Variant report

Variant	rs12693504
Chromosome Location	chr2:189458025-189458026
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189457452..189459622-chr2:189465915..189469641,4	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1092261	0.90[EUR][1000 genomes]
rs11686702	0.82[EUR][1000 genomes]
rs13007902	0.83[EUR][1000 genomes]
rs1354902	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1395867	0.93[EUR][1000 genomes]
rs1395869	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1507562	0.93[EUR][1000 genomes]
rs1605460	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16830169	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2678360	0.84[EUR][1000 genomes]
rs2882532	0.82[EUR][1000 genomes]
rs2945414	0.84[EUR][1000 genomes]
rs3935690	0.82[EUR][1000 genomes]
rs4146571	0.82[EUR][1000 genomes]
rs6434291	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6434292	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs698570	0.83[EUR][1000 genomes]
rs698571	0.83[EUR][1000 genomes]
rs7425417	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7577912	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs781264	0.83[EUR][1000 genomes]
rs781283	0.82[CEU][hapmap]
rs781284	0.82[CEU][hapmap]
rs781286	0.82[CEU][hapmap]
rs781288	0.82[CEU][hapmap]
rs781454	0.90[EUR][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	nsv584055	chr2:189266823-189493686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv834489	chr2:189329027-189494224	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv533110	chr2:189354436-189462552	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189420600-189463200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:189431400-189463200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:189433600-189459400	Weak transcription	Psoas Muscle	Psoas
4	chr2:189434400-189463200	Weak transcription	Fetal Intestine Large	intestine
5	chr2:189434400-189465000	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:189436400-189463200	Weak transcription	Ovary	ovary
7	chr2:189443800-189464000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:189445800-189460200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr2:189445800-189463400	Weak transcription	NHLF	lung
10	chr2:189446200-189461000	Weak transcription	Adipose Nuclei	Adipose
11	chr2:189448600-189459800	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:189450200-189459400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:189450200-189463800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:189450400-189462000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:189450400-189463200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:189450400-189470600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:189450400-189475000	Weak transcription	Aorta	Aorta
18	chr2:189450600-189458400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:189450600-189459400	Weak transcription	Fetal Stomach	stomach
20	chr2:189450600-189459600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:189450600-189461400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:189450600-189463400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:189450600-189463400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:189450600-189463800	Weak transcription	Fetal Lung	lung
25	chr2:189450600-189464000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr2:189450600-189464000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:189450800-189460800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:189452800-189463200	Weak transcription	A549	lung
29	chr2:189453400-189460400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:189453600-189460400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:189453600-189463000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:189453600-189463400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:189455000-189461000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:189455200-189458600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:189455200-189460400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:189455200-189461800	Weak transcription	HUVEC	blood vessel
37	chr2:189455600-189463400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:189456200-189458600	Weak transcription	Placenta	Placenta

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