Variant report

Variant	rs1790393
Chromosome Location	chr11:73789877-73789878
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73789299..73790819-chr11:73795189..73797595,2	K562	blood:
2	chr11:73784249..73785806-chr11:73788589..73790911,2	MCF-7	breast:
3	chr11:73691323..73693663-chr11:73787820..73789908,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175567	Chromatin interaction
ENSG00000168014	Chromatin interaction

Extended variants
information (count: 159 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:158)

rs_ID	r²[population]
rs10488770	1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10488771	0.86[ASN][1000 genomes]
rs10501413	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10501414	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1055178	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1095419	1.00[AMR][1000 genomes]
rs1095420	1.00[AMR][1000 genomes]
rs1095421	1.00[AMR][1000 genomes]
rs1095427	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1095428	1.00[AMR][1000 genomes]
rs1103886	0.86[EUR][1000 genomes]
rs11235979	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235981	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235982	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12277116	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12277407	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12280063	1.00[GIH][hapmap]
rs12287317	1.00[AMR][1000 genomes]
rs12291090	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12291461	1.00[GIH][hapmap];1.00[AMR][1000 genomes]
rs12295243	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12794753	0.86[ASN][1000 genomes]
rs1617256	1.00[AMR][1000 genomes]
rs1618253	1.00[AMR][1000 genomes]
rs1618727	1.00[GIH][hapmap]
rs1622307	1.00[AMR][1000 genomes]
rs1685341	1.00[AMR][1000 genomes]
rs1685343	1.00[GIH][hapmap];1.00[AMR][1000 genomes]
rs17132602	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132610	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132620	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17132629	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17132632	1.00[GIH][hapmap]
rs17132721	1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17132796	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132801	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132816	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132818	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132826	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132836	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132837	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132846	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132855	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132864	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132870	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132873	1.00[GIH][hapmap]
rs17132881	1.00[JPT][hapmap]
rs17132882	1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132891	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17132914	0.86[ASN][1000 genomes]
rs17132921	0.86[ASN][1000 genomes]
rs17132931	0.86[ASN][1000 genomes]
rs17160052	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1726758	1.00[AMR][1000 genomes]
rs1726760	1.00[GIH][hapmap]
rs1726761	1.00[GIH][hapmap];1.00[AMR][1000 genomes]
rs1790392	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2154971	0.86[ASN][1000 genomes]
rs2186561	0.86[ASN][1000 genomes]
rs2272321	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34895949	0.86[ASN][1000 genomes]
rs3897548	1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4121666	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4489773	1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4575301	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs55793503	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55814391	0.86[ASN][1000 genomes]
rs56142225	0.86[ASN][1000 genomes]
rs56171120	0.86[ASN][1000 genomes]
rs56343229	0.86[ASN][1000 genomes]
rs56808069	0.86[ASN][1000 genomes]
rs56984031	0.86[ASN][1000 genomes]
rs57115412	0.86[ASN][1000 genomes]
rs57384187	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57393325	0.86[ASN][1000 genomes]
rs57642592	0.86[ASN][1000 genomes]
rs58102808	0.86[ASN][1000 genomes]
rs58421256	0.86[ASN][1000 genomes]
rs58727177	1.00[ASN][1000 genomes]
rs58898896	0.86[ASN][1000 genomes]
rs60044681	0.86[ASN][1000 genomes]
rs60206858	0.86[ASN][1000 genomes]
rs60218608	0.86[ASN][1000 genomes]
rs60219367	0.86[ASN][1000 genomes]
rs60636561	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60759798	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60981452	0.86[ASN][1000 genomes]
rs61132076	0.86[ASN][1000 genomes]
rs6592549	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6592550	1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs699141	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs7106817	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7107268	0.86[ASN][1000 genomes]
rs7110062	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7113898	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7117091	1.00[GIH][hapmap]
rs7120494	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7126696	0.86[ASN][1000 genomes]
rs7127358	1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7129659	1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7129774	1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs73549014	0.86[ASN][1000 genomes]
rs73549059	0.86[ASN][1000 genomes]
rs73549071	0.86[ASN][1000 genomes]
rs73550730	0.86[ASN][1000 genomes]
rs73550751	0.86[ASN][1000 genomes]
rs73550754	0.86[ASN][1000 genomes]
rs73550755	0.86[ASN][1000 genomes]
rs73550761	0.86[ASN][1000 genomes]
rs73550772	0.86[ASN][1000 genomes]
