Variant report

Variant	rs73543612
Chromosome Location	chr11:71820350-71820351
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71818013..71820422-chr11:71937441..71939069,2	MCF-7	breast:
2	chr11:71749172..71754555-chr11:71820034..71825981,11	MCF-7	breast:
3	chr11:71785228..71787709-chr11:71818324..71820591,2	K562	blood:
4	chr11:71776490..71778244-chr11:71818922..71820939,2	K562	blood:

Variant related genes	Relation type
ENSG00000137497	Chromatin interaction
ENSG00000165458	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10450664	0.82[ASN][1000 genomes]
rs10501408	0.86[ASN][1000 genomes]
rs1057992	0.90[ASN][1000 genomes]
rs10736780	0.86[ASN][1000 genomes]
rs10736783	0.86[ASN][1000 genomes]
rs10751188	0.86[ASN][1000 genomes]
rs10751191	0.86[ASN][1000 genomes]
rs10751192	0.86[ASN][1000 genomes]
rs10793011	0.86[ASN][1000 genomes]
rs10793013	0.86[ASN][1000 genomes]
rs10793014	0.86[ASN][1000 genomes]
rs10793015	0.86[ASN][1000 genomes]
rs10898812	0.86[ASN][1000 genomes]
rs11235441	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11235444	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12272086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275171	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12293195	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12417471	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1541304	0.87[ASN][1000 genomes]
rs1548348	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1573501	0.90[ASN][1000 genomes]
rs1573503	0.87[ASN][1000 genomes]
rs17161751	0.86[ASN][1000 genomes]
rs1892920	0.86[ASN][1000 genomes]
rs1894004	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2155142	0.86[ASN][1000 genomes]
rs2155145	0.90[ASN][1000 genomes]
rs2155146	0.85[ASN][1000 genomes]
rs2276384	0.86[ASN][1000 genomes]
rs2276396	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2503	0.90[ASN][1000 genomes]
rs2508856	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2508860	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2511120	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2735787	0.90[ASN][1000 genomes]
rs2845860	0.86[ASN][1000 genomes]
rs2852365	0.87[ASN][1000 genomes]
rs3018310	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3750907	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3829215	0.86[ASN][1000 genomes]
rs4245463	0.90[ASN][1000 genomes]
rs4378421	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4387373	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4399349	0.84[ASN][1000 genomes]
rs4412771	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4477459	0.90[ASN][1000 genomes]
rs482197	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4944243	0.86[ASN][1000 genomes]
rs4945378	0.86[ASN][1000 genomes]
rs4945392	0.86[ASN][1000 genomes]
rs510925	0.86[AMR][1000 genomes]
rs541228	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs56255748	0.86[ASN][1000 genomes]
rs564294	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs567026	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs575831	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs575871	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs577435	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58417942	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs595062	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60054591	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs612255	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs628025	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs645603	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6592447	0.86[ASN][1000 genomes]
rs6592456	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6592457	0.90[ASN][1000 genomes]
rs661290	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs671132	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs674319	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs686340	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7101553	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7102523	0.86[ASN][1000 genomes]
rs7106653	0.86[ASN][1000 genomes]
rs7106730	0.86[ASN][1000 genomes]
rs7111379	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7113436	0.86[ASN][1000 genomes]
rs7113520	0.86[ASN][1000 genomes]
rs7115513	0.86[ASN][1000 genomes]
rs7121080	0.86[ASN][1000 genomes]
rs7126394	0.85[ASN][1000 genomes]
rs73531955	0.86[ASN][1000 genomes]
rs73543635	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73543640	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73543643	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7924834	0.86[ASN][1000 genomes]
rs7942626	0.86[ASN][1000 genomes]
rs7951564	0.82[ASN][1000 genomes]
rs949323	0.83[ASN][1000 genomes]
rs949326	0.85[ASN][1000 genomes]
rs9666346	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[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	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
2	nsv983187	chr11:71815746-71821103	Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71814800-71822600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:71815000-71820400	Weak transcription	Colonic Mucosa	Colon
3	chr11:71815000-71820800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:71815000-71822200	Weak transcription	HSMMtube	muscle
5	chr11:71815000-71822400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:71815000-71822400	Weak transcription	HMEC	breast
7	chr11:71815000-71822400	Weak transcription	HUVEC	blood vessel
8	chr11:71815000-71822600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:71815000-71822800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:71815000-71822800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:71815000-71823000	Weak transcription	Small Intestine	intestine
12	chr11:71815200-71820600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:71815200-71820600	Weak transcription	A549	lung
14	chr11:71815200-71821000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:71815200-71821000	Weak transcription	NH-A	brain
16	chr11:71815200-71822200	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:71815200-71822200	Weak transcription	Fetal Lung	lung
18	chr11:71815200-71822200	Weak transcription	GM12878-XiMat	blood
19	chr11:71815200-71822400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr11:71815200-71822400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr11:71815200-71822400	Weak transcription	Fetal Brain Male	brain
22	chr11:71815200-71822600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:71815200-71822600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr11:71815200-71822600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:71815200-71822600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:71815200-71822600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr11:71815200-71822600	Weak transcription	Fetal Kidney	kidney
28	chr11:71815200-71822600	Weak transcription	Osteobl	bone
29	chr11:71815200-71822800	Weak transcription	Left Ventricle	heart
30	chr11:71815400-71822000	Weak transcription	Primary B cells from cord blood	blood
31	chr11:71815400-71822000	Weak transcription	Hela-S3	cervix
32	chr11:71815400-71822400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr11:71815400-71822400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr11:71815400-71822400	Weak transcription	Fetal Heart	heart
35	chr11:71815400-71822400	Weak transcription	HepG2	liver
36	chr11:71815400-71822600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr11:71815400-71822600	Weak transcription	Liver	Liver
38	chr11:71815400-71822600	Weak transcription	Brain Substantia Nigra	brain
39	chr11:71815400-71822600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr11:71815400-71822600	Weak transcription	HSMM	muscle
41	chr11:71815600-71821600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr11:71815600-71822600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr11:71815800-71822200	Weak transcription	Pancreas	Pancrea
44	chr11:71815800-71822200	Weak transcription	Psoas Muscle	Psoas
45	chr11:71815800-71822200	Weak transcription	K562	blood
46	chr11:71816000-71822400	Strong transcription	Fetal Intestine Small	intestine
47	chr11:71816200-71822400	Strong transcription	Primary T cells from cord blood	blood
48	chr11:71816400-71821800	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr11:71816400-71822200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:71817000-71822200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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