Variant report

Variant	rs11073279
Chromosome Location	chr15:30105758-30105759
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:30094465..30098543-chr15:30102930..30106302,5	K562	blood:
2	chr15:30104918..30110272-chr15:30111258..30116596,7	MCF-7	breast:
3	chr15:30103514..30110154-chr15:30110674..30116017,8	MCF-7	breast:
4	chr15:30104335..30106670-chr15:30108797..30110344,3	MCF-7	breast:
5	chr15:30091067..30092760-chr15:30104276..30106583,2	K562	blood:

Variant related genes	Relation type
ENSG00000104067	Chromatin interaction
ENSG00000259523	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10852002	0.85[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11073221	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11073270	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17683205	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2293186	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28376883	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28831790	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3784355	1.00[JPT][hapmap]
rs9806607	0.89[YRI][hapmap]
rs9920553	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9920621	0.87[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9972620	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456736	chr15:29327352-30208654	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv568675	chr15:29327352-30208654	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers 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	31 gene(s)	inside rSNPs	diseases
3	nsv995038	chr15:29744279-30366124	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1038495	chr15:29825859-30351687	Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv542293	chr15:29825859-30351687	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS 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 miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv832945	chr15:29932599-30123721	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	esv2422463	chr15:30003189-30215336	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv903754	chr15:30023454-30382120	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	nsv903755	chr15:30036085-30351434	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	esv1851951	chr15:30043659-30178871	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	esv1845759	chr15:30097078-30142373	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30058600-30106000	Weak transcription	Gastric	stomach
2	chr15:30065600-30108200	Weak transcription	Pancreas	Pancrea
3	chr15:30082400-30113600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:30086000-30107600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:30091800-30108000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr15:30092600-30111400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr15:30093000-30107600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr15:30094600-30107600	Weak transcription	Left Ventricle	heart
9	chr15:30095200-30107000	Weak transcription	Fetal Intestine Small	intestine
10	chr15:30097800-30107600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:30098000-30106400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr15:30098000-30107600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr15:30098000-30111600	Weak transcription	Fetal Muscle Leg	muscle
14	chr15:30098000-30112400	Weak transcription	Fetal Stomach	stomach
15	chr15:30098200-30105800	Weak transcription	Right Atrium	heart
16	chr15:30098200-30107600	Weak transcription	Ovary	ovary
17	chr15:30098400-30111600	Weak transcription	HSMMtube	muscle
18	chr15:30099000-30106000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr15:30099000-30107600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr15:30100800-30108200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:30102400-30108600	Enhancers	Brain Anterior Caudate	brain
22	chr15:30102600-30106800	Enhancers	Brain Angular Gyrus	brain
23	chr15:30102600-30108800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr15:30102600-30108800	Enhancers	Brain Hippocampus Middle	brain
25	chr15:30102800-30106000	Enhancers	Placenta Amnion	Placenta Amnion
26	chr15:30102800-30106600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr15:30102800-30106800	Enhancers	Brain Cingulate Gyrus	brain
28	chr15:30102800-30108800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr15:30103000-30108200	Weak transcription	Aorta	Aorta
30	chr15:30103000-30108200	Weak transcription	Psoas Muscle	Psoas
31	chr15:30103000-30108400	Enhancers	Brain Substantia Nigra	brain
32	chr15:30103200-30106400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr15:30103200-30106800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr15:30103200-30107600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:30103400-30107200	Weak transcription	Adipose Nuclei	Adipose
36	chr15:30103600-30107000	Weak transcription	HepG2	liver
37	chr15:30103800-30106000	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr15:30103800-30106600	Enhancers	Colon Smooth Muscle	Colon
39	chr15:30103800-30106800	Enhancers	HMEC	breast
40	chr15:30103800-30109000	Enhancers	NHDF-Ad	bronchial
41	chr15:30104000-30105800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:30104000-30105800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr15:30104000-30106200	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr15:30104000-30106400	Enhancers	Osteobl	bone
45	chr15:30104000-30109000	Enhancers	Fetal Heart	heart
46	chr15:30104200-30105800	Enhancers	Rectal Smooth Muscle	rectum
47	chr15:30104200-30106000	Enhancers	Fetal Lung	lung
48	chr15:30104200-30106200	Enhancers	NH-A	brain
49	chr15:30104200-30106600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr15:30104200-30106600	Enhancers	NHEK	skin

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