Variant report

Variant	rs2304399
Chromosome Location	chr2:11752635-11752636
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11681838	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11688915	1.00[CHB][hapmap]
rs13431704	1.00[CHD][hapmap]
rs13432243	1.00[CHD][hapmap]
rs1435547	1.00[CHD][hapmap]
rs1865575	1.00[CHD][hapmap]
rs2252958	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[ASN][1000 genomes]
rs4669756	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62118318	0.84[ASN][1000 genomes]
rs6730352	0.94[ASN][1000 genomes]
rs6735957	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[ASN][1000 genomes]
rs6744817	1.00[CHD][hapmap]
rs7596162	1.00[CHB][hapmap];1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv873663	chr2:11664349-11783775	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11678400-11757000	Weak transcription	Right Ventricle	heart
2	chr2:11694800-11755200	Weak transcription	Gastric	stomach
3	chr2:11700000-11767000	Weak transcription	Right Atrium	heart
4	chr2:11714400-11765000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:11717600-11767000	Weak transcription	Fetal Intestine Small	intestine
6	chr2:11724400-11788600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:11724600-11766800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:11724600-11766800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:11725600-11766800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:11733600-11784000	Strong transcription	HepG2	liver
11	chr2:11736200-11765000	Weak transcription	Fetal Lung	lung
12	chr2:11736400-11755400	Weak transcription	Brain Substantia Nigra	brain
13	chr2:11736800-11762800	Weak transcription	Fetal Heart	heart
14	chr2:11741400-11755400	Weak transcription	Liver	Liver
15	chr2:11743200-11765200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:11743400-11765000	Weak transcription	Left Ventricle	heart
17	chr2:11744000-11753000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:11745200-11765000	Weak transcription	Fetal Kidney	kidney
19	chr2:11747200-11767200	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:11748000-11766800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:11748400-11754200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:11748600-11767600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:11749000-11763200	Strong transcription	Fetal Stomach	stomach
24	chr2:11749000-11766800	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:11749400-11763400	Strong transcription	Fetal Muscle Trunk	muscle
26	chr2:11749600-11754000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:11749600-11754000	Strong transcription	Fetal Muscle Leg	muscle
28	chr2:11749600-11759600	Strong transcription	H9 Cell Line	embryonic stem cell
29	chr2:11750000-11752800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:11750000-11760200	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:11750400-11754000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:11750600-11757400	Strong transcription	Pancreas	Pancrea
33	chr2:11750800-11752800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr2:11750800-11753200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:11751000-11753400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:11751000-11755200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr2:11751400-11753200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:11751600-11757000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr2:11751800-11752800	Enhancers	A549	lung
40	chr2:11751800-11753000	Enhancers	Hela-S3	cervix
41	chr2:11751800-11753800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:11752000-11752800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:11752000-11752800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr2:11752000-11753400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
45	chr2:11752000-11784400	Strong transcription	Ovary	ovary
46	chr2:11752200-11761400	Weak transcription	Adipose Nuclei	Adipose
47	chr2:11752400-11752800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:11752400-11752800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:11752400-11752800	Genic enhancers	Brain Hippocampus Middle	brain
50	chr2:11752400-11753000	Enhancers	HMEC	breast

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