Variant report

Variant	rs58462277
Chromosome Location	chr2:128254230-128254231
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:128244656..128249813-chr2:128251598..128254709,4	K562	blood:
2	chr2:128252742..128257786-chr2:128259885..128265839,7	K562	blood:
3	chr2:128252742..128255070-chr2:128263163..128265839,2	K562	blood:
4	chr2:128252971..128255042-chr2:128282786..128285766,2	MCF-7	breast:
5	chr2:128241495..128243616-chr2:128253341..128255366,2	K562	blood:

Variant related genes	Relation type
ENSG00000163166	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10190872	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10206221	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12470481	0.84[ASN][1000 genomes]
rs12475217	0.94[ASN][1000 genomes]
rs12621149	0.96[ASN][1000 genomes]
rs12987418	0.84[ASN][1000 genomes]
rs13397441	0.83[ASN][1000 genomes]
rs13399231	0.82[ASN][1000 genomes]
rs13415053	0.83[ASN][1000 genomes]
rs1549767	0.96[ASN][1000 genomes]
rs17015347	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17015399	0.82[ASN][1000 genomes]
rs173013	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17522960	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2078028	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2176595	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2249646	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2566564	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2679402	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2679407	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs334139	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs334140	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs334142	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs334147	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs334148	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs334149	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs334150	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs334153	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs334155	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs334162	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3732208	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4423553	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs55981410	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56217122	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56234754	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59934067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61342606	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6707425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6722447	0.98[ASN][1000 genomes]
rs6731270	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6734816	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6748790	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6757654	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72958594	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72958600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7570609	0.83[ASN][1000 genomes]
rs7572181	0.83[ASN][1000 genomes]
rs7574209	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7574215	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7576217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7598346	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7603777	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs777547	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs777549	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs777550	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs777551	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs777557	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs777558	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs777561	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs777562	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs777563	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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	chr2:128223600-128268800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:128229000-128257000	Weak transcription	Stomach Mucosa	stomach
3	chr2:128235200-128270000	Strong transcription	Dnd41	blood
4	chr2:128237400-128262400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:128237600-128255000	Strong transcription	Fetal Muscle Leg	muscle
6	chr2:128237600-128255200	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr2:128237600-128255400	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:128237600-128256000	Strong transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:128237600-128256200	Strong transcription	HepG2	liver
10	chr2:128237600-128263200	Strong transcription	Adipose Nuclei	Adipose
11	chr2:128237600-128263200	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr2:128237600-128263400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:128237600-128263400	Strong transcription	Fetal Thymus	thymus
14	chr2:128237800-128254400	Strong transcription	Brain Substantia Nigra	brain
15	chr2:128237800-128254600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:128237800-128255800	Strong transcription	Stomach Smooth Muscle	stomach
17	chr2:128237800-128263200	Strong transcription	Liver	Liver
18	chr2:128237800-128263200	Strong transcription	HUVEC	blood vessel
19	chr2:128237800-128263400	Strong transcription	Placenta	Placenta
20	chr2:128238400-128255200	Strong transcription	K562	blood
21	chr2:128238400-128262400	Strong transcription	NH-A	brain
22	chr2:128238800-128260400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr2:128239200-128263400	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr2:128239200-128264800	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:128239400-128255400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:128239400-128256200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:128239400-128264400	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:128239400-128266200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:128239400-128266400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:128239800-128261800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:128240000-128263400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:128240200-128263600	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:128240400-128263800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:128240600-128265600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:128241000-128263200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:128241600-128254800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:128241800-128254600	Strong transcription	HSMMtube	muscle
38	chr2:128242000-128256600	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr2:128242000-128262600	Strong transcription	Fetal Brain Female	brain
40	chr2:128242600-128255800	Strong transcription	NHDF-Ad	bronchial
41	chr2:128242600-128263200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:128242600-128263200	Strong transcription	HMEC	breast
43	chr2:128242800-128262200	Strong transcription	HSMM	muscle
44	chr2:128244000-128254800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:128244000-128263200	Strong transcription	Primary B cells from cord blood	blood
46	chr2:128244400-128255800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:128244600-128255600	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr2:128244600-128255800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:128244600-128262200	Strong transcription	Osteobl	bone
50	chr2:128244600-128263600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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