Variant report

Variant	rs16987418
Chromosome Location	chr2:20350494-20350495
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20344027..20347003-chr2:20348055..20350773,2	MCF-7	breast:
2	chr2:20348708..20350605-chr2:20350801..20352836,2	MCF-7	breast:
3	chr2:20343488..20346809-chr2:20347899..20350701,3	MCF-7	breast:
4	chr2:20348330..20350992-chr2:20378144..20381464,4	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13005609	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34674974	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34929699	0.81[ASN][1000 genomes]
rs35720501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71435547	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009521	chr2:20310479-20388959	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1012841	chr2:20328894-20415168	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1012055	chr2:20336237-20356606	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1004083	chr2:20336237-20388138	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1000323	chr2:20336237-20419923	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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	15 gene(s)	inside rSNPs	diseases
6	nsv1004947	chr2:20342264-20388138	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1005923	chr2:20344028-20369781	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv581156	chr2:20346312-20356944	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv997958	chr2:20349343-20386339	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1005524	chr2:20349343-20388138	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20332200-20364400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:20345600-20356600	Weak transcription	Liver	Liver
3	chr2:20346000-20355600	Weak transcription	Esophagus	oesophagus
4	chr2:20346800-20352800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:20348000-20351200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:20348000-20351400	Enhancers	HSMM	muscle
7	chr2:20348200-20351200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:20348400-20351200	Enhancers	Fetal Lung	lung
9	chr2:20348400-20351400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:20348600-20351000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr2:20348600-20351200	Enhancers	Fetal Brain Female	brain
12	chr2:20348600-20351200	Enhancers	Fetal Muscle Leg	muscle
13	chr2:20348800-20351800	Enhancers	Fetal Brain Male	brain
14	chr2:20349000-20353000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:20349200-20351000	Enhancers	Stomach Mucosa	stomach
16	chr2:20349200-20351800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:20349400-20351200	Enhancers	NHDF-Ad	bronchial
18	chr2:20349400-20355400	Weak transcription	Fetal Intestine Small	intestine
19	chr2:20349600-20350600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:20349600-20350600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:20349600-20350800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:20349600-20350800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:20349600-20350800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:20349600-20350800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:20349600-20350800	Weak transcription	K562	blood
26	chr2:20349600-20351200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr2:20349600-20352000	Weak transcription	Brain Germinal Matrix	brain
28	chr2:20349600-20352400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:20349600-20352600	Weak transcription	NHEK	skin
30	chr2:20349600-20356600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:20349800-20350800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr2:20349800-20350800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:20349800-20350800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:20349800-20351000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:20349800-20351000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:20349800-20351000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:20349800-20351000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr2:20349800-20351000	Weak transcription	Lung	lung
39	chr2:20349800-20351000	Enhancers	Osteobl	bone
40	chr2:20349800-20351400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr2:20349800-20351400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:20349800-20351400	Enhancers	HSMMtube	muscle
43	chr2:20349800-20351600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:20349800-20352400	Weak transcription	Placenta	Placenta
45	chr2:20349800-20353200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:20349800-20353400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr2:20349800-20355200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr2:20349800-20355600	Weak transcription	Pancreas	Pancrea
49	chr2:20350000-20352600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:20350000-20352800	Weak transcription	HMEC	breast

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