Variant report

Variant	rs2526383
Chromosome Location	chr3:50184538-50184539
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:50164743..50166299-chr3:50183403..50185616,2	MCF-7	breast:
2	chr3:50180386..50182514-chr3:50184277..50186852,2	MCF-7	breast:
3	chr3:50182816..50185148-chr3:50300933..50303553,2	MCF-7	breast:
4	chr3:50177059..50182253-chr3:50182281..50187344,5	K562	blood:
5	chr3:50154064..50156374-chr3:50184030..50185702,2	MCF-7	breast:
6	chr3:50177059..50182253-chr3:50182281..50187344,7	K562	blood:
7	chr3:50172563..50177055-chr3:50182695..50185570,4	MCF-7	breast:
8	chr3:50160998..50164207-chr3:50182321..50186383,5	MCF-7	breast:
9	chr3:50179614..50181665-chr3:50184380..50186772,2	MCF-7	breast:
10	chr3:50157123..50160509-chr3:50182287..50185771,3	MCF-7	breast:
11	chr3:50171724..50175454-chr3:50183857..50186951,3	K562	blood:

No data

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11714286	0.99[ASN][1000 genomes]
rs2073726	0.81[JPT][hapmap]
rs2236939	0.92[CEU][hapmap]
rs2526392	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs2526393	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs2526394	1.00[CEU][hapmap]
rs2526395	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs2526396	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs2526400	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2624836	0.83[EUR][1000 genomes]
rs2624837	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2624840	0.82[EUR][1000 genomes]
rs2624842	0.85[CEU][hapmap]
rs3755831	0.80[ASN][1000 genomes]
rs3774745	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs3774749	0.83[ASN][1000 genomes]
rs3774750	0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs3774751	0.84[ASN][1000 genomes]
rs6446202	1.00[CEU][hapmap]
rs739431	0.85[CEU][hapmap]
rs7642692	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs9858059	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834690	chr3:50101835-50267584	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv515986	chr3:50104307-50267584	Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv432418	chr3:50114496-50224196	Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1001775	chr3:50129479-50311666	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv876768	chr3:50144951-50267584	Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
7	nsv1013949	chr3:50151712-50339163	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv590250	chr3:50153356-50332697	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	nsv876769	chr3:50155468-50408398	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
10	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
11	esv1793751	chr3:50157364-50476363	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
12	esv1828162	chr3:50157364-50506151	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
13	nsv590251	chr3:50158774-50337422	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
14	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
15	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
16	nsv523560	chr3:50172397-50339163	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
17	nsv460529	chr3:50178011-50324672	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
18	nsv460530	chr3:50178011-50324672	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
19	nsv590252	chr3:50178011-50324672	Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50177200-50191800	Weak transcription	Right Ventricle	heart
2	chr3:50177400-50185200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:50177600-50191000	Weak transcription	Lung	lung
4	chr3:50177800-50187200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:50178600-50187400	Weak transcription	Spleen	Spleen
6	chr3:50182400-50185800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:50182600-50186200	Enhancers	Fetal Thymus	thymus
8	chr3:50182800-50184800	Weak transcription	Fetal Muscle Leg	muscle
9	chr3:50182800-50185600	Enhancers	NHEK	skin
10	chr3:50182800-50186400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr3:50183000-50184800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:50183000-50187400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:50183600-50192000	Enhancers	Esophagus	oesophagus
14	chr3:50183800-50185000	Enhancers	HMEC	breast
15	chr3:50183800-50185200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:50183800-50185600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:50183800-50185600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:50183800-50189800	Enhancers	Fetal Stomach	stomach
19	chr3:50184000-50184600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:50184000-50184600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr3:50184000-50184600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:50184000-50184800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr3:50184000-50185000	Bivalent Enhancer	HepG2	liver
24	chr3:50184000-50187400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr3:50184000-50187600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:50184000-50187600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr3:50184200-50185000	Weak transcription	Fetal Kidney	kidney
28	chr3:50184200-50185200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr3:50184200-50187400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr3:50184400-50187600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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