Variant report

Variant	rs61889843
Chromosome Location	chr11:10316716-10316717
allele	C/T
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	POLR2A	chr11:10314776-10316952	Hela-S3	cervix:	n/a	n/a
2	BCL3	chr11:10315845-10316722	A549	lung:	n/a	chr11:10316696-10316705 chr11:10316320-10316329
3	CEBPB	chr11:10315915-10316828	A549	lung:	n/a	n/a
4	TCF7L2	chr11:10315884-10316729	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr11:10314166-10319019	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr11:10314487-10317395	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr11:10314922-10317028	Hela-S3	cervix:	n/a	n/a
8	RFX5	chr11:10314255-10316867	SK-N-SH	brain:	n/a	n/a
9	E2F6	chr11:10315794-10316765	H1-hESC	embryonic stem cell:	n/a	chr11:10315795-10315807 chr11:10316131-10316143 chr11:10315908-10315920 chr11:10315798-10315807 chr11:10315907-10315918
10	POLR2A	chr11:10314637-10316853	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr11:10314752-10316791	PFSK-1	brain:	n/a	n/a
12	MAFK	chr11:10316650-10317170	IMR90	lung:	n/a	n/a
13	MAX	chr11:10314703-10316760	HCT-116	colon:	n/a	chr11:10315799-10315809 chr11:10315915-10315924 chr11:10315383-10315392
14	KAP1	chr11:10315993-10317214	HEK293	kidney:	n/a	chr11:10316026-10316034
15	POLR2A	chr11:10314769-10316770	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr11:10314449-10317131	IMR90	lung:	n/a	n/a
17	TCF12	chr11:10314700-10316772	A549	lung:	n/a	chr11:10314912-10314919
18	SMARCC1	chr11:10314936-10316808	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr11:10314888-10316787	MCF10A-Er-Src	breast:	n/a	n/a
20	MAZ	chr11:10315008-10316842	HepG2	liver:	n/a	chr11:10315799-10315809 chr11:10315915-10315924 chr11:10315383-10315392
21	CHD1	chr11:10315871-10316765	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr11:10314767-10316812	A549	lung:	n/a	chr11:10315799-10315809 chr11:10315915-10315924 chr11:10315383-10315392
23	MAX	chr11:10314780-10316772	A549	lung:	n/a	chr11:10315799-10315809 chr11:10315915-10315924 chr11:10315383-10315392
24	POLR2A	chr11:10315596-10316729	U87	brain:	n/a	n/a
25	MAX	chr11:10315665-10316990	NB4	blood:	n/a	chr11:10315799-10315809 chr11:10315915-10315924
26	POLR2A	chr11:10315590-10316735	U87	brain:	n/a	n/a
27	KAP1	chr11:10316060-10316992	U2OS	brain:	n/a	n/a
28	SETDB1	chr11:10316518-10316825	U2OS	brain:	n/a	n/a
29	POLR2A	chr11:10314824-10317123	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:10314422..10317147-chr11:10327890..10331590,5	MCF-7	breast:
2	chr11:10314668..10317041-chr11:10325018..10327085,3	K562	blood:
3	chr11:10316317..10316870-chr19:16438000..16438938,2	Hela-S3	cervix:

Variant related genes	Relation type
SBF2	TF binding region
ENSG00000148926	Chromatin interaction
ENSG00000254554	Chromatin interaction
ENSG00000133805	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs1372810	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450265	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450266	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450268	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450275	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450276	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470686	0.88[EUR][1000 genomes]
rs1597450	0.80[EUR][1000 genomes]
rs16907654	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17292774	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17294609	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17294693	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17295786	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17296211	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17296765	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17358721	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17358882	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17359382	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17360118	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2044781	0.82[EUR][1000 genomes]
rs28733206	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2920149	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2957657	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2957686	0.87[EUR][1000 genomes]
rs4077089	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4403799	0.90[EUR][1000 genomes]
rs61877263	0.82[EUR][1000 genomes]
rs61877264	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61878635	0.81[EUR][1000 genomes]
rs61878652	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61878654	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61878655	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61878657	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61878658	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61878659	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61880160	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889783	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889785	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889795	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889796	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889802	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889815	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889816	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889817	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889836	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889840	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889842	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889956	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61889957	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891762	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891764	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891767	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891768	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891770	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891771	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61891773	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891775	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61891776	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891793	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892569	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892570	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892572	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892573	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892575	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892593	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892594	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892595	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892596	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892597	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6484142	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7103637	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104591	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105355	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7107373	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7108385	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109096	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111544	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111647	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7120043	1.00[ASN][1000 genomes]
rs7122370	1.00[ASN][1000 genomes]
rs7123467	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7123541	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7125823	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129220	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131546	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72850458	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851670	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851674	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72861738	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72861762	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72861767	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72861799	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7929332	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930218	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7933724	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7935257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939531	1.00[ASN][1000 genomes]
rs7941320	0.82[EUR][1000 genomes]
rs7941557	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7945990	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947210	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs896043	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9705133	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[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	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	esv3437706	chr11:10313476-10317774	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10314200-10317000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr11:10314400-10316800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr11:10314400-10316800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr11:10314400-10316800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:10314400-10316800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:10314400-10316800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:10314400-10317400	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr11:10314800-10316800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:10314800-10316800	Active TSS	Colon Smooth Muscle	Colon
10	chr11:10314800-10316800	Active TSS	Fetal Kidney	kidney
11	chr11:10314800-10317200	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr11:10315000-10316800	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr11:10315000-10316800	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr11:10315000-10317000	Active TSS	Brain Hippocampus Middle	brain
15	chr11:10315000-10317000	Active TSS	Rectal Smooth Muscle	rectum
16	chr11:10315200-10316800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:10315800-10317000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr11:10315800-10317000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:10315800-10317200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr11:10315800-10317200	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr11:10315800-10317200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:10316000-10316800	Flanking Active TSS	Colonic Mucosa	Colon
23	chr11:10316000-10317000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
24	chr11:10316000-10317000	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr11:10316000-10317000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr11:10316000-10317000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr11:10316000-10317000	Flanking Active TSS	HMEC	breast
28	chr11:10316000-10317200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr11:10316000-10317200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:10316000-10317200	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr11:10316000-10317400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:10316000-10317600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr11:10316200-10316800	Flanking Active TSS	NHEK	skin
34	chr11:10316200-10317000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:10316200-10317000	Flanking Bivalent TSS/Enh	Thymus	Thymus
36	chr11:10316400-10316800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr11:10316400-10316800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:10316400-10316800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:10316400-10316800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:10316400-10316800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:10316400-10316800	Flanking Active TSS	Liver	Liver
42	chr11:10316400-10316800	Enhancers	Fetal Heart	heart
43	chr11:10316400-10316800	Flanking Active TSS	Fetal Intestine Large	intestine
44	chr11:10316400-10316800	Flanking Active TSS	Fetal Intestine Small	intestine
45	chr11:10316400-10316800	Flanking Active TSS	Osteobl	bone
46	chr11:10316400-10317000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr11:10316400-10317000	Flanking Active TSS	NHDF-Ad	bronchial
48	chr11:10316400-10317200	Flanking Active TSS	A549	lung
49	chr11:10316400-10317200	Bivalent Enhancer	GM12878-XiMat	blood
50	chr11:10316400-10317200	Flanking Active TSS	Hela-S3	cervix

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