Variant report

Variant	rs2290352
Chromosome Location	chr15:99688810-99688811
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	chr15:99688236..99691160-chr15:99691994..99693833,2	MCF-7	breast:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11247070	0.81[TSI][hapmap]
rs11247071	0.83[CHB][hapmap]
rs11247076	0.82[CHB][hapmap]
rs11247077	0.83[CHB][hapmap]
rs11247078	0.83[CHB][hapmap]
rs12439693	0.89[CHB][hapmap];0.84[CHD][hapmap]
rs12439819	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12439820	0.83[CHB][hapmap];0.81[TSI][hapmap]
rs12440477	0.83[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12440640	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12440982	0.83[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12441965	0.83[CHB][hapmap];0.81[TSI][hapmap]
rs12441996	0.83[CHB][hapmap];0.81[TSI][hapmap]
rs12442235	0.91[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.92[ASN][1000 genomes]
rs12593076	0.83[CHB][hapmap];0.81[TSI][hapmap]
rs12594123	0.85[CHB][hapmap]
rs12594250	0.83[CHB][hapmap]
rs12594607	0.83[CHB][hapmap]
rs12595099	0.83[CHB][hapmap]
rs12901547	0.83[CHB][hapmap]
rs12902590	0.83[CHB][hapmap]
rs12906323	0.88[CHB][hapmap]
rs12906924	0.83[CHB][hapmap]
rs12907938	0.83[CHB][hapmap]
rs12914665	0.83[CHB][hapmap];0.81[TSI][hapmap]
rs1612365	0.94[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs1670229	0.94[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs1876741	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2006670	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2048303	0.83[CHB][hapmap]
rs2089708	0.83[CHB][hapmap]
rs2623182	0.85[JPT][hapmap]
rs2861371	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3134586	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3134587	0.88[ASN][1000 genomes]
rs3134588	0.84[CHD][hapmap];0.95[JPT][hapmap]
rs3743242	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3759903	0.83[CHB][hapmap];0.81[TSI][hapmap]
rs3961782	0.83[CHB][hapmap]
rs4965215	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4965216	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4965446	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4965448	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4965451	0.82[ASW][hapmap];0.91[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58319155	0.83[ASN][1000 genomes]
rs58627039	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs58653169	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60513984	0.84[EUR][1000 genomes]
rs7163435	0.83[CHB][hapmap]
rs7169355	0.83[CHB][hapmap]
rs7170952	0.83[CHB][hapmap]
rs7178606	0.83[CHB][hapmap]
rs73480175	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73480191	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7496161	0.90[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531079	chr15:98907913-99878547	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv1039575	chr15:98982045-99924685	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv869529	chr15:99416774-99903351	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv533375	chr15:99443534-99696221	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1050982	chr15:99450004-99725825	Enhancers Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv530685	chr15:99452377-99713365	Bivalent/Poised TSS Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1055008	chr15:99477144-100019861	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	nsv1045124	chr15:99504843-99847210	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1038870	chr15:99510479-99768374	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv904543	chr15:99513231-99991506	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
11	nsv533926	chr15:99519820-99997114	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
12	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
13	nsv1051782	chr15:99621061-99792967	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
14	nsv916822	chr15:99621061-99878564	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv949203	chr15:99621061-99932797	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
16	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
17	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
18	nsv570716	chr15:99629901-99916332	Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:99665000-99714200	Weak transcription	NHEK	skin
2	chr15:99673200-99789400	Weak transcription	Small Intestine	intestine
3	chr15:99674400-99704200	Weak transcription	Fetal Kidney	kidney
4	chr15:99676200-99689000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr15:99676200-99691000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr15:99676200-99696200	Weak transcription	NH-A	brain
7	chr15:99676200-99703400	Weak transcription	GM12878-XiMat	blood
8	chr15:99676400-99690200	Weak transcription	HSMM	muscle
9	chr15:99676800-99694400	Weak transcription	HUVEC	blood vessel
10	chr15:99677600-99695200	Weak transcription	Hela-S3	cervix
11	chr15:99677800-99696200	Weak transcription	HMEC	breast
12	chr15:99678200-99689000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr15:99678200-99696400	Weak transcription	Placenta	Placenta
14	chr15:99678200-99708800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr15:99678400-99689200	Weak transcription	Right Ventricle	heart
16	chr15:99679400-99689600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr15:99679600-99689200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr15:99679800-99689000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr15:99679800-99689000	Weak transcription	Brain Anterior Caudate	brain
20	chr15:99679800-99689200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr15:99679800-99689200	Weak transcription	Spleen	Spleen
22	chr15:99679800-99689200	Weak transcription	A549	lung
23	chr15:99679800-99696200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr15:99679800-99696200	Weak transcription	Esophagus	oesophagus
25	chr15:99681800-99690200	Enhancers	Colon Smooth Muscle	Colon
26	chr15:99682600-99689200	Strong transcription	Fetal Muscle Trunk	muscle
27	chr15:99684200-99694400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr15:99684400-99689000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr15:99684400-99689800	Weak transcription	Pancreas	Pancrea
30	chr15:99684400-99691200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr15:99684400-99693600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr15:99684400-99694000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr15:99684400-99696200	Weak transcription	HepG2	liver
34	chr15:99684600-99689000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr15:99684600-99689200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:99684600-99689800	Weak transcription	NHLF	lung
37	chr15:99684600-99691000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr15:99684600-99694000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr15:99684600-99694400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr15:99684600-99694400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr15:99684600-99694600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr15:99684600-99695600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:99684600-99695800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr15:99684600-99695800	Weak transcription	Osteobl	bone
45	chr15:99684600-99698800	Weak transcription	Aorta	Aorta
46	chr15:99684600-99706600	Weak transcription	Right Atrium	heart
47	chr15:99684800-99709200	Weak transcription	Colonic Mucosa	Colon
48	chr15:99684800-99721600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr15:99685000-99693200	Weak transcription	Liver	Liver
50	chr15:99685000-99697800	Weak transcription	NHDF-Ad	bronchial

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