Variant report

Variant	rs61496590
Chromosome Location	chr5:126208560-126208561
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126198494..126201605-chr5:126207767..126211147,4	K562	blood:
2	chr5:126207708..126209914-chr5:126216548..126218429,2	MCF-7	breast:
3	chr5:126207189..126208908-chr5:126210133..126213667,3	K562	blood:
4	chr5:126203203..126206688-chr5:126207473..126211338,4	K562	blood:
5	chr5:126204703..126206861-chr5:126208069..126211338,4	K562	blood:

Extended variants
information (count: 178 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:176)

rs_ID	r²[population]
rs10040840	1.00[EUR][1000 genomes]
rs10519919	0.82[EUR][1000 genomes]
rs10519922	0.82[EUR][1000 genomes]
rs10519923	0.82[EUR][1000 genomes]
rs12518420	0.82[EUR][1000 genomes]
rs12651864	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12652390	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12652417	0.82[EUR][1000 genomes]
rs12653000	0.82[EUR][1000 genomes]
rs12653290	0.82[EUR][1000 genomes]
rs12653444	0.82[EUR][1000 genomes]
rs12654717	0.82[EUR][1000 genomes]
rs12654725	0.82[EUR][1000 genomes]
rs12654808	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12655006	0.82[EUR][1000 genomes]
rs12655199	0.82[EUR][1000 genomes]
rs12655223	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12655258	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12655319	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12655435	0.82[EUR][1000 genomes]
rs12655605	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12655726	0.82[EUR][1000 genomes]
rs12655928	0.82[EUR][1000 genomes]
rs12655991	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12656236	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12656537	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12656837	0.82[EUR][1000 genomes]
rs12658138	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12658174	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12658599	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12658608	0.80[ASN][1000 genomes]
rs12658816	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12658821	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12658822	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12659476	0.82[EUR][1000 genomes]
rs12659607	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12659614	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12659633	0.82[EUR][1000 genomes]
rs17165192	0.82[EUR][1000 genomes]
rs17165194	0.82[EUR][1000 genomes]
rs17165211	0.82[EUR][1000 genomes]
rs17165228	0.82[EUR][1000 genomes]
rs17165234	0.82[EUR][1000 genomes]
rs17165239	0.82[EUR][1000 genomes]
rs17165249	0.82[EUR][1000 genomes]
rs34416835	0.82[EUR][1000 genomes]
rs34738240	0.82[EUR][1000 genomes]
rs35566904	0.82[EUR][1000 genomes]
rs35627668	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs36091921	0.82[EUR][1000 genomes]
rs3812061	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4141169	0.82[EUR][1000 genomes]
rs55792418	0.82[EUR][1000 genomes]
rs55802546	0.82[EUR][1000 genomes]
rs56094173	0.82[EUR][1000 genomes]
rs56124224	0.82[EUR][1000 genomes]
rs56272610	0.82[EUR][1000 genomes]
rs56688052	0.82[EUR][1000 genomes]
rs56689722	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56786115	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs57031083	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57032367	0.82[EUR][1000 genomes]
rs57052202	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57081850	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57113926	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57485054	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57627287	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57700815	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57833976	0.82[EUR][1000 genomes]
rs57906418	0.95[ASN][1000 genomes]
rs57915728	0.82[EUR][1000 genomes]
rs58164143	0.82[EUR][1000 genomes]
rs58262537	0.82[EUR][1000 genomes]
rs58527455	0.82[EUR][1000 genomes]
rs58646561	0.82[EUR][1000 genomes]
rs58838495	1.00[EUR][1000 genomes]
rs58894799	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59459356	0.82[EUR][1000 genomes]
rs59489123	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59643871	0.82[EUR][1000 genomes]
rs59676931	0.82[EUR][1000 genomes]
rs59814275	0.82[EUR][1000 genomes]
rs60045571	1.00[EUR][1000 genomes]
rs60138815	0.82[EUR][1000 genomes]
rs60244211	0.95[ASN][1000 genomes]
rs60615137	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs60636815	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60781824	0.82[EUR][1000 genomes]
rs60889784	0.82[EUR][1000 genomes]
rs61031864	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61258380	0.82[EUR][1000 genomes]
rs61279308	0.82[EUR][1000 genomes]
rs61463824	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61647801	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61653213	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61685918	0.82[EUR][1000 genomes]
rs6862462	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6864607	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6872893	0.82[EUR][1000 genomes]
rs6877692	0.82[EUR][1000 genomes]
rs6882025	0.82[EUR][1000 genomes]
rs6883181	0.82[EUR][1000 genomes]
rs6888532	0.82[EUR][1000 genomes]
rs6893763	0.82[EUR][1000 genomes]
rs6899030	0.82[EUR][1000 genomes]
rs72505648	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73335426	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73335444	1.00[EUR][1000 genomes]
rs73335447	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73335461	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73335474	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73335490	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73335494	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73335498	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73335501	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73337225	0.87[AFR][1000 genomes]
