Variant report

Variant	rs57047150
Chromosome Location	chr2:183897483-183897484
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:183848253..183851068-chr2:183895481..183897989,2	K562	blood:
2	chr2:183895298..183904606-chr2:183986062..183992067,16	K562	blood:
3	chr2:183856353..183858960-chr2:183895348..183897886,2	K562	blood:
4	chr2:183891999..183897694-chr2:183897904..183904092,6	MCF-7	breast:
5	chr2:183897393..183900215-chr2:183986353..183991181,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163002	Chromatin interaction
ENSG00000061676	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11885629	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11885833	1.00[EUR][1000 genomes]
rs11888086	1.00[EUR][1000 genomes]
rs11892717	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11896088	1.00[EUR][1000 genomes]
rs16823829	1.00[EUR][1000 genomes]
rs16823945	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823948	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823949	1.00[EUR][1000 genomes]
rs16823966	1.00[EUR][1000 genomes]
rs16823968	0.97[AFR][1000 genomes]
rs2102770	0.97[AFR][1000 genomes]
rs4358084	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55803212	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55886059	1.00[EUR][1000 genomes]
rs56179717	1.00[EUR][1000 genomes]
rs56219690	0.85[AFR][1000 genomes]
rs56344408	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56362542	1.00[EUR][1000 genomes]
rs58515193	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59253255	1.00[AMR][1000 genomes]
rs59308931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60558126	1.00[EUR][1000 genomes]
rs60602756	1.00[EUR][1000 genomes]
rs60705462	0.88[AFR][1000 genomes]
rs6733333	1.00[EUR][1000 genomes]
rs6736252	1.00[EUR][1000 genomes]
rs6757286	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73035662	0.88[AFR][1000 genomes]
rs73037284	1.00[EUR][1000 genomes]
rs73040079	1.00[EUR][1000 genomes]
rs73040083	1.00[EUR][1000 genomes]
rs73040085	1.00[EUR][1000 genomes]
rs73040088	1.00[EUR][1000 genomes]
rs73042107	1.00[EUR][1000 genomes]
rs73042129	1.00[EUR][1000 genomes]
rs73042136	1.00[EUR][1000 genomes]
rs73042149	1.00[EUR][1000 genomes]
rs73042166	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046211	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046213	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046217	1.00[EUR][1000 genomes]
rs73046218	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046222	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046226	1.00[EUR][1000 genomes]
rs73046232	1.00[EUR][1000 genomes]
rs73046235	1.00[EUR][1000 genomes]
rs73046257	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046260	1.00[EUR][1000 genomes]
rs73048203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73980523	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73980527	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7558834	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7561870	1.00[EUR][1000 genomes]
rs7584932	1.00[EUR][1000 genomes]
rs7601416	1.00[EUR][1000 genomes]
rs7602182	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1003519	chr2:183885544-184015868	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183846000-183902000	Weak transcription	Lung	lung
2	chr2:183854000-183898800	Weak transcription	Fetal Brain Male	brain
3	chr2:183859600-183899400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:183875400-183899600	Weak transcription	HSMMtube	muscle
5	chr2:183878800-183902000	Weak transcription	Esophagus	oesophagus
6	chr2:183879200-183900200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:183879600-183897600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:183880200-183900800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr2:183881800-183897800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:183886600-183897600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr2:183886600-183898800	Weak transcription	Fetal Intestine Small	intestine
12	chr2:183886600-183899600	Weak transcription	NH-A	brain
13	chr2:183886600-183900600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:183886800-183900600	Weak transcription	Fetal Stomach	stomach
15	chr2:183887600-183899200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:183887800-183897600	Weak transcription	HSMM	muscle
17	chr2:183887800-183898600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:183887800-183899800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr2:183888600-183899000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:183888800-183899000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:183889800-183897600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:183889800-183897800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:183889800-183899600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:183889800-183900600	Weak transcription	Fetal Lung	lung
25	chr2:183889800-183902000	Weak transcription	Gastric	stomach
26	chr2:183890000-183897800	Weak transcription	Osteobl	bone
27	chr2:183891000-183899200	Weak transcription	NHLF	lung
28	chr2:183891200-183900600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:183891400-183899600	Weak transcription	Fetal Intestine Large	intestine
30	chr2:183891400-183901800	Weak transcription	Small Intestine	intestine
31	chr2:183893200-183897600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:183894000-183900000	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr2:183894000-183900200	Enhancers	Fetal Heart	heart
34	chr2:183894200-183899800	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr2:183894600-183899200	Weak transcription	Brain Anterior Caudate	brain
36	chr2:183894600-183902000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:183894600-183902000	Weak transcription	Pancreas	Pancrea
38	chr2:183895000-183897600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:183895000-183900600	Weak transcription	Fetal Muscle Leg	muscle
40	chr2:183895200-183897800	Weak transcription	Brain Angular Gyrus	brain
41	chr2:183895400-183897600	Weak transcription	Right Atrium	heart
42	chr2:183895400-183901200	Enhancers	Rectal Smooth Muscle	rectum
43	chr2:183895800-183898400	Enhancers	Colon Smooth Muscle	Colon
44	chr2:183896000-183898600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:183896000-183899200	Enhancers	Stomach Mucosa	stomach
46	chr2:183896200-183898000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr2:183896200-183898200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:183896200-183898200	Enhancers	Adipose Nuclei	Adipose
49	chr2:183896200-183898800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:183896200-183898800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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