Variant report

Variant	rs10182131
Chromosome Location	chr2:55903267-55903268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55901517..55904388-chr2:55919135..55920931,2	K562	blood:
2	chr2:55900455..55903347-chr2:55904036..55907328,3	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10172181	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10172506	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10173150	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10194634	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10195281	0.83[AMR][1000 genomes]
rs10200159	0.89[AMR][1000 genomes]
rs10203953	0.83[AMR][1000 genomes]
rs10204169	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1045920	0.89[AMR][1000 genomes]
rs10496044	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11902712	0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12615063	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12616982	0.94[AMR][1000 genomes]
rs12622830	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12623625	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13382187	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13383352	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13399762	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13400946	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13407344	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13420929	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13428382	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13428486	0.89[AMR][1000 genomes]
rs13430684	0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17047094	0.83[AMR][1000 genomes]
rs17047119	0.89[AMR][1000 genomes]
rs2867964	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3748955	0.83[AMR][1000 genomes]
rs6545510	0.83[AMR][1000 genomes]
rs6545512	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6545513	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6705295	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6712314	0.89[AMR][1000 genomes]
rs6725101	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6736996	0.83[AMR][1000 genomes]
rs6739788	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6760959	0.83[AMR][1000 genomes]
rs7558127	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7567115	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7575906	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7582174	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7586115	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7586124	0.89[AMR][1000 genomes]
rs7586366	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594212	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7594497	0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9309267	0.88[AMR][1000 genomes]
rs9309268	0.88[AMR][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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv834080	chr2:55741036-55927928	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv2757798	chr2:55747239-55981074	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv2759050	chr2:55747239-55981074	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1008452	chr2:55809191-55987274	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	esv2762645	chr2:55892248-55963418	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv2760573	chr2:55903016-55941440	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55846800-55919800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:55847400-55911000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:55858200-55920400	Weak transcription	Fetal Heart	heart
4	chr2:55860400-55905400	Weak transcription	Fetal Brain Male	brain
5	chr2:55864400-55919600	Weak transcription	NHLF	lung
6	chr2:55866600-55920000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:55870400-55920000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:55870600-55920000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:55870800-55903600	Weak transcription	Gastric	stomach
10	chr2:55870800-55909000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:55870800-55920400	Weak transcription	Aorta	Aorta
12	chr2:55871000-55920000	Weak transcription	Spleen	Spleen
13	chr2:55871200-55905200	Weak transcription	Brain Angular Gyrus	brain
14	chr2:55871400-55905200	Weak transcription	Fetal Kidney	kidney
15	chr2:55873200-55919800	Weak transcription	Small Intestine	intestine
16	chr2:55874800-55920200	Weak transcription	Pancreas	Pancrea
17	chr2:55879000-55917600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:55879400-55914200	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:55881200-55913000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:55882200-55909600	Weak transcription	Brain Germinal Matrix	brain
21	chr2:55883000-55906800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:55883000-55919800	Weak transcription	HSMMtube	muscle
23	chr2:55883200-55906600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr2:55883400-55906800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:55888000-55907200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:55888600-55904200	Weak transcription	Esophagus	oesophagus
27	chr2:55888800-55905200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:55888800-55909600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr2:55889800-55918400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr2:55890200-55915600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:55890400-55914200	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr2:55892000-55914000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:55892200-55914000	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr2:55892400-55905800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:55892400-55919800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr2:55892600-55917000	Strong transcription	Dnd41	blood
37	chr2:55893200-55908800	Strong transcription	Osteobl	bone
38	chr2:55893200-55915800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:55893800-55904200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr2:55893800-55907000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr2:55893800-55909800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr2:55893800-55910200	Weak transcription	Colonic Mucosa	Colon
43	chr2:55894000-55905400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr2:55894000-55919800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:55894200-55909400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:55894400-55905400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr2:55894400-55906800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr2:55894600-55906000	Weak transcription	Psoas Muscle	Psoas
49	chr2:55894600-55908200	Weak transcription	Thymus	Thymus
50	chr2:55895400-55904200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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