Variant report

Variant	rs6730216
Chromosome Location	chr2:208833257-208833258
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10192065	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs1037416	0.83[CHB][hapmap];0.89[JPT][hapmap]
rs10497891	0.86[CHB][hapmap]
rs10497892	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs10932218	0.81[ASN][1000 genomes]
rs11676872	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs11679492	0.90[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs11687058	0.86[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs11692908	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs12694097	0.83[ASN][1000 genomes]
rs13006024	0.86[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs13011597	0.81[ASN][1000 genomes]
rs13025100	0.86[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs13402422	0.84[JPT][hapmap]
rs2044971	0.86[CHB][hapmap];0.80[GIH][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs2100349	0.84[ASN][1000 genomes]
rs2100351	0.84[ASN][1000 genomes]
rs2123294	0.86[CHB][hapmap];0.80[GIH][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs2123295	0.84[ASN][1000 genomes]
rs2362783	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs35086013	0.83[ASN][1000 genomes]
rs35726860	0.84[ASN][1000 genomes]
rs3795911	0.86[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs3795912	0.86[CHB][hapmap];0.80[GIH][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs4021953	0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4441448	0.83[ASN][1000 genomes]
rs4507086	0.86[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4673377	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs6712527	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs6718363	0.82[ASN][1000 genomes]
rs6731479	0.83[ASN][1000 genomes]
rs6733857	0.86[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs6741366	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs7355275	0.86[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs7562306	0.84[ASN][1000 genomes]
rs7570588	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs7593972	0.86[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs7595734	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs7595823	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs896636	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs930746	0.86[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs9679132	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208796000-208835200	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:208798800-208834200	Weak transcription	Brain Anterior Caudate	brain
3	chr2:208810400-208833600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:208810400-208841000	Weak transcription	Fetal Lung	lung
5	chr2:208811200-208835200	Weak transcription	Brain Angular Gyrus	brain
6	chr2:208815400-208835400	Weak transcription	Right Ventricle	heart
7	chr2:208815400-208840800	Weak transcription	Ovary	ovary
8	chr2:208816600-208834000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:208817200-208834600	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:208819200-208834000	Weak transcription	Stomach Mucosa	stomach
11	chr2:208825200-208841400	Weak transcription	Aorta	Aorta
12	chr2:208825600-208841400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:208826600-208841400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:208826800-208840800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:208827200-208841400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:208827200-208841400	Weak transcription	Pancreas	Pancrea
17	chr2:208827400-208834000	Weak transcription	HepG2	liver
18	chr2:208827400-208834800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:208827400-208835200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr2:208827400-208841400	Weak transcription	Left Ventricle	heart
21	chr2:208827400-208841400	Weak transcription	Lung	lung
22	chr2:208827400-208857400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:208827600-208834200	Weak transcription	Fetal Intestine Large	intestine
24	chr2:208827600-208834800	Weak transcription	Primary B cells from peripheral blood	blood
25	chr2:208827800-208840800	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:208828000-208834400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:208828000-208834800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr2:208828000-208834800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:208828000-208840800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:208828000-208841000	Weak transcription	Fetal Thymus	thymus
31	chr2:208828200-208833400	Weak transcription	Fetal Intestine Small	intestine
32	chr2:208828200-208834600	Weak transcription	Primary B cells from cord blood	blood
33	chr2:208828200-208835000	Weak transcription	Primary T cells from cord blood	blood
34	chr2:208828200-208838600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr2:208828200-208838600	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr2:208828200-208840400	Weak transcription	Thymus	Thymus
37	chr2:208828200-208841400	Weak transcription	Dnd41	blood
38	chr2:208828400-208834200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:208831000-208834400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr2:208831800-208834200	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr2:208831800-208834400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:208831800-208836000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:208832000-208834000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:208832000-208834000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr2:208832000-208836800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr2:208832200-208834600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:208832200-208834600	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr2:208832400-208834600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr2:208832600-208834200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
50	chr2:208832600-208834600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell

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