Variant report

Variant	rs61647801
Chromosome Location	chr5:126205779-126205780
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126205511..126206011-chr7:70301812..70302369,2	MCF-7	breast:
2	chr5:126202154..126203859-chr5:126205061..126207137,2	K562	blood:
3	chr5:126204703..126206861-chr5:126208069..126211338,4	K562	blood:
4	chr5:126203203..126206688-chr5:126207473..126211338,4	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10040840	0.82[EUR][1000 genomes]
rs12651864	0.80[ASN][1000 genomes]
rs12652390	0.95[ASN][1000 genomes]
rs12654808	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12655223	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12655319	0.95[ASN][1000 genomes]
rs12655605	0.80[ASN][1000 genomes]
rs12655991	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12656236	0.80[ASN][1000 genomes]
rs12656537	0.90[ASN][1000 genomes]
rs12658174	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12658599	0.95[ASN][1000 genomes]
rs12658608	0.80[ASN][1000 genomes]
rs12658816	0.95[ASN][1000 genomes]
rs12658821	0.80[ASN][1000 genomes]
rs12658822	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12659607	0.80[ASN][1000 genomes]
rs12659614	0.80[ASN][1000 genomes]
rs35627668	0.80[ASN][1000 genomes]
rs3812061	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56689722	0.90[ASN][1000 genomes]
rs57031083	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57052202	0.95[ASN][1000 genomes]
rs57081850	0.95[ASN][1000 genomes]
rs57113926	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57485054	0.82[EUR][1000 genomes]
rs57627287	0.95[ASN][1000 genomes]
rs57700815	0.90[ASN][1000 genomes]
rs57906418	0.95[ASN][1000 genomes]
rs58838495	0.82[EUR][1000 genomes]
rs58894799	0.95[ASN][1000 genomes]
rs59489123	0.90[ASN][1000 genomes]
rs60045571	0.82[EUR][1000 genomes]
rs60244211	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60636815	0.90[ASN][1000 genomes]
rs61031864	0.90[ASN][1000 genomes]
rs61463824	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61496590	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61653213	0.90[ASN][1000 genomes]
rs6864607	0.82[EUR][1000 genomes]