Variant report

Variant	rs2254867
Chromosome Location	chr2:183991048-183991049
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:183775532..183777640-chr2:183990491..183993127,2	K562	blood:
2	chr2:183977949..183985615-chr2:183986503..183991971,13	K562	blood:
3	chr2:183895298..183904606-chr2:183986062..183992067,16	K562	blood:
4	chr2:183897885..183903273-chr2:183986817..183992325,13	K562	blood:
5	chr2:183989126..183990874-chr2:183990952..183992681,2	MCF-7	breast:
6	chr2:183990685..183993122-chr2:184003291..184005876,2	K562	blood:
7	chr2:183836718..183838459-chr2:183989290..183991920,2	K562	blood:
8	chr2:183954410..183956747-chr2:183990297..183991914,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163002	Chromatin interaction
ENSG00000061676	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10166767	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10931063	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10931066	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11684034	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893450	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1462535	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1462536	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16824143	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1882441	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1882443	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1980160	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2176227	0.80[AMR][1000 genomes]
rs2176231	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2248705	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254877	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2459336	0.80[AMR][1000 genomes]
rs2675044	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2675064	0.80[AMR][1000 genomes]
rs2675066	0.80[AMR][1000 genomes]
rs2675070	0.80[AMR][1000 genomes]
rs2675080	0.84[AMR][1000 genomes]
rs2675081	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675085	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675096	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2675097	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2675099	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2675100	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675103	0.80[AMR][1000 genomes]
rs2705711	0.80[AMR][1000 genomes]
rs2705717	0.80[AMR][1000 genomes]
rs2705722	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2705723	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705724	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2705725	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705726	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705728	0.80[AMR][1000 genomes]
rs2705731	0.80[AMR][1000 genomes]
rs2705738	0.80[AMR][1000 genomes]
rs2705759	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2705761	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705762	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2705764	0.80[AMR][1000 genomes]
rs2887233	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2952359	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34446915	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4441423	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4474850	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4666613	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4666615	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666616	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666617	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4666618	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666619	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4666893	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4666895	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57951311	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58281223	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58953222	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59640908	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60745950	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60932045	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6434006	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6434012	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434014	0.88[EUR][1000 genomes]
rs6434018	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434020	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6735968	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737988	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6751275	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72890368	0.84[AMR][1000 genomes]
rs72896587	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72896589	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72896592	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72896594	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72898506	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72898520	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72898559	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7355427	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7420841	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585172	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7585433	0.90[EUR][1000 genomes]
rs7588899	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	esv2763287	chr2:183939173-184037893	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183988400-183991200	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr2:183988400-183991200	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr2:183988400-183991600	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr2:183988800-183991200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr2:183988800-183991600	Active TSS	K562	blood
6	chr2:183990000-183996200	Weak transcription	Lung	lung
7	chr2:183990000-184003600	Weak transcription	Left Ventricle	heart
8	chr2:183990000-184008600	Weak transcription	Esophagus	oesophagus
9	chr2:183990000-184008800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:183990000-184024400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:183990000-184050000	Weak transcription	Aorta	Aorta
12	chr2:183990200-183991200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:183990200-183991200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:183990200-183991200	Enhancers	Fetal Brain Male	brain
15	chr2:183990200-183991400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr2:183990200-183991400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr2:183990200-183991600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:183990200-183993600	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr2:183990200-183995000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:183990200-184008200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:183990200-184014200	Weak transcription	HSMMtube	muscle
22	chr2:183990200-184018800	Weak transcription	Placenta	Placenta
23	chr2:183990200-184036400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:183990400-183991200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:183990400-183991200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr2:183990400-183991200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr2:183990400-183991200	Flanking Active TSS	Fetal Intestine Large	intestine
28	chr2:183990400-183991200	Enhancers	Small Intestine	intestine
29	chr2:183990400-183991200	Flanking Active TSS	Hela-S3	cervix
30	chr2:183990400-183991200	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr2:183990400-183991400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr2:183990400-183991400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:183990400-183991400	Flanking Active TSS	HMEC	breast
34	chr2:183990400-183991600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr2:183990400-183991600	Flanking Active TSS	HepG2	liver
36	chr2:183990400-183991800	Flanking Active TSS	A549	lung
37	chr2:183990400-183991800	Flanking Active TSS	Dnd41	blood
38	chr2:183990600-183991200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:183990600-183991200	Enhancers	Primary T cells fromperipheralblood	blood
40	chr2:183990600-183991200	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr2:183990600-183991200	Enhancers	Fetal Stomach	stomach
42	chr2:183990600-183991200	Enhancers	Pancreas	Pancrea
43	chr2:183990600-183991200	Flanking Active TSS	GM12878-XiMat	blood
44	chr2:183990600-183991200	Enhancers	Osteobl	bone
45	chr2:183990600-183992600	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr2:183990600-183994400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr2:183990600-183995400	Weak transcription	Colon Smooth Muscle	Colon
48	chr2:183990600-183995600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr2:183990600-183995800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr2:183990600-184010200	Weak transcription	Brain Substantia Nigra	brain

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