Variant report

Variant	rs10180047
Chromosome Location	chr2:134174032-134174033
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:134168124..134170815-chr2:134171824..134174647,2	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10165601	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10171473	0.97[ASN][1000 genomes]
rs10175744	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10182656	0.86[ASN][1000 genomes]
rs10184630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10191826	0.87[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10193087	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10193730	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10196395	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10204436	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10204527	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10206474	0.97[ASN][1000 genomes]
rs10928451	0.85[YRI][hapmap];0.83[ASN][1000 genomes]
rs11890293	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11898252	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12327930	0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12328723	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12328976	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13392963	0.85[ASW][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.85[ASN][1000 genomes]
rs13396831	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.81[MKK][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13396930	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13400561	0.85[ASN][1000 genomes]
rs13400743	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs13406057	0.87[CEU][hapmap];0.88[CHB][hapmap];0.84[ASN][1000 genomes]
rs13406354	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13407205	0.87[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13407503	0.85[ASW][hapmap];0.87[CEU][hapmap];0.88[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.90[TSI][hapmap];0.84[ASN][1000 genomes]
rs13408835	0.90[ASN][1000 genomes]
rs13409478	0.93[CEU][hapmap]
rs13411233	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13412956	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13414823	0.93[CEU][hapmap]
rs13421761	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13426157	0.92[ASW][hapmap];0.88[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.90[TSI][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs13426681	0.88[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs13432602	0.93[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs1346776	0.92[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1369509	0.88[CHB][hapmap];0.93[CHD][hapmap];0.81[MKK][hapmap];0.85[TSI][hapmap];0.85[ASN][1000 genomes]
rs1369510	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1430165	0.93[CEU][hapmap];0.84[TSI][hapmap]
rs1430166	0.84[ASW][hapmap];0.93[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1430167	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1430168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1435554	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1435556	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes]
rs1435563	0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1435564	0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1435565	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1435566	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1561018	0.88[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.98[ASN][1000 genomes]
rs16824299	0.88[CHB][hapmap];0.93[CHD][hapmap];0.83[ASN][1000 genomes]
rs16824301	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs16824303	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs16824511	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16824573	1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17745593	0.88[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.90[TSI][hapmap];0.90[ASN][1000 genomes]
rs17745851	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17802295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.85[MKK][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1898008	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2115864	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2164326	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2289075	0.84[ASW][hapmap];0.88[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.90[TSI][hapmap];0.85[ASN][1000 genomes]
rs2304404	0.93[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28445548	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4588241	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs55788182	0.91[ASN][1000 genomes]
rs56410092	0.83[ASN][1000 genomes]
rs58489491	0.89[ASN][1000 genomes]
rs62177662	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62177669	0.90[ASN][1000 genomes]
rs62177672	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62180011	0.85[ASN][1000 genomes]
rs62180012	0.85[ASN][1000 genomes]
rs62180016	0.89[ASN][1000 genomes]
rs62180017	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7573164	0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9287426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9808392	0.93[CEU][hapmap]
rs990476	0.88[CHB][hapmap];1.00[JPT][hapmap];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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134158200-134174800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:134164800-134174200	Weak transcription	Fetal Stomach	stomach
3	chr2:134165400-134179200	Weak transcription	Esophagus	oesophagus
4	chr2:134168200-134174200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:134169800-134179000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:134170800-134178400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:134171200-134175600	Weak transcription	A549	lung
8	chr2:134171400-134183800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:134172200-134174200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:134172200-134178000	Weak transcription	Fetal Intestine Large	intestine
11	chr2:134172400-134175000	Enhancers	Brain Hippocampus Middle	brain
12	chr2:134172400-134175400	Enhancers	Fetal Muscle Leg	muscle
13	chr2:134172400-134177000	Enhancers	Fetal Lung	lung
14	chr2:134172600-134179000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:134172800-134174800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:134172800-134177800	Weak transcription	Fetal Intestine Small	intestine
17	chr2:134173000-134174800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:134173000-134176000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:134173200-134174800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr2:134173200-134179000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:134173200-134179200	Weak transcription	Left Ventricle	heart
22	chr2:134173200-134179200	Weak transcription	Right Atrium	heart
23	chr2:134173400-134175400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:134173400-134179000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:134173600-134174800	Weak transcription	NHDF-Ad	bronchial
26	chr2:134173600-134175000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:134173600-134176200	Enhancers	Fetal Brain Male	brain
28	chr2:134173600-134178400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:134173600-134178800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr2:134174000-134174200	Enhancers	Stomach Mucosa	stomach
31	chr2:134174000-134174600	Enhancers	Brain Anterior Caudate	brain
32	chr2:134174000-134175000	Enhancers	Brain Substantia Nigra	brain
33	chr2:134174000-134179000	Weak transcription	Brain Angular Gyrus	brain

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