rs73555974	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73555986	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73557906	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73561882	0.86[ASN][1000 genomes]
rs73561885	0.86[ASN][1000 genomes]
rs73565826	0.86[ASN][1000 genomes]
rs73565828	0.86[ASN][1000 genomes]
rs73565829	0.86[ASN][1000 genomes]
rs73565839	0.86[ASN][1000 genomes]
rs73565840	0.86[ASN][1000 genomes]
rs73565842	0.86[ASN][1000 genomes]
rs7924965	1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7925320	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7925695	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7926891	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7943916	0.86[ASN][1000 genomes]
rs7947458	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs826032	1.00[AMR][1000 genomes]
rs826034	1.00[AMR][1000 genomes]
rs826036	1.00[AMR][1000 genomes]
rs826037	1.00[AMR][1000 genomes]
rs826040	1.00[AMR][1000 genomes]
rs826041	1.00[AMR][1000 genomes]
rs826043	1.00[AMR][1000 genomes]
rs826045	1.00[AMR][1000 genomes]
rs826047	1.00[GIH][hapmap];1.00[AMR][1000 genomes]
rs826048	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs826052	1.00[AMR][1000 genomes]
rs826053	0.91[AMR][1000 genomes]
rs826059	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs826063	0.91[ASW][hapmap];1.00[GIH][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs826065	0.91[ASW][hapmap];1.00[GIH][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs826067	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs826068	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs826069	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs826070	1.00[AMR][1000 genomes]
rs826071	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs826072	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs826073	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs826075	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs826081	1.00[GIH][hapmap]
rs826082	1.00[GIH][hapmap]
rs826085	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs826086	1.00[GIH][hapmap];1.00[AMR][1000 genomes]
rs826088	1.00[GIH][hapmap];1.00[AMR][1000 genomes]
rs826091	1.00[GIH][hapmap]
rs861144	1.00[AMR][1000 genomes]
rs947840	1.00[JPT][hapmap];0.86[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	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73730800-73800800	Weak transcription	Fetal Heart	heart
2	chr11:73750800-73800400	Weak transcription	HMEC	breast
3	chr11:73753200-73796400	Weak transcription	Small Intestine	intestine
4	chr11:73753200-73804600	Weak transcription	Colonic Mucosa	Colon
5	chr11:73760000-73802600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr11:73768800-73798200	Weak transcription	NHEK	skin
7	chr11:73777600-73818600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:73778000-73790600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:73778200-73791000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:73778400-73790000	Strong transcription	Fetal Thymus	thymus
11	chr11:73778800-73790200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr11:73778800-73790400	Strong transcription	Fetal Muscle Leg	muscle
13	chr11:73778800-73790400	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr11:73778800-73792800	Strong transcription	Primary B cells from cord blood	blood
15	chr11:73779000-73790200	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr11:73779000-73792600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr11:73779200-73791000	Strong transcription	Fetal Muscle Trunk	muscle
18	chr11:73779600-73790800	Strong transcription	Primary T cells from cord blood	blood
19	chr11:73780200-73790400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr11:73780200-73790800	Strong transcription	Primary B cells from peripheral blood	blood
21	chr11:73780600-73790000	Strong transcription	Hela-S3	cervix
22	chr11:73780600-73790400	Strong transcription	Dnd41	blood
23	chr11:73781200-73795800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr11:73781400-73790200	Strong transcription	Duodenum Mucosa	Duodenum
25	chr11:73781800-73849200	Weak transcription	Stomach Mucosa	stomach
26	chr11:73782200-73796400	Weak transcription	Right Ventricle	heart
27	chr11:73782600-73823800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr11:73782800-73790400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr11:73782800-73790600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr11:73782800-73795400	Weak transcription	K562	blood
31	chr11:73783600-73790400	Strong transcription	Placenta	Placenta
32	chr11:73784200-73796600	Weak transcription	Psoas Muscle	Psoas
33	chr11:73784200-73801000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:73785400-73792000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:73785400-73795200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr11:73785400-73800400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr11:73785600-73795000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:73785600-73796800	Weak transcription	Fetal Kidney	kidney
39	chr11:73785600-73797400	Weak transcription	HUVEC	blood vessel
40	chr11:73785600-73800200	Weak transcription	NH-A	brain
41	chr11:73785600-73803400	Weak transcription	NHDF-Ad	bronchial
42	chr11:73785600-73823600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr11:73786800-73792400	Strong transcription	HSMMtube	muscle
44	chr11:73786800-73792800	Strong transcription	HSMM	muscle
45	chr11:73787200-73795200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr11:73787400-73790200	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr11:73787400-73790200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:73787400-73790800	Strong transcription	Primary hematopoietic stem cells	blood
49	chr11:73787600-73790200	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr11:73787600-73793000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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