Variant report

Variant	rs61889846
Chromosome Location	chr11:10319323-10319324
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	GATA2	chr11:10319276-10319586	HUVEC	blood vessel:	n/a	chr11:10319573-10319583 chr11:10319423-10319440
2	EP300	chr11:10319315-10319553	K562	blood:	n/a	n/a
3	POLR2A	chr11:10319293-10319607	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr11:10319304-10319579	K562	blood:	n/a	n/a
5	RUNX3	chr11:10319295-10319731	GM12878	blood:	n/a	n/a
6	NR2F2	chr11:10319257-10319626	K562	blood:	n/a	n/a
7	EP300	chr11:10319018-10319782	SK-N-SH	brain:	n/a	chr11:10319628-10319642
8	RUNX3	chr11:10319310-10319725	GM12878	blood:	n/a	n/a
9	KAP1	chr11:10319306-10319623	U2OS	brain:	n/a	n/a
10	GATA1	chr11:10319028-10319649	K562	blood:	n/a	chr11:10319573-10319583 chr11:10319423-10319440
11	STAT5A	chr11:10319185-10319661	K562	blood:	n/a	n/a
12	TAL1	chr11:10319242-10319610	K562	blood:	n/a	n/a
13	GATA2	chr11:10319289-10319628	SH-SY5Y	brain:	n/a	chr11:10319573-10319583 chr11:10319423-10319440
14	POLR2A	chr11:10319266-10319703	HL-60	blood:	n/a	n/a
15	RCOR1	chr11:10319245-10320201	K562	blood:	n/a	n/a
16	ZMIZ1	chr11:10319279-10319582	K562	blood:	n/a	n/a
17	ATF1	chr11:10319294-10319525	K562	blood:	n/a	n/a
18	POLR2A	chr11:10319177-10320558	PANC-1	pancreas:	n/a	n/a
19	HDAC2	chr11:10319302-10319608	K562	blood:	n/a	chr11:10319578-10319592
20	TEAD4	chr11:10319195-10319690	K562	blood:	n/a	n/a
21	RCOR1	chr11:10319257-10319666	K562	blood:	n/a	n/a
22	TEAD4	chr11:10319236-10319689	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10315206..10317508-chr11:10317757..10321006,5	K562	blood:
2	chr11:10315206..10317508-chr11:10317757..10320050,3	K562	blood:

Variant related genes	Relation type
SBF2	TF binding region
ENSG00000133812	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs1372810	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450265	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450266	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450268	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450275	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450276	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470686	0.87[EUR][1000 genomes]
rs16907654	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17292774	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17294609	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17294693	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17295786	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17296211	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17296765	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17358721	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17358882	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17359382	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17360118	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2044781	0.81[EUR][1000 genomes]
rs28733206	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2920149	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2957657	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2957686	0.86[EUR][1000 genomes]
rs4077089	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4403799	0.89[EUR][1000 genomes]
rs61877263	0.83[EUR][1000 genomes]
rs61877264	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61878635	0.82[EUR][1000 genomes]
rs61878652	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61878654	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61878655	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61878657	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61878658	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61878659	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61880160	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889783	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889785	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889795	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889796	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889802	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889815	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889816	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889817	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889836	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889840	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889842	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889956	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61889957	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891762	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891764	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891767	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891768	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891770	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891771	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61891773	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891775	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61891776	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891793	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892569	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892570	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892572	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892573	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892575	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892593	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892594	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892595	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892596	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892597	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6484142	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7103637	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104591	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105355	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7107373	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7108385	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109096	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111544	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111647	0.91[AMR][1000 genomes];0.87[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];0.81[EUR][1000 genomes]
rs7123541	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7125823	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129220	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131546	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72850458	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851670	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72851674	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72861738	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72861762	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72861767	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72861799	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7929332	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930218	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7933724	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7935257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939531	1.00[ASN][1000 genomes]
rs7941320	0.81[EUR][1000 genomes]
rs7941557	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7945990	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7947210	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs896043	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9705133	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[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	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

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10316600-10319400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:10316600-10320200	Weak transcription	HSMMtube	muscle
3	chr11:10316600-10322000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:10316600-10323800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:10316600-10323800	Weak transcription	Left Ventricle	heart
6	chr11:10316600-10323800	Weak transcription	Ovary	ovary
7	chr11:10316600-10323800	Weak transcription	Right Ventricle	heart
8	chr11:10316600-10324000	Weak transcription	Lung	lung
9	chr11:10316800-10320000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:10316800-10322600	Weak transcription	Fetal Kidney	kidney
11	chr11:10316800-10323200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr11:10317000-10319400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:10317000-10319800	Weak transcription	Osteobl	bone
14	chr11:10317000-10320000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:10317000-10320400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:10317000-10323200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:10317000-10323400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:10317000-10323600	Weak transcription	Adipose Nuclei	Adipose
19	chr11:10317000-10323600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr11:10317000-10323800	Weak transcription	Colonic Mucosa	Colon
21	chr11:10317000-10323800	Weak transcription	Placenta	Placenta
22	chr11:10317000-10323800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:10317200-10319400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:10317200-10319400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr11:10317200-10319400	Weak transcription	HMEC	breast
26	chr11:10317200-10320200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr11:10317200-10321000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:10317200-10322400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr11:10317200-10323000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr11:10317200-10323800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr11:10317200-10323800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr11:10317400-10319400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr11:10317400-10320000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:10317400-10320400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:10317400-10322200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr11:10317400-10322600	Weak transcription	HepG2	liver
37	chr11:10317400-10323200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:10317400-10323600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr11:10317600-10319400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:10317600-10319400	Weak transcription	NHLF	lung
41	chr11:10317600-10320000	Weak transcription	A549	lung
42	chr11:10317600-10321200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr11:10317600-10322200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr11:10317600-10322600	Weak transcription	Hela-S3	cervix
45	chr11:10317600-10322800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr11:10317600-10322800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr11:10317600-10323400	Weak transcription	Fetal Intestine Small	intestine
48	chr11:10317800-10321000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr11:10317800-10323200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr11:10317800-10323400	Weak transcription	Monocytes-CD14+_RO01746	blood

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