Variant report

Variant	rs342118
Chromosome Location	chr2:20666199-20666200
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20665733..20672605-chr2:20815236..20823686,12	MCF-7	breast:
2	chr2:20664615..20666200-chr2:20700420..20703314,2	MCF-7	breast:
3	chr2:20665945..20667878-chr2:20818560..20821196,2	MCF-7	breast:
4	chr2:20664203..20670367-chr2:20692234..20698325,8	MCF-7	breast:
5	chr2:20664607..20668124-chr2:20695979..20697916,4	MCF-7	breast:
6	chr2:20664924..20667934-chr2:20777556..20780555,3	MCF-7	breast:
7	chr2:20642734..20659399-chr2:20663729..20679011,83	MCF-7	breast:
8	chr2:20665586..20667484-chr2:20827548..20829987,2	MCF-7	breast:
9	chr2:20643286..20659825-chr2:20662702..20680153,143	MCF-7	breast:
10	chr2:20664677..20667421-chr2:20834049..20837198,4	MCF-7	breast:
11	chr2:11681425..11683058-chr2:20665986..20668098,2	MCF-7	breast:
12	chr2:20664006..20666925-chr2:20834002..20835809,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143878	Chromatin interaction
ENSG00000196208	Chromatin interaction
ENSG00000228950	Chromatin interaction
ENSG00000227047	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1002162	0.84[CEU][hapmap];0.82[GIH][hapmap];0.85[TSI][hapmap]
rs10205221	0.88[CEU][hapmap];0.82[CHB][hapmap]
rs11898154	0.81[CEU][hapmap]
rs12988451	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs13021908	0.81[CEU][hapmap]
rs1453051	0.84[CEU][hapmap];0.82[GIH][hapmap];0.85[TSI][hapmap]
rs168195	0.82[CEU][hapmap]
rs342057	0.84[CEU][hapmap]
rs342105	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs342107	0.87[ASW][hapmap];0.88[CEU][hapmap];0.82[GIH][hapmap];0.93[TSI][hapmap]
rs342108	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs342109	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs342110	0.84[CEU][hapmap]
rs342113	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs342114	0.87[ASW][hapmap];0.88[CEU][hapmap];0.85[GIH][hapmap];0.81[MEX][hapmap];0.93[TSI][hapmap]
rs342116	0.88[CEU][hapmap];0.85[GIH][hapmap];0.93[TSI][hapmap]
rs342117	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs342119	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs342122	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs342123	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs342124	0.91[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs342125	0.87[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs342126	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs4666308	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs4666401	0.81[CEU][hapmap]
rs4666402	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs6531240	0.84[CEU][hapmap];0.85[GIH][hapmap];0.85[TSI][hapmap]
rs6704834	0.82[CEU][hapmap]
rs674534	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs715670	0.88[CEU][hapmap];0.82[CHB][hapmap]
rs959058	0.88[CEU][hapmap];0.82[CHB][hapmap]
rs9917322	0.88[CEU][hapmap];1.00[CHB][hapmap]

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	nsv873717	chr2:20625174-20756900	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv873718	chr2:20627875-20752152	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv873719	chr2:20628882-20756900	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv873720	chr2:20645835-20756900	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers 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 target site	88 gene(s)	inside rSNPs	diseases
6	nsv873721	chr2:20645835-20759789	Enhancers Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv873722	chr2:20652507-20705910	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	esv3426278	chr2:20665696-20668244	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv3427334	chr2:20665921-20668019	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	esv2438580	chr2:20666061-20667756	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20653200-20666200	Weak transcription	Brain Anterior Caudate	brain
2	chr2:20653400-20666400	Weak transcription	Brain Substantia Nigra	brain
3	chr2:20653400-20674000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:20656200-20671800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:20660800-20667200	Weak transcription	Lung	lung
6	chr2:20664400-20672400	Weak transcription	Right Atrium	heart
7	chr2:20665200-20666400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:20665400-20666400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:20665400-20666400	Enhancers	Esophagus	oesophagus
10	chr2:20665400-20667600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:20665400-20667600	Enhancers	Fetal Muscle Leg	muscle
12	chr2:20665400-20667600	Enhancers	Pancreas	Pancrea
13	chr2:20665400-20668200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:20665400-20668200	Enhancers	Brain Germinal Matrix	brain
15	chr2:20665400-20668600	Enhancers	Placenta	Placenta
16	chr2:20665400-20669600	Enhancers	Gastric	stomach
17	chr2:20665400-20669800	Enhancers	Stomach Mucosa	stomach
18	chr2:20665400-20670400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:20665600-20666200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr2:20665600-20666400	Enhancers	Duodenum Mucosa	Duodenum
21	chr2:20665600-20666600	Enhancers	Colonic Mucosa	Colon
22	chr2:20665600-20667200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr2:20665600-20667200	Enhancers	NHEK	skin
24	chr2:20665600-20667600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:20665600-20667600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr2:20665600-20667600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr2:20665600-20667600	Enhancers	Hela-S3	cervix
28	chr2:20665600-20667800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:20665600-20667800	Enhancers	Adipose Nuclei	Adipose
30	chr2:20665800-20666400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:20665800-20666400	Enhancers	Colon Smooth Muscle	Colon
32	chr2:20665800-20666600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:20665800-20666600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:20665800-20666600	Enhancers	Spleen	Spleen
35	chr2:20665800-20667000	Weak transcription	Brain Hippocampus Middle	brain
36	chr2:20665800-20667400	Enhancers	Stomach Smooth Muscle	stomach
37	chr2:20665800-20667800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:20665800-20667800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:20665800-20667800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr2:20666000-20666600	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr2:20666000-20666600	Enhancers	Fetal Brain Male	brain
42	chr2:20666000-20666800	Bivalent Enhancer	HepG2	liver
43	chr2:20666000-20667200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr2:20666000-20667200	Enhancers	Fetal Brain Female	brain
45	chr2:20666000-20667400	Enhancers	HMEC	breast
46	chr2:20666000-20667600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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