Variant report

Variant	rs1048374
Chromosome Location	chr11:58902679-58902680
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:58896273..58898836-chr11:58901279..58902925,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MPEG1-2	chr11:58901697-58903061	ENSG00000245571
2	lnc-MPEG1-2	chr11:58902051-58903061	XLOC_009445
3	lnc-MPEG1-2	chr11:58901712-58903061	NONHSAT021502
4	lnc-MPEG1-2	chr11:58901446-58903061	NR_110184

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10896948	1.00[CEU][hapmap]
rs10896954	1.00[CEU][hapmap]
rs11229802	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11229810	0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229821	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229829	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229831	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11229832	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229835	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs11229836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs11229838	1.00[EUR][1000 genomes]
rs11229841	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs11229842	1.00[EUR][1000 genomes]
rs11229843	1.00[EUR][1000 genomes]
rs11229844	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11229845	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs11229847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs11229853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs11229871	1.00[CEU][hapmap]
rs11229891	1.00[CEU][hapmap]
rs11229905	1.00[CEU][hapmap]
rs12221768	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs12222675	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12223085	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12223473	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12225532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs12225972	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12275736	1.00[CEU][hapmap]
rs17153381	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2154626	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2154627	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2154964	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2154965	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35732637	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55742277	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56349021	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57969871	1.00[EUR][1000 genomes]
rs60519524	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60795438	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60883299	1.00[EUR][1000 genomes]
rs7951382	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv2758272	chr11:58700092-59008673	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2759830	chr11:58700092-59008673	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv2757447	chr11:58746238-58906018	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv975329	chr11:58767290-58907813	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv430388	chr11:58769524-58925824	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	nsv975190	chr11:58893580-58903375	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58875200-58909600	Weak transcription	Stomach Mucosa	stomach
2	chr11:58875400-58909600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:58881600-58903600	Weak transcription	Hela-S3	cervix
4	chr11:58886800-58903400	Weak transcription	NHEK	skin
5	chr11:58893800-58903400	Weak transcription	HUVEC	blood vessel
6	chr11:58893800-58909600	Weak transcription	Fetal Brain Male	brain
7	chr11:58895800-58903400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:58896200-58903200	Strong transcription	Primary T cells from cord blood	blood
9	chr11:58897400-58903600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr11:58897600-58902800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:58897600-58903200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr11:58898000-58902800	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr11:58898200-58902800	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr11:58898400-58902800	Strong transcription	Liver	Liver
15	chr11:58898400-58902800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr11:58898800-58902800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:58899000-58909600	Weak transcription	Colon Smooth Muscle	Colon
18	chr11:58899200-58903200	Weak transcription	Pancreas	Pancrea
19	chr11:58899200-58903200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr11:58899400-58903400	Weak transcription	Fetal Kidney	kidney
21	chr11:58899600-58903200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr11:58899600-58903400	Weak transcription	Brain Anterior Caudate	brain
23	chr11:58899600-58903400	Weak transcription	Brain Hippocampus Middle	brain
24	chr11:58899600-58903600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:58899600-58903600	Weak transcription	Esophagus	oesophagus
26	chr11:58899600-58909600	Weak transcription	Aorta	Aorta
27	chr11:58899800-58902800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:58899800-58903000	Strong transcription	Fetal Intestine Large	intestine
29	chr11:58899800-58903200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:58899800-58903200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr11:58899800-58903200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:58899800-58903200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr11:58899800-58903200	Weak transcription	Fetal Muscle Leg	muscle
34	chr11:58899800-58903200	Weak transcription	Fetal Stomach	stomach
35	chr11:58899800-58903400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr11:58899800-58903400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr11:58899800-58903400	Weak transcription	Placenta	Placenta
38	chr11:58899800-58903400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr11:58899800-58904800	Weak transcription	Left Ventricle	heart
40	chr11:58899800-58909600	Weak transcription	Colonic Mucosa	Colon
41	chr11:58899800-58909800	Weak transcription	Gastric	stomach
42	chr11:58899800-58909800	Weak transcription	Small Intestine	intestine
43	chr11:58899800-58910000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:58900000-58903000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:58900000-58903200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr11:58900000-58903400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:58900000-58903400	Weak transcription	HepG2	liver
48	chr11:58900000-58903400	Weak transcription	HMEC	breast
49	chr11:58900000-58909400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:58900000-58909400	Weak transcription	A549	lung

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