Variant report

Variant	rs2116684
Chromosome Location	chr3:150471737-150471738
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:150456316..150460204-chr3:150468516..150472450,4	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10513377	0.95[CHB][hapmap];0.80[JPT][hapmap]
rs1444197	1.00[CEU][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes]
rs1533711	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs16862837	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs16862842	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1838337	0.83[AMR][1000 genomes]
rs1879420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1879421	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs1915365	0.83[AMR][1000 genomes]
rs2014279	1.00[CEU][hapmap];0.81[JPT][hapmap]
rs2018246	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs2116685	0.81[ASN][1000 genomes]
rs2120596	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2166061	0.81[EUR][1000 genomes]
rs34348847	1.00[CEU][hapmap];0.84[JPT][hapmap]
rs34771595	0.81[AMR][1000 genomes]
rs3851356	1.00[CEU][hapmap]
rs41372346	1.00[CEU][hapmap];0.81[CHB][hapmap];0.84[JPT][hapmap];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs41454348	1.00[CEU][hapmap];0.83[AMR][1000 genomes]
rs481236	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs502941	0.89[JPT][hapmap]
rs57359526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57965761	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58418105	0.89[ASN][1000 genomes]
rs594926	0.89[JPT][hapmap]
rs60092981	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60523415	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60538652	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61628582	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6440697	1.00[CEU][hapmap]
rs6788895	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs6789306	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap]
rs6805481	1.00[CEU][hapmap]
rs73006998	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73010947	0.87[ASN][1000 genomes]
rs73869297	0.84[AMR][1000 genomes]
rs7615125	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7615292	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7617507	1.00[CEU][hapmap]
rs7628481	1.00[CEU][hapmap];0.84[AMR][1000 genomes]
rs7628776	1.00[CEU][hapmap]
rs7636866	1.00[CEU][hapmap];0.95[JPT][hapmap]
rs939476	0.95[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150453800-150478000	Weak transcription	Brain Germinal Matrix	brain
2	chr3:150454600-150477200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:150456400-150477600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr3:150456600-150477600	Weak transcription	Fetal Brain Male	brain
5	chr3:150456800-150477400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr3:150457000-150478800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr3:150457600-150477600	Weak transcription	HUVEC	blood vessel
8	chr3:150459000-150477600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr3:150460200-150477600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr3:150460400-150475200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:150460400-150477600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:150461200-150471800	Enhancers	Stomach Mucosa	stomach
13	chr3:150461200-150474000	Weak transcription	Dnd41	blood
14	chr3:150461800-150472000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:150462800-150477000	Weak transcription	Brain Angular Gyrus	brain
16	chr3:150463000-150475400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr3:150463000-150477800	Weak transcription	NH-A	brain
18	chr3:150463000-150478400	Weak transcription	HSMM	muscle
19	chr3:150463200-150475600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr3:150463200-150477600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr3:150464800-150477000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:150465000-150475200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr3:150466200-150477600	Weak transcription	Aorta	Aorta
24	chr3:150466400-150477800	Weak transcription	Brain Substantia Nigra	brain
25	chr3:150466800-150472800	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr3:150466800-150477600	Weak transcription	Brain Hippocampus Middle	brain
27	chr3:150467000-150477000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr3:150467000-150477600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr3:150467000-150477600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr3:150467200-150473600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:150467200-150473800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:150467200-150477000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:150467400-150474000	Weak transcription	Adipose Nuclei	Adipose
34	chr3:150467400-150474000	Weak transcription	Osteobl	bone
35	chr3:150467400-150477200	Weak transcription	NHDF-Ad	bronchial
36	chr3:150467400-150477600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr3:150468200-150472200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr3:150468200-150474000	Enhancers	Liver	Liver
39	chr3:150468400-150473200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr3:150469200-150472400	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr3:150469400-150473200	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr3:150470000-150472600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr3:150470000-150474000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
44	chr3:150470000-150477000	Weak transcription	A549	lung
45	chr3:150470000-150477600	Weak transcription	Fetal Lung	lung
46	chr3:150470000-150477800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:150470000-150478800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr3:150470200-150473000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr3:150470200-150473800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr3:150470200-150473800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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