Variant report

Variant	rs1561018
Chromosome Location	chr2:134180548-134180549
allele	C/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: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10165601	0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap];0.80[YRI][hapmap];0.89[ASN][1000 genomes]
rs10171473	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10175744	0.88[CHB][hapmap];0.93[TSI][hapmap];0.89[ASN][1000 genomes]
rs10180047	0.88[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.98[ASN][1000 genomes]
rs10182656	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10184630	0.88[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10191826	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10193087	0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10193730	0.98[ASN][1000 genomes]
rs10196395	0.98[ASN][1000 genomes]
rs10204436	0.98[ASN][1000 genomes]
rs10204527	0.98[ASN][1000 genomes]
rs10206474	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10928451	0.84[TSI][hapmap];0.85[ASN][1000 genomes]
rs11890293	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11898252	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12327930	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12328723	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12328976	0.88[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs13392963	0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.86[ASN][1000 genomes]
rs13396831	0.88[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs13396930	0.92[ASN][1000 genomes]
rs13400561	0.83[ASN][1000 genomes]
rs13400743	0.83[ASN][1000 genomes]
rs13406057	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13406354	0.88[CHB][hapmap];0.93[TSI][hapmap];0.84[ASN][1000 genomes]
rs13407205	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13407503	0.88[CEU][hapmap];1.00[CHB][hapmap];0.82[MEX][hapmap];0.97[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13408835	1.00[CEU][hapmap];0.89[CHB][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13411233	0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];0.88[ASN][1000 genomes]
rs13412956	0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs13421761	0.97[ASN][1000 genomes]
rs13426157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13426681	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13432602	0.84[TSI][hapmap]
rs1346776	1.00[JPT][hapmap];0.87[TSI][hapmap];0.82[ASN][1000 genomes]
rs1369509	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1369510	0.88[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.97[ASN][1000 genomes]
rs1430165	0.84[TSI][hapmap]
rs1430166	1.00[JPT][hapmap];0.90[TSI][hapmap];0.85[ASN][1000 genomes]
rs1430167	0.91[ASN][1000 genomes]
rs1430168	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1435554	0.88[ASN][1000 genomes]
rs1435556	0.88[CHB][hapmap]
rs1435563	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1435564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1435565	0.88[CHB][hapmap];0.94[ASN][1000 genomes]
rs1435566	0.88[CHB][hapmap];0.89[MKK][hapmap];0.93[TSI][hapmap];0.91[ASN][1000 genomes]
rs16824299	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs16824301	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16824303	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16824511	0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs16824573	0.94[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17745593	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[MEX][hapmap];0.83[MKK][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17745851	0.97[ASN][1000 genomes]
rs17802295	0.88[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.95[ASN][1000 genomes]
rs1898008	0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2115864	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2164326	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2289075	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2304404	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs28445548	0.85[ASN][1000 genomes]
rs35892150	0.93[EUR][1000 genomes]
rs4588241	0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs55788182	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56410092	0.85[ASN][1000 genomes]
rs58029642	0.85[EUR][1000 genomes]
rs58489491	0.88[ASN][1000 genomes]
rs62177662	0.88[ASN][1000 genomes]
rs62177669	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62177672	0.97[ASN][1000 genomes]
rs62180011	0.83[ASN][1000 genomes]
rs62180012	0.83[ASN][1000 genomes]
rs62180016	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62180017	0.88[ASN][1000 genomes]
rs7573164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9287426	0.88[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];0.90[TSI][hapmap];0.95[ASN][1000 genomes]
rs990476	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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:52 , 50 per page) page: 1 2

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	chr2:134177800-134181400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:134178200-134180600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:134178200-134181200	Enhancers	NHEK	skin
7	chr2:134178200-134185200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:134178400-134181000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:134178400-134181000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:134178400-134181000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:134178400-134183200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:134178600-134180800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:134178600-134181000	Enhancers	Fetal Brain Female	brain
14	chr2:134178600-134183600	Enhancers	Brain Substantia Nigra	brain
15	chr2:134178800-134180800	Enhancers	Brain Cingulate Gyrus	brain
16	chr2:134178800-134180800	Enhancers	Fetal Heart	heart
17	chr2:134178800-134181000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr2:134178800-134181000	Enhancers	Brain Hippocampus Middle	brain
19	chr2:134178800-134181000	Enhancers	Fetal Brain Male	brain
20	chr2:134178800-134183600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr2:134179000-134180800	Enhancers	Stomach Mucosa	stomach
22	chr2:134179000-134181000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:134179000-134181000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:134179000-134181000	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr2:134179000-134181000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:134179000-134181200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:134179000-134181200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:134179000-134181400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:134179000-134183200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:134179200-134181000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:134179200-134181000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:134179200-134181000	Enhancers	H9 Cell Line	embryonic stem cell
33	chr2:134179200-134181000	Enhancers	Brain Anterior Caudate	brain
34	chr2:134179200-134181000	Enhancers	Brain Germinal Matrix	brain
35	chr2:134179200-134181200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:134179200-134181400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr2:134179400-134180600	Weak transcription	Brain Angular Gyrus	brain
38	chr2:134179600-134181600	Enhancers	Fetal Lung	lung
39	chr2:134179800-134180800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr2:134179800-134180800	Weak transcription	Fetal Kidney	kidney
41	chr2:134179800-134181400	Enhancers	A549	lung
42	chr2:134179800-134182200	Weak transcription	NH-A	brain
43	chr2:134180000-134180600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr2:134180000-134182000	Weak transcription	Pancreas	Pancrea
45	chr2:134180200-134181000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr2:134180400-134180600	Flanking Active TSS	Hela-S3	cervix
47	chr2:134180400-134180800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:134180400-134180800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:134180400-134181000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr2:134180400-134181000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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