Variant report

Variant	rs777551
Chromosome Location	chr2:128278583-128278584
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:128268636..128271128-chr2:128277665..128280504,3	K562	blood:
2	chr2:128272088..128276196-chr2:128278536..128286742,8	K562	blood:
3	chr2:128271568..128276709-chr2:128278536..128286742,13	K562	blood:
4	chr2:128275312..128279572-chr2:128410107..128412898,3	K562	blood:
5	chr2:128278204..128279874-chr2:128280067..128281749,2	K562	blood:

Variant related genes	Relation type
ENSG00000163166	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10190872	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10206221	0.90[ASN][1000 genomes]
rs12470481	0.81[ASN][1000 genomes]
rs12475217	0.91[ASN][1000 genomes]
rs12621149	0.97[ASN][1000 genomes]
rs12987418	0.81[ASN][1000 genomes]
rs13397441	0.88[ASN][1000 genomes]
rs13399231	0.87[ASN][1000 genomes]
rs13415053	0.88[ASN][1000 genomes]
rs1549767	0.97[ASN][1000 genomes]
rs17015347	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17015399	0.87[ASN][1000 genomes]
rs173013	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17522960	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2078028	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2176595	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2249646	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2566564	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2679402	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2679407	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs334139	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334140	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs334142	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs334147	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs334148	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs334149	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs334150	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs334153	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs334155	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs334162	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3732208	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4423553	0.88[ASN][1000 genomes]
rs55981410	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56217122	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56234754	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58462277	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59934067	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61342606	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6707186	0.84[ASN][1000 genomes]
rs6707425	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6722447	0.95[ASN][1000 genomes]
rs6731270	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6734816	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6748790	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6757654	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72958594	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72958600	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7570609	0.88[ASN][1000 genomes]
rs7572181	0.88[ASN][1000 genomes]
rs7574209	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7574215	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7576217	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7598346	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7603777	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs777547	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs777549	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs777550	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs777557	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs777558	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs777561	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs777562	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs777563	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875014	chr2:128178415-128328375	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128262600-128283000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:128263000-128281200	Weak transcription	Fetal Kidney	kidney
3	chr2:128263200-128282800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:128266000-128282800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:128267200-128282000	Weak transcription	Fetal Brain Male	brain
6	chr2:128267600-128281200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:128267600-128282000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:128268400-128281600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr2:128268600-128281600	Strong transcription	Fetal Thymus	thymus
10	chr2:128270200-128282600	Weak transcription	Small Intestine	intestine
11	chr2:128271000-128278600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:128271400-128281400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:128271400-128281800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:128271400-128281800	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr2:128271600-128279000	Strong transcription	Liver	Liver
16	chr2:128271800-128281400	Strong transcription	Fetal Intestine Large	intestine
17	chr2:128272000-128281200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:128272400-128282800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:128272400-128282800	Weak transcription	Colonic Mucosa	Colon
20	chr2:128272600-128280600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:128272600-128281000	Strong transcription	HepG2	liver
22	chr2:128272800-128282800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:128273400-128278600	Strong transcription	Fetal Lung	lung
24	chr2:128273600-128281200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr2:128273600-128281200	Strong transcription	Duodenum Mucosa	Duodenum
26	chr2:128273600-128281400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:128273600-128281600	Strong transcription	Primary B cells from cord blood	blood
28	chr2:128273600-128281800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:128273600-128281800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:128273600-128282800	Weak transcription	Gastric	stomach
31	chr2:128273800-128279400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:128273800-128279600	Weak transcription	Esophagus	oesophagus
33	chr2:128273800-128281600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr2:128273800-128281600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:128274000-128281600	Weak transcription	Fetal Heart	heart
36	chr2:128274000-128281800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr2:128274000-128282200	Weak transcription	Pancreas	Pancrea
38	chr2:128274200-128280600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:128274200-128281200	Weak transcription	Brain Angular Gyrus	brain
40	chr2:128274200-128281400	Strong transcription	Fetal Muscle Leg	muscle
41	chr2:128274200-128281600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:128274200-128281800	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:128274200-128281800	Strong transcription	K562	blood
44	chr2:128274200-128282000	Strong transcription	Placenta	Placenta
45	chr2:128274200-128282200	Weak transcription	Lung	lung
46	chr2:128274200-128282200	Weak transcription	Spleen	Spleen
47	chr2:128274200-128282600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr2:128274200-128282600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:128274200-128282800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:128274200-128283000	Weak transcription	Aorta	Aorta

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