Variant report

Variant	rs12618660
Chromosome Location	chr2:179202167-179202168
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179192053..179195565-chr2:179199855..179202518,3	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10182749	0.90[EUR][1000 genomes]
rs10497513	0.86[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs10497514	0.87[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs10930829	0.87[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs12151447	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs12464536	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12467053	0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12471790	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12474802	1.00[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12474844	1.00[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12474919	0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12478760	0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12479027	0.81[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs12479281	0.93[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12618595	0.81[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs12620577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12620729	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13386703	0.90[EUR][1000 genomes]
rs13400415	1.00[CEU][hapmap];0.83[CHB][hapmap];0.90[EUR][1000 genomes]
rs13404410	0.90[EUR][1000 genomes]
rs1368905	0.83[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs1434082	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1434083	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1434084	0.90[JPT][hapmap]
rs1434086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1434089	0.87[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs16866202	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs16866226	0.90[EUR][1000 genomes]
rs16866231	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[EUR][1000 genomes]
rs16866247	0.90[EUR][1000 genomes]
rs16866256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16866271	1.00[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16866273	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16866275	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16866281	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16866299	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap]
rs1812550	0.86[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs1836203	0.87[ASN][1000 genomes]
rs1982104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3813252	1.00[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813253	0.81[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs4422196	0.87[ASN][1000 genomes]
rs4894011	0.85[ASN][1000 genomes]
rs4894014	0.87[ASN][1000 genomes]
rs55682490	0.90[EUR][1000 genomes]
rs55707762	0.90[EUR][1000 genomes]
rs55719869	0.90[EUR][1000 genomes]
rs55989867	0.86[ASN][1000 genomes]
rs55992481	0.90[EUR][1000 genomes]
rs56002997	0.90[EUR][1000 genomes]
rs56148541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56366027	0.87[ASN][1000 genomes]
rs58505502	0.90[EUR][1000 genomes]
rs6433722	0.86[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs6754517	0.87[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs6761421	0.87[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs718650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs718651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7559699	0.87[ASN][1000 genomes]
rs7559711	0.87[ASN][1000 genomes]
rs7572355	0.85[ASN][1000 genomes]
rs7576995	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[EUR][1000 genomes]
rs964165	0.87[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]

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	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv834466	chr2:179140792-179284778	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 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	chr2:179183800-179247800	Weak transcription	Psoas Muscle	Psoas
2	chr2:179189800-179217000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:179193000-179214600	Weak transcription	Fetal Intestine Large	intestine
4	chr2:179193200-179210400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:179193200-179216200	Weak transcription	Adipose Nuclei	Adipose
6	chr2:179193400-179203400	Weak transcription	Fetal Intestine Small	intestine
7	chr2:179193400-179204800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:179193400-179215000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:179194600-179229400	Weak transcription	K562	blood
10	chr2:179195400-179214600	Weak transcription	Left Ventricle	heart
11	chr2:179195400-179229000	Weak transcription	Brain Substantia Nigra	brain
12	chr2:179195600-179214200	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:179195600-179214800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:179196200-179207000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:179196600-179204600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:179196600-179213600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:179197000-179209000	Weak transcription	Esophagus	oesophagus
18	chr2:179197800-179204200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:179198400-179227400	Weak transcription	NHEK	skin
20	chr2:179199000-179241200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:179199200-179207400	Weak transcription	Pancreas	Pancrea
22	chr2:179199200-179214400	Weak transcription	Lung	lung
23	chr2:179199200-179214600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:179199600-179240400	Weak transcription	Fetal Stomach	stomach
25	chr2:179200000-179202600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:179200000-179205600	Strong transcription	HMEC	breast
27	chr2:179200600-179202400	Strong transcription	Liver	Liver
28	chr2:179200600-179203600	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:179200600-179207600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:179201000-179202400	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:179201000-179202400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:179201000-179202400	Strong transcription	Brain Anterior Caudate	brain
33	chr2:179201000-179202600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:179201200-179202400	Strong transcription	Fetal Brain Male	brain
35	chr2:179201200-179202400	Strong transcription	Ovary	ovary
36	chr2:179201200-179202600	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:179201400-179202400	Strong transcription	NH-A	brain
38	chr2:179201600-179202400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:179201600-179203200	Weak transcription	Gastric	stomach
40	chr2:179201600-179218400	Weak transcription	Fetal Muscle Leg	muscle
41	chr2:179201800-179206400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:179201800-179214000	Weak transcription	Fetal Brain Female	brain
43	chr2:179201800-179214200	Weak transcription	Brain Angular Gyrus	brain
44	chr2:179201800-179214400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:179201800-179214800	Weak transcription	Brain Germinal Matrix	brain
46	chr2:179201800-179216000	Weak transcription	Right Ventricle	heart
47	chr2:179201800-179216800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:179201800-179217000	Weak transcription	Aorta	Aorta
49	chr2:179201800-179240000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr2:179201800-179240400	Weak transcription	Fetal Muscle Trunk	muscle

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