Variant report

Variant	rs2164326
Chromosome Location	chr2:134181472-134181473
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	chr2:134179232..134182620-chr2:134183188..134186859,3	MCF-7	breast:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10165601	0.82[ASN][1000 genomes]
rs10171473	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10175744	0.82[ASN][1000 genomes]
rs10180047	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10182656	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10184630	0.88[ASN][1000 genomes]
rs10193087	0.87[ASN][1000 genomes]
rs10193730	0.91[ASN][1000 genomes]
rs10196395	0.91[ASN][1000 genomes]
rs10204436	0.91[ASN][1000 genomes]
rs10204527	0.91[ASN][1000 genomes]
rs10206474	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11890293	0.80[ASN][1000 genomes]
rs11898252	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12327930	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12328723	0.80[ASN][1000 genomes]
rs12328976	0.82[ASN][1000 genomes]
rs13396831	0.89[ASN][1000 genomes]
rs13396930	0.94[ASN][1000 genomes]
rs13406057	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13407205	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13407503	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13408835	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13411233	0.80[ASN][1000 genomes]
rs13412956	0.89[ASN][1000 genomes]
rs13421761	0.89[ASN][1000 genomes]
rs13426157	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13426681	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1369509	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1369510	0.89[ASN][1000 genomes]
rs1430167	0.83[ASN][1000 genomes]
rs1430168	0.83[ASN][1000 genomes]
rs1435554	0.80[ASN][1000 genomes]
rs1435563	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1435564	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1435565	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1435566	0.83[ASN][1000 genomes]
rs1561018	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16824299	0.86[ASN][1000 genomes]
rs16824301	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16824303	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16824511	0.89[ASN][1000 genomes]
rs16824573	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17745593	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17745851	0.89[ASN][1000 genomes]
rs17802295	0.87[ASN][1000 genomes]
rs1898008	0.87[ASN][1000 genomes]
rs2289075	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2304404	0.80[ASN][1000 genomes]
rs35892150	0.82[EUR][1000 genomes]
rs55788182	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58489491	0.80[ASN][1000 genomes]
rs62177662	0.80[ASN][1000 genomes]
rs62177669	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62177672	0.89[ASN][1000 genomes]
rs62180016	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62180017	0.80[ASN][1000 genomes]
rs7573164	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9287426	0.87[ASN][1000 genomes]
rs990476	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134171400-134183800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:134174200-134182800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:134175200-134182800	Weak transcription	NHDF-Ad	bronchial
4	chr2:134178200-134185200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr2:134178400-134183200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:134178600-134183600	Enhancers	Brain Substantia Nigra	brain
7	chr2:134178800-134183600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:134179000-134183200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:134179600-134181600	Enhancers	Fetal Lung	lung
10	chr2:134179800-134182200	Weak transcription	NH-A	brain
11	chr2:134180000-134182000	Weak transcription	Pancreas	Pancrea
12	chr2:134180800-134182200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:134180800-134182400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:134180800-134182600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:134181000-134182200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:134181000-134182200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:134181000-134182200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:134181000-134182400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:134181000-134182400	Weak transcription	Brain Anterior Caudate	brain
20	chr2:134181000-134182600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:134181000-134182600	Weak transcription	Brain Germinal Matrix	brain
22	chr2:134181000-134182600	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:134181000-134182800	Weak transcription	Fetal Kidney	kidney
24	chr2:134181000-134183200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:134181000-134183600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr2:134181000-134186800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:134181000-134188200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:134181000-134188200	Weak transcription	HMEC	breast
29	chr2:134181000-134188800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr2:134181200-134181800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:134181200-134182200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:134181200-134182200	Weak transcription	Osteobl	bone
33	chr2:134181200-134182400	Weak transcription	NHEK	skin
34	chr2:134181200-134182600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:134181400-134182200	Weak transcription	A549	lung
36	chr2:134181400-134182600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr2:134181400-134182600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:134181400-134182800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:134181400-134184600	Weak transcription	Hela-S3	cervix
40	chr2:134181400-134191000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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