Variant report

Variant	rs12614465
Chromosome Location	chr2:153257617-153257618
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10184210	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10931075	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10931089	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11885624	0.84[YRI][hapmap]
rs11892662	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11898429	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];0.84[YRI][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12474369	0.80[CHB][hapmap];0.91[CHD][hapmap];0.82[GIH][hapmap];0.81[JPT][hapmap];0.91[MEX][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16831066	0.81[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes]
rs2346201	0.95[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2346202	0.92[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35547021	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3811575	0.91[GIH][hapmap];0.95[JPT][hapmap];0.82[TSI][hapmap]
rs3901192	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4371310	0.81[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes]
rs4664579	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs4664583	0.94[JPT][hapmap]
rs56322636	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57851180	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59348655	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6434028	0.91[GIH][hapmap];0.95[JPT][hapmap];0.82[TSI][hapmap]
rs6721741	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6724305	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6729611	0.82[AMR][1000 genomes]
rs6736856	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7602505	0.88[ASN][1000 genomes]
rs9677373	0.90[CHB][hapmap];0.98[CHD][hapmap];0.85[JPT][hapmap];0.87[MEX][hapmap];0.87[ASN][1000 genomes]
rs9678076	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9678127	0.83[EUR][1000 genomes];0.93[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	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1005012	chr2:153206764-153273886	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153238600-153258600	Weak transcription	Left Ventricle	heart
2	chr2:153246600-153266600	Enhancers	Brain Substantia Nigra	brain
3	chr2:153247000-153257800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:153247400-153277600	Weak transcription	Fetal Intestine Small	intestine
5	chr2:153247800-153258800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:153249600-153259000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:153250800-153258800	Weak transcription	Small Intestine	intestine
8	chr2:153252000-153269800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:153252400-153258000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:153253000-153258400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:153253000-153258800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:153253000-153260600	Enhancers	Brain Anterior Caudate	brain
13	chr2:153253200-153257800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:153253200-153258000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:153253200-153258600	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:153253200-153258800	Weak transcription	Right Atrium	heart
17	chr2:153253200-153259000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:153253200-153259600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:153253200-153260000	Weak transcription	Aorta	Aorta
20	chr2:153253200-153261600	Weak transcription	HSMM	muscle
21	chr2:153253200-153261600	Weak transcription	NH-A	brain
22	chr2:153253200-153261600	Weak transcription	NHLF	lung
23	chr2:153253200-153261800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr2:153253200-153262800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:153253200-153263200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr2:153253200-153263400	Enhancers	Brain Hippocampus Middle	brain
27	chr2:153253200-153263800	Weak transcription	Fetal Brain Female	brain
28	chr2:153253200-153266400	Enhancers	Brain Cingulate Gyrus	brain
29	chr2:153253400-153259000	Weak transcription	Adipose Nuclei	Adipose
30	chr2:153253600-153257800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:153253600-153258000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:153253600-153258600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:153253600-153258600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:153253600-153261800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr2:153253800-153258600	Weak transcription	Fetal Brain Male	brain
36	chr2:153253800-153258800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:153253800-153259000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:153253800-153259000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr2:153253800-153259600	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:153253800-153262400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:153254000-153259000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:153254000-153260000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:153254000-153263400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:153254200-153258800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:153255200-153257800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:153255200-153259000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:153255400-153258000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:153255400-153259200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:153255400-153259800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:153255400-153259800	Enhancers	NHEK	skin

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