rs73337229	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73337233	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73337299	0.82[EUR][1000 genomes]
rs73783476	1.00[EUR][1000 genomes]
rs73783496	0.82[EUR][1000 genomes]
rs73783501	0.82[EUR][1000 genomes]
rs73783503	0.82[EUR][1000 genomes]
rs73783504	0.82[EUR][1000 genomes]
rs73783506	0.82[EUR][1000 genomes]
rs73783507	0.82[EUR][1000 genomes]
rs73786207	0.82[EUR][1000 genomes]
rs73786209	0.82[EUR][1000 genomes]
rs73786212	0.82[EUR][1000 genomes]
rs73786239	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73786240	0.82[EUR][1000 genomes]
rs73786241	0.82[EUR][1000 genomes]
rs73786242	0.82[EUR][1000 genomes]
rs73786244	0.82[EUR][1000 genomes]
rs73786246	0.82[EUR][1000 genomes]
rs73786247	0.82[EUR][1000 genomes]
rs73786249	0.82[EUR][1000 genomes]
rs73786250	0.82[EUR][1000 genomes]
rs73786251	0.82[EUR][1000 genomes]
rs73786252	0.82[EUR][1000 genomes]
rs73786253	0.82[EUR][1000 genomes]
rs73786255	0.82[EUR][1000 genomes]
rs73786259	0.82[EUR][1000 genomes]
rs73786260	0.82[EUR][1000 genomes]
rs73786261	0.82[EUR][1000 genomes]
rs73786262	0.82[EUR][1000 genomes]
rs73786264	0.82[EUR][1000 genomes]
rs73786265	0.82[EUR][1000 genomes]
rs73786266	0.82[EUR][1000 genomes]
rs73786268	0.82[EUR][1000 genomes]
rs73786269	0.82[EUR][1000 genomes]
rs73786270	0.82[EUR][1000 genomes]
rs73786271	0.82[EUR][1000 genomes]
rs73786272	0.82[EUR][1000 genomes]
rs73786276	0.82[EUR][1000 genomes]
rs73786277	0.82[EUR][1000 genomes]
rs73786278	0.82[EUR][1000 genomes]
rs73786280	0.82[EUR][1000 genomes]
rs73786281	0.82[EUR][1000 genomes]
rs73786282	0.82[EUR][1000 genomes]
rs73786283	0.82[EUR][1000 genomes]
rs73786284	0.82[EUR][1000 genomes]
rs73786285	0.82[EUR][1000 genomes]
rs73786287	0.82[EUR][1000 genomes]
rs73786288	0.82[EUR][1000 genomes]
rs73786290	0.82[EUR][1000 genomes]
rs73786294	0.82[EUR][1000 genomes]
rs73786295	0.82[EUR][1000 genomes]
rs73786298	0.82[EUR][1000 genomes]
rs73787403	0.82[EUR][1000 genomes]
rs73787404	0.82[EUR][1000 genomes]
rs73787406	0.82[EUR][1000 genomes]
rs7701976	1.00[EUR][1000 genomes]
rs7715377	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7727719	1.00[EUR][1000 genomes]
rs9918233	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949054	chr5:125918148-126254480	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126183600-126210400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:126201800-126253400	Weak transcription	A549	lung
3	chr5:126203400-126210800	Weak transcription	Right Atrium	heart
4	chr5:126203600-126210400	Weak transcription	Fetal Heart	heart
5	chr5:126204000-126210800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:126205000-126212800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr5:126205000-126214000	Weak transcription	Pancreas	Pancrea
8	chr5:126205200-126210400	Weak transcription	Placenta	Placenta
9	chr5:126205200-126210400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr5:126205200-126210400	Weak transcription	Spleen	Spleen
11	chr5:126205200-126210800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:126205200-126210800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr5:126205200-126214400	Weak transcription	Psoas Muscle	Psoas
14	chr5:126205200-126216200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr5:126205200-126219200	Weak transcription	Osteobl	bone
16	chr5:126205200-126245600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr5:126205400-126212200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr5:126205400-126212600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr5:126205400-126212600	Weak transcription	HUVEC	blood vessel
20	chr5:126205400-126214000	Weak transcription	Adipose Nuclei	Adipose
21	chr5:126205400-126214200	Enhancers	Fetal Brain Male	brain
22	chr5:126205400-126215000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr5:126205400-126217200	Weak transcription	Brain Anterior Caudate	brain
24	chr5:126205400-126219200	Weak transcription	Brain Substantia Nigra	brain
25	chr5:126205400-126219600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:126205400-126220200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:126205400-126220800	Weak transcription	Thymus	Thymus
28	chr5:126205400-126221400	Weak transcription	Fetal Thymus	thymus
29	chr5:126205400-126245600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr5:126205600-126209600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:126205600-126210200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:126205600-126210600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:126205600-126210600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr5:126205600-126215400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr5:126205600-126220200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:126205600-126223400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr5:126205600-126238200	Weak transcription	Primary T cells from cord blood	blood
38	chr5:126205800-126210400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr5:126205800-126211000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr5:126205800-126211000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr5:126206000-126209000	Strong transcription	HSMM	muscle
42	chr5:126206000-126210800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr5:126206000-126211000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:126206000-126211600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr5:126206200-126209000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:126206200-126209400	Strong transcription	Fetal Intestine Small	intestine
47	chr5:126206400-126209000	Strong transcription	Primary B cells from peripheral blood	blood
48	chr5:126206400-126209000	Strong transcription	K562	blood
49	chr5:126206400-126220400	Weak transcription	Lung	lung
50	chr5:126206600-126209200	Weak transcription	Primary B cells from cord blood	blood

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