..1275649,2	Hela-S3	cervix:
19	chr11:64901698..64902502-chr17:26988635..26989269,2	Hela-S3	cervix:
20	chr11:64900428..64903035-chr15:81292510..81294627,2	MCF-7	breast:
21	chr1:16970786..16971555-chr11:64901863..64902370,2	Hela-S3	cervix:
22	chr11:64897351..64905868-chr11:64946257..64954528,24	K562	blood:
23	chr11:64901901..64902561-chrX:153626371..153627149,3	Hela-S3	cervix:
24	chr11:64901648..64902635-chr15:82338161..82338689,2	MCF-7	breast:
25	chr11:64901960..64902782-chr16:638870..639656,2	Hela-S3	cervix:
26	chr11:64901935..64902443-chr17:62502119..62502722,2	Hela-S3	cervix:
27	chr11:64901616..64902438-chr7:56131650..56132477,2	Hela-S3	cervix:
28	chr11:64900461..64902041-chr11:65032155..65033971,2	MCF-7	breast:
29	chr11:64545204..64548174-chr11:64901244..64903002,2	MCF-7	breast:
30	chr11:57435406..57436126-chr11:64901972..64902611,2	Hela-S3	cervix:
31	chr11:64901191..64904408-chr11:64910543..64914377,7	MCF-7	breast:
32	chr11:64901151..64904024-chr11:65027824..65029855,2	K562	blood:
33	chr11:64900888..64904024-chr11:65027824..65031103,3	K562	blood:
34	chr11:64901730..64902454-chr17:41276873..41277727,2	Hela-S3	cervix:
35	chr11:64877522..64908330-chr11:64931619..64960265,171	MCF-7	breast:
36	chr11:64901430..64902415-chr3:122232953..122233875,2	Hela-S3	cervix:
37	chr11:64645625..64647922-chr11:64900749..64903645,2	MCF-7	breast:
38	chr11:64900055..64903404-chr11:64975247..64978493,3	K562	blood:
39	chr11:64901495..64903969-chr11:65026515..65030932,5	MCF-7	breast:
40	chr11:64898936..64904142-chr11:64915810..64928732,16	K562	blood:
41	chr11:64899089..64905727-chr11:64934867..64942996,32	K562	blood:
42	chr11:64901585..64906315-chr11:65031461..65034896,4	K562	blood:
43	chr1:144533640..144534142-chr11:64901928..64902515,2	Hela-S3	cervix:
44	chr11:64894864..64904857-chr11:64934599..64944069,37	K562	blood:
45	chr11:64901711..64902521-chr17:7476055..7476571,2	Hela-S3	cervix:
46	chr11:64863685..64865502-chr11:64899385..64903204,3	K562	blood:
47	chr11:64683667..64685834-chr11:64900771..64903507,2	K562	blood:
48	chr11:64642626..64644470-chr11:64900095..64903022,2	K562	blood:
49	chr11:64899351..64904069-chr11:64950676..64953624,5	K562	blood:
50	chr11:64901972..64902616-chr9:131790048..131790636,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
SYVN1	TF binding region
ENSG00000270775	Chromatin interaction
ENSG00000012048	Chromatin interaction
ENSG00000014138	Chromatin interaction
ENSG00000168062	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000132581	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000109111	Chromatin interaction
ENSG00000183496	Chromatin interaction
ENSG00000110025	Chromatin interaction
ENSG00000135698	Chromatin interaction
ENSG00000114030	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000255200	Chromatin interaction
ENSG00000255058	Chromatin interaction
ENSG00000254614	Chromatin interaction
ENSG00000147403	Chromatin interaction
ENSG00000254455	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000228300	Chromatin interaction
ENSG00000071082	Chromatin interaction
ENSG00000110046	Chromatin interaction
ENSG00000168488	Chromatin interaction
ENSG00000161960	Chromatin interaction
ENSG00000131051	Chromatin interaction
ENSG00000261029	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000197562	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000156650	Chromatin interaction
ENSG00000198496	Chromatin interaction
ENSG00000258890	Chromatin interaction
ENSG00000222477	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000249251	Chromatin interaction
ENSG00000129103	Chromatin interaction
ENSG00000140406	Chromatin interaction
ENSG00000263770	Chromatin interaction
ENSG00000108654	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000204710	Chromatin interaction
ENSG00000215908	Chromatin interaction
ENSG00000223947	Chromatin interaction
ENSG00000148341	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11227131	0.96[ASN][1000 genomes]
rs11227137	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17743381	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3802936	0.81[ASN][1000 genomes]
rs3825073	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55646096	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6591177	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7124215	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7128220	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72932851	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9971546	0.81[ASN][1000 genomes]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10895986	SPDYC	cis	Whole Blood	GTEx

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	chr11:64900400-64902200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:64900400-64902400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:64900600-64902800	Active TSS	HSMMtube	muscle
5	chr11:64900800-64902800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:64900800-64903000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:64900800-64903000	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr11:64900800-64903000	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr11:64900800-64903000	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr11:64900800-64903000	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr11:64900800-64903000	Active TSS	Small Intestine	intestine
12	chr11:64900800-64903000	Active TSS	GM12878-XiMat	blood
13	chr11:64900800-64903200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr11:64900800-64903200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:64900800-64903200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:64900800-64903400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr11:64900800-64903800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:64901000-64902800	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr11:64901000-64902800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:64901000-64902800	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr11:64901000-64902800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:64901000-64902800	Active TSS	Esophagus	oesophagus
23	chr11:64901000-64902800	Active TSS	Fetal Kidney	kidney
24	chr11:64901000-64902800	Active TSS	NHDF-Ad	bronchial
25	chr11:64901000-64902800	Active TSS	NHLF	lung
26	chr11:64901000-64903000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr11:64901000-64903000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:64901000-64903000	Active TSS	Gastric	stomach
29	chr11:64901000-64903000	Active TSS	Ovary	ovary
30	chr11:64901000-64903000	Active TSS	Psoas Muscle	Psoas
31	chr11:64901000-64903000	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr11:64901000-64903200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr11:64901000-64903200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:64901200-64902600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:64901200-64902600	Active TSS	Muscle Satellite Cultured Cells	--
36	chr11:64901200-64902800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:64901200-64902800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:64901200-64902800	Active TSS	Primary B cells from peripheral blood	blood
39	chr11:64901200-64902800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:64901200-64902800	Active TSS	Brain Substantia Nigra	brain
41	chr11:64901200-64902800	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr11:64901200-64902800	Active TSS	Fetal Intestine Large	intestine
43	chr11:64901200-64902800	Active TSS	Fetal Lung	lung
44	chr11:64901200-64902800	Active TSS	Left Ventricle	heart
45	chr11:64901200-64902800	Active TSS	Lung	lung
46	chr11:64901200-64902800	Active TSS	Stomach Mucosa	stomach
47	chr11:64901200-64902800	Active TSS	Spleen	Spleen
48	chr11:64901200-64902800	Active TSS	HMEC	breast
49	chr11:64901200-64902800	Active TSS	HSMM	muscle
50	chr11:64901200-64902800	Active TSS	NH-A	brain

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