Variant report

Variant	rs73496931
Chromosome Location	chr11:74632628-74632629
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74627234..74630197-chr11:74631970..74635278,5	K562	blood:
2	chr11:74631440..74633367-chr11:74659822..74661525,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000241170	Chromatin interaction
ENSG00000166435	Chromatin interaction
ENSG00000118363	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10160407	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236224	1.00[ASN][1000 genomes]
rs11236229	1.00[ASN][1000 genomes]
rs11236239	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11236247	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236249	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236259	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11236293	0.83[AMR][1000 genomes]
rs11501909	1.00[ASN][1000 genomes]
rs11501910	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12098929	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12270712	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12271211	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12271960	0.83[AMR][1000 genomes]
rs12272764	1.00[ASN][1000 genomes]
rs12273852	0.83[AMR][1000 genomes]
rs12274227	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275050	0.83[AMR][1000 genomes]
rs12275056	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12278314	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12283412	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12283768	1.00[ASN][1000 genomes]
rs12284331	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12286425	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12286482	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12287287	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12288052	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12290339	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12292428	0.83[AMR][1000 genomes]
rs12295546	0.83[AMR][1000 genomes]
rs13343191	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1439677	0.83[AMR][1000 genomes]
rs28637653	0.85[AMR][1000 genomes]
rs4133526	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56306513	1.00[ASN][1000 genomes]
rs57031821	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592593	1.00[ASN][1000 genomes]
rs7109667	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7111955	0.83[AMR][1000 genomes]
rs7125078	1.00[ASN][1000 genomes]
rs7128783	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72991236	1.00[ASN][1000 genomes]
rs72991239	1.00[ASN][1000 genomes]
rs72991244	1.00[ASN][1000 genomes]
rs73490680	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73490691	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73492727	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73492743	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73492794	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73496929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73498736	0.83[AMR][1000 genomes]
rs73498737	0.83[AMR][1000 genomes]
rs7928010	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7947106	1.00[ASN][1000 genomes]
rs9943586	0.86[AFR][1000 genomes];0.85[AMR][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	nsv832210	chr11:74562782-74732133	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74588400-74636000	Weak transcription	NHLF	lung
2	chr11:74594800-74646600	Weak transcription	Small Intestine	intestine
3	chr11:74607600-74637400	Weak transcription	Pancreas	Pancrea
4	chr11:74612800-74634000	Weak transcription	Psoas Muscle	Psoas
5	chr11:74613800-74637400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:74614600-74633600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:74615000-74636200	Weak transcription	A549	lung
8	chr11:74615200-74637200	Weak transcription	HMEC	breast
9	chr11:74615800-74633600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr11:74615800-74644800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr11:74616000-74634200	Strong transcription	Duodenum Mucosa	Duodenum
12	chr11:74616000-74634800	Strong transcription	Fetal Intestine Large	intestine
13	chr11:74616200-74634000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:74616400-74633600	Strong transcription	Stomach Smooth Muscle	stomach
15	chr11:74616400-74634400	Strong transcription	Primary T cells from cord blood	blood
16	chr11:74616400-74646000	Weak transcription	Spleen	Spleen
17	chr11:74616400-74656200	Weak transcription	Stomach Mucosa	stomach
18	chr11:74617200-74635200	Strong transcription	Fetal Muscle Trunk	muscle
19	chr11:74617400-74648200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:74618000-74659600	Weak transcription	Esophagus	oesophagus
21	chr11:74618400-74653800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:74619200-74639800	Weak transcription	K562	blood
23	chr11:74620000-74646200	Weak transcription	Right Ventricle	heart
24	chr11:74620400-74659600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr11:74621200-74634800	Strong transcription	Primary B cells from cord blood	blood
26	chr11:74622400-74633000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:74622800-74633000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:74624200-74643200	Weak transcription	HSMMtube	muscle
29	chr11:74624600-74632800	Strong transcription	Thymus	Thymus
30	chr11:74625400-74633000	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr11:74625400-74634200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:74625600-74633000	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr11:74625800-74633000	Strong transcription	Ovary	ovary
34	chr11:74625800-74633400	Strong transcription	Fetal Muscle Leg	muscle
35	chr11:74626200-74632800	Strong transcription	Placenta	Placenta
36	chr11:74626200-74633000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr11:74627600-74633000	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr11:74627800-74633000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr11:74627800-74633000	Strong transcription	Brain Hippocampus Middle	brain
40	chr11:74627800-74659200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr11:74628000-74632800	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr11:74628000-74633000	Strong transcription	Fetal Kidney	kidney
43	chr11:74628000-74633200	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr11:74628200-74659600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:74628400-74640800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr11:74628800-74633000	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr11:74629000-74633000	Strong transcription	Osteobl	bone
48	chr11:74629200-74634400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:74629400-74633000	Strong transcription	Colonic Mucosa	Colon
50	chr11:74629400-74634200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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