Variant report

Variant	rs4344498
Chromosome Location	chr11:66994263-66994264
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	chr11:66992333..66994620-chr11:66998395..67000143,2	K562	blood:
2	chr11:66985161..66986852-chr11:66992934..66995353,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173120	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10400320	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10732253	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10750796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1253784	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1894111	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3741189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825022	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4271388	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4457752	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57327069	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57478329	0.81[EUR][1000 genomes]
rs57724865	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58224869	1.00[EUR][1000 genomes]
rs59057433	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59817822	0.94[EUR][1000 genomes]
rs61180657	0.82[ASN][1000 genomes]
rs61663253	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs645387	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs655168	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs682509	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7937611	0.81[AFR][1000 genomes];1.00[EUR][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	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66936400-67006200	Weak transcription	Stomach Mucosa	stomach
2	chr11:66956400-67005000	Weak transcription	Fetal Heart	heart
3	chr11:66962200-66999000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:66962600-66995000	Weak transcription	Psoas Muscle	Psoas
5	chr11:66964600-67002400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:66965200-67006400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:66972800-67002600	Strong transcription	Fetal Muscle Trunk	muscle
8	chr11:66973000-67005400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:66974800-66997600	Strong transcription	Fetal Thymus	thymus
10	chr11:66980400-67002200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:66980800-67005600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr11:66981000-67003800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:66981600-67005200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr11:66981800-67006400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:66982000-66997800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:66982000-67005800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr11:66982400-67003800	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr11:66982800-67002600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:66982800-67002600	Strong transcription	Adipose Nuclei	Adipose
20	chr11:66983800-66995200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr11:66985200-66994400	Weak transcription	K562	blood
22	chr11:66985800-66995000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:66986200-66994800	Weak transcription	HUVEC	blood vessel
24	chr11:66987000-66995200	Weak transcription	NHEK	skin
25	chr11:66987000-67006000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:66987200-66994600	Weak transcription	Brain Substantia Nigra	brain
27	chr11:66987200-66994600	Weak transcription	Fetal Lung	lung
28	chr11:66987200-66995200	Weak transcription	Brain Angular Gyrus	brain
29	chr11:66987200-66995200	Weak transcription	Gastric	stomach
30	chr11:66987200-66995400	Weak transcription	NHLF	lung
31	chr11:66987800-66994600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:66987800-66994600	Weak transcription	Fetal Brain Female	brain
33	chr11:66987800-66995400	Weak transcription	Fetal Brain Male	brain
34	chr11:66987800-66995400	Weak transcription	Right Ventricle	heart
35	chr11:66987800-66995600	Weak transcription	Pancreas	Pancrea
36	chr11:66987800-66995800	Weak transcription	Aorta	Aorta
37	chr11:66988400-66995600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr11:66988400-66999000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr11:66988600-66994800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr11:66988600-66995600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr11:66988800-66994400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:66988800-66994800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr11:66988800-66995200	Weak transcription	NH-A	brain
44	chr11:66989200-66994600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr11:66989200-66998400	Weak transcription	Small Intestine	intestine
46	chr11:66989400-66994600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr11:66989400-66994800	Weak transcription	HepG2	liver
48	chr11:66989400-66995400	Weak transcription	Colon Smooth Muscle	Colon
49	chr11:66990200-67002200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:66990400-66997600	Strong transcription	Primary T cells fromperipheralblood	blood

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