Variant report

Variant	rs34540361
Chromosome Location	chr2:30583715-30583716
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:30581763..30583811-chr2:30589547..30591280,2	MCF-7	breast:
2	chr2:30581738..30584056-chr2:30585628..30587536,2	MCF-7	breast:
3	chr2:30582322..30584359-chr2:30598766..30601460,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LBH-2	chr2:30582334-30583946	NONHSAT069906

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10195381	0.82[ASN][1000 genomes]
rs11888816	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11891295	0.94[ASN][1000 genomes]
rs11896639	0.86[EUR][1000 genomes]
rs13004173	0.94[ASN][1000 genomes]
rs34115418	0.90[ASN][1000 genomes]
rs34689327	0.90[ASN][1000 genomes]
rs34737435	0.81[ASN][1000 genomes]
rs35857367	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56778022	0.90[ASN][1000 genomes]
rs60473134	0.90[ASN][1000 genomes]
rs6722899	0.90[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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer 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	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30570200-30584800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:30579800-30584200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:30579800-30584600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:30581200-30586000	Enhancers	Fetal Thymus	thymus
5	chr2:30581400-30586000	Enhancers	Placenta	Placenta
6	chr2:30581400-30586200	Enhancers	Left Ventricle	heart
7	chr2:30581400-30586200	Enhancers	Right Ventricle	heart
8	chr2:30581600-30586400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:30581600-30586600	Enhancers	Primary T cells from cord blood	blood
10	chr2:30581800-30583800	Enhancers	Pancreas	Pancrea
11	chr2:30581800-30584000	Enhancers	Rectal Smooth Muscle	rectum
12	chr2:30581800-30586200	Enhancers	Lung	lung
13	chr2:30582000-30584200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:30582000-30586200	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr2:30582000-30586400	Enhancers	Adipose Nuclei	Adipose
16	chr2:30582000-30586400	Enhancers	Fetal Lung	lung
17	chr2:30582000-30591600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:30582400-30585600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:30582400-30586200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr2:30582400-30586200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr2:30582400-30586200	Enhancers	Spleen	Spleen
22	chr2:30582400-30589600	Enhancers	Fetal Heart	heart
23	chr2:30582600-30584000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr2:30582600-30586000	Enhancers	Primary T cells fromperipheralblood	blood
25	chr2:30582600-30586000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr2:30582600-30586200	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr2:30582800-30585600	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr2:30583000-30584400	Weak transcription	Osteobl	bone
29	chr2:30583000-30584800	Weak transcription	HSMMtube	muscle
30	chr2:30583000-30585400	Weak transcription	Fetal Intestine Small	intestine
31	chr2:30583000-30585600	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr2:30583200-30584000	Enhancers	Thymus	Thymus
33	chr2:30583200-30584200	Weak transcription	NHDF-Ad	bronchial
34	chr2:30583200-30584400	Weak transcription	Fetal Muscle Leg	muscle
35	chr2:30583200-30584400	Weak transcription	Psoas Muscle	Psoas
36	chr2:30583200-30585200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:30583200-30585400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:30583200-30585400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr2:30583200-30585400	Enhancers	Stomach Smooth Muscle	stomach
40	chr2:30583200-30586000	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr2:30583200-30586000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:30583200-30589400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr2:30583200-30591400	Weak transcription	Gastric	stomach
44	chr2:30583400-30583800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:30583400-30583800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:30583400-30584600	Weak transcription	Colon Smooth Muscle	Colon
47	chr2:30583400-30584600	Weak transcription	Ovary	ovary
48	chr2:30583400-30584600	Weak transcription	NH-A	brain
49	chr2:30583400-30584600	Weak transcription	NHLF	lung
50	chr2:30583400-30585200	Weak transcription	Fetal Stomach	stomach

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