Variant report

Variant	rs73539529
Chromosome Location	chr11:71815596-71815597
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:71815399-71815804	GM12891	blood:	n/a	n/a
2	POLR2A	chr11:71813300-71815763	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:71815560-71815624	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr11:71815418-71815902	GM12892	blood:	n/a	n/a
5	POLR2A	chr11:71812096-71815828	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:71812027-71815714	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:71749829..71754834-chr11:71810770..71817366,12	MCF-7	breast:
2	chr11:71751619..71754177-chr11:71813642..71816501,2	K562	blood:
3	chr11:71747688..71754289-chr11:71810930..71816696,13	MCF-7	breast:
4	chr11:71812576..71816251-chr11:71934138..71937267,4	MCF-7	breast:
5	chr11:71747646..71754177-chr11:71811554..71816654,6	K562	blood:
6	chr11:71813081..71815809-chr11:72144185..72147079,2	K562	blood:
7	chr11:71812032..71815862-chr11:71933743..71937376,6	MCF-7	breast:

No data

Variant related genes	Relation type
LAMTOR1	TF binding region
LRTOMT	TF binding region
ENSG00000137497	Chromatin interaction
ENSG00000165458	Chromatin interaction
ENSG00000162129	Chromatin interaction

Extended variants
information (count: 127 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs10128658	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10736786	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10751190	0.85[EUR][1000 genomes]
rs10751193	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10793016	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10898814	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10898817	0.81[ASN][1000 genomes]
rs11235440	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12272213	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12283462	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12293885	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1541306	0.83[EUR][1000 genomes]
rs1573500	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1573502	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17161966	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17161980	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17161991	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1791544	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1806778	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1892919	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1892921	0.85[EUR][1000 genomes]
rs1894003	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1939242	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1939243	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1939245	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1939247	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2250866	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2298456	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2511074	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511075	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2511076	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2511078	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511079	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511114	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511116	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2511121	0.85[ASN][1000 genomes]
rs2511122	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2845857	0.90[EUR][1000 genomes]
rs28504107	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3018301	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3018304	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3018308	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3133230	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3133233	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3750908	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3793938	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3814721	0.85[EUR][1000 genomes]
rs3886589	0.81[EUR][1000 genomes]
rs4121395	0.81[EUR][1000 genomes]
rs4338555	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4479013	0.81[EUR][1000 genomes]
rs482013	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs493065	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4943821	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4944242	0.81[EUR][1000 genomes]
rs4944258	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4944259	0.86[ASN][1000 genomes]
rs4945426	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4945434	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4945435	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs495567	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs510925	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs517837	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs541022	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs542752	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs547208	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs548961	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs552966	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs560777	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56097487	0.83[EUR][1000 genomes]
rs57025151	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs585228	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58991229	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs597513	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs598835	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs607446	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs610004	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs610041	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs615000	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs627329	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs636946	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs642573	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs642618	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs656640	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6592448	0.81[EUR][1000 genomes]
rs6592449	0.81[EUR][1000 genomes]
rs6592451	0.81[EUR][1000 genomes]
rs6592453	0.85[EUR][1000 genomes]
rs6592455	0.85[EUR][1000 genomes]
rs6592458	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6592459	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs659513	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs670802	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs671681	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs673478	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs675185	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs676721	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs677279	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs678193	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs679926	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7101701	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7113549	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7116188	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7116495	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7121260	0.85[EUR][1000 genomes]
rs7123102	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7124000	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7126838	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7127865	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7128317	0.85[EUR][1000 genomes]
rs7128974	0.85[EUR][1000 genomes]
rs73531952	0.85[EUR][1000 genomes]
rs73539532	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73543609	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73543633	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7480015	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7924516	0.81[EUR][1000 genomes]
rs7930142	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7930544	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7930721	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7930722	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7937515	0.88[ASN][1000 genomes]
rs7937582	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7949480	0.85[EUR][1000 genomes]
rs947932	0.81[EUR][1000 genomes]
rs949325	0.85[EUR][1000 genomes];0.85[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	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71814600-71815600	Flanking Active TSS	Brain Angular Gyrus	brain
2	chr11:71814600-71815600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr11:71814800-71816400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:71814800-71818600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:71814800-71820200	Weak transcription	Aorta	Aorta
6	chr11:71814800-71822600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:71815000-71815600	Enhancers	Primary T cells fromperipheralblood	blood
8	chr11:71815000-71815600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr11:71815000-71815600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:71815000-71815800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr11:71815000-71815800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr11:71815000-71816200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr11:71815000-71816800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:71815000-71817000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:71815000-71817000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:71815000-71818400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:71815000-71818400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:71815000-71818400	Weak transcription	Gastric	stomach
19	chr11:71815000-71818400	Weak transcription	Ovary	ovary
20	chr11:71815000-71818800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:71815000-71819000	Weak transcription	Esophagus	oesophagus
22	chr11:71815000-71820400	Weak transcription	Colonic Mucosa	Colon
23	chr11:71815000-71820800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr11:71815000-71822200	Weak transcription	HSMMtube	muscle
25	chr11:71815000-71822400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:71815000-71822400	Weak transcription	HMEC	breast
27	chr11:71815000-71822400	Weak transcription	HUVEC	blood vessel
28	chr11:71815000-71822600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:71815000-71822800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:71815000-71822800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:71815000-71823000	Weak transcription	Small Intestine	intestine
32	chr11:71815200-71815600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr11:71815200-71815600	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr11:71815200-71815600	Enhancers	Duodenum Mucosa	Duodenum
35	chr11:71815200-71815600	Weak transcription	Psoas Muscle	Psoas
36	chr11:71815200-71815800	Enhancers	Pancreas	Pancrea
37	chr11:71815200-71815800	Active TSS	Stomach Mucosa	stomach
38	chr11:71815200-71815800	Enhancers	K562	blood
39	chr11:71815200-71816000	Weak transcription	Fetal Brain Female	brain
40	chr11:71815200-71816200	Weak transcription	Primary T cells from cord blood	blood
41	chr11:71815200-71816800	Weak transcription	Brain Germinal Matrix	brain
42	chr11:71815200-71817000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:71815200-71817200	Weak transcription	Fetal Muscle Leg	muscle
44	chr11:71815200-71817200	Strong transcription	NHLF	lung
45	chr11:71815200-71818200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:71815200-71818200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr11:71815200-71818200	Weak transcription	Fetal Thymus	thymus
48	chr11:71815200-71818400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:71815200-71818400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:71815200-71818400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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