Variant report

Variant	rs17027850
Chromosome Location	chr2:63631046-63631047
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10176805	1.00[EUR][1000 genomes]
rs10180262	1.00[EUR][1000 genomes]
rs10187907	1.00[EUR][1000 genomes]
rs10199938	1.00[EUR][1000 genomes]
rs10203623	1.00[EUR][1000 genomes]
rs10203845	1.00[EUR][1000 genomes]
rs11125951	1.00[EUR][1000 genomes]
rs13403570	1.00[EUR][1000 genomes]
rs13408991	1.00[EUR][1000 genomes]
rs13419820	1.00[EUR][1000 genomes]
rs13423930	1.00[EUR][1000 genomes]
rs13424984	1.00[EUR][1000 genomes]
rs13426053	1.00[EUR][1000 genomes]
rs13431266	1.00[EUR][1000 genomes]
rs17027873	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027897	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027899	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027901	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027902	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027903	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027906	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027922	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027970	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56778186	1.00[EUR][1000 genomes]
rs57272995	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57320842	1.00[EUR][1000 genomes]
rs57360299	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57518057	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57702773	1.00[EUR][1000 genomes]
rs57840658	1.00[EUR][1000 genomes]
rs58051386	1.00[EUR][1000 genomes]
rs58523998	1.00[EUR][1000 genomes]
rs58695205	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58718173	1.00[EUR][1000 genomes]
rs59234039	1.00[EUR][1000 genomes]
rs59718895	1.00[EUR][1000 genomes]
rs59969247	1.00[EUR][1000 genomes]
rs59973565	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60215951	1.00[EUR][1000 genomes]
rs60413056	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60600949	1.00[EUR][1000 genomes]
rs60935023	1.00[EUR][1000 genomes]
rs61165969	1.00[EUR][1000 genomes]
rs61271282	1.00[EUR][1000 genomes]

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	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1006848	chr2:63061816-63631407	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv535768	chr2:63413596-63631407	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv834241	chr2:63490262-63668205	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1002047	chr2:63584797-63648782	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv874234	chr2:63606001-63666590	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv874235	chr2:63622470-63709708	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63595200-63631200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr2:63597800-63649200	Weak transcription	Fetal Lung	lung
3	chr2:63598800-63631200	Weak transcription	Dnd41	blood
4	chr2:63599400-63631200	Weak transcription	Aorta	Aorta
5	chr2:63599400-63631600	Weak transcription	Pancreas	Pancrea
6	chr2:63599800-63631200	Weak transcription	Thymus	Thymus
7	chr2:63605000-63642400	Weak transcription	HSMMtube	muscle
8	chr2:63605600-63631200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:63605800-63631200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:63606000-63632800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:63607600-63631200	Weak transcription	Right Ventricle	heart
12	chr2:63615600-63631200	Weak transcription	Lung	lung
13	chr2:63615600-63637000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:63615800-63637000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:63621400-63637000	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:63621600-63633000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:63622200-63645400	Weak transcription	Liver	Liver
18	chr2:63622800-63635600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:63623000-63633000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:63623400-63632800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:63624400-63631200	Weak transcription	Ovary	ovary
22	chr2:63624800-63642400	Weak transcription	Left Ventricle	heart
23	chr2:63625200-63631200	Weak transcription	Primary T cells from cord blood	blood
24	chr2:63626800-63631200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:63626800-63631200	Weak transcription	Esophagus	oesophagus
26	chr2:63626800-63632600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:63626800-63636200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:63626800-63644000	Weak transcription	Gastric	stomach
29	chr2:63627000-63637600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:63627600-63636600	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:63628200-63635200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:63628200-63668200	Weak transcription	Fetal Kidney	kidney
33	chr2:63628600-63633400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr2:63628600-63651600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:63629600-63631200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr2:63629600-63644400	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr2:63629800-63635200	Weak transcription	Fetal Stomach	stomach
38	chr2:63629800-63637400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:63630000-63631200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr2:63630000-63631800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:63630000-63632600	Weak transcription	Fetal Intestine Large	intestine
42	chr2:63630200-63631200	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr2:63630200-63631600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:63630200-63632600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:63630200-63632600	Weak transcription	Brain Angular Gyrus	brain
46	chr2:63630400-63631200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr2:63630400-63631200	Weak transcription	Brain Anterior Caudate	brain
48	chr2:63630400-63631200	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr2:63630400-63631800	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr2:63630600-63631200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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