Variant report

Variant	rs12327930
Chromosome Location	chr2:134168015-134168016
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10165601	0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10171473	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10175744	0.89[CHB][hapmap];0.91[ASN][1000 genomes]
rs10180047	0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10182656	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10184630	0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10191826	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10193087	0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10193730	0.97[ASN][1000 genomes]
rs10196395	0.97[ASN][1000 genomes]
rs10204436	0.97[ASN][1000 genomes]
rs10204527	0.97[ASN][1000 genomes]
rs10206474	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10928451	0.86[ASN][1000 genomes]
rs11890293	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11898252	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12328723	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12328976	0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs13392963	0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13396831	0.88[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs13396930	0.94[ASN][1000 genomes]
rs13400561	0.82[ASN][1000 genomes]
rs13400743	0.82[ASN][1000 genomes]
rs13406057	1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13406354	0.88[CHB][hapmap];0.85[ASN][1000 genomes]
rs13407205	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13407503	1.00[CHB][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13408835	0.90[CHB][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13411233	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs13412956	0.89[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs13421761	0.98[ASN][1000 genomes]
rs13426157	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13426681	0.80[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1346776	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1369509	1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1369510	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1430166	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1430167	0.89[ASN][1000 genomes]
rs1430168	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1435554	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1435556	0.89[CHB][hapmap]
rs1435563	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1435564	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1435565	0.89[CHB][hapmap];0.95[ASN][1000 genomes]
rs1435566	0.88[CHB][hapmap];0.92[ASN][1000 genomes]
rs1561018	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16824299	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs16824301	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16824303	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16824511	0.89[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16824573	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17745593	1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17745851	0.98[ASN][1000 genomes]
rs17802295	0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1898008	0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2115864	0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2164326	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2289075	1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2304404	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs28445548	0.86[ASN][1000 genomes]
rs35892150	0.85[EUR][1000 genomes]
rs4588241	0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs55788182	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56410092	0.86[ASN][1000 genomes]
rs58489491	0.89[ASN][1000 genomes]
rs62177662	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs62177669	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62177672	0.98[ASN][1000 genomes]
rs62180011	0.85[ASN][1000 genomes]
rs62180012	0.85[ASN][1000 genomes]
rs62180016	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62180017	0.89[ASN][1000 genomes]
rs7573164	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9287426	0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs990476	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][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	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1002488	chr2:133890159-134275312	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv535928	chr2:133890159-134275312	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv3375790	chr2:133906915-134222833	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv834384	chr2:134005229-134188648	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv522324	chr2:134085665-134174032	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134156800-134170600	Weak transcription	Lung	lung
2	chr2:134157000-134172800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:134158200-134174800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:134163600-134172200	Weak transcription	Fetal Intestine Small	intestine
5	chr2:134164200-134168200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr2:134164600-134169400	Weak transcription	A549	lung
7	chr2:134164800-134174200	Weak transcription	Fetal Stomach	stomach
8	chr2:134165000-134172400	Weak transcription	Brain Anterior Caudate	brain
9	chr2:134165200-134169000	Weak transcription	Brain Substantia Nigra	brain
10	chr2:134165200-134170000	Weak transcription	Osteobl	bone
11	chr2:134165200-134170600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:134165200-134172400	Weak transcription	Fetal Lung	lung
13	chr2:134165200-134172400	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:134165400-134179200	Weak transcription	Esophagus	oesophagus
15	chr2:134166400-134169600	Enhancers	NHDF-Ad	bronchial
16	chr2:134166600-134168600	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:134166600-134168800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:134166600-134170800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:134167600-134171400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:134167800-134170600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:134167800-134172800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr2:134168000-134168400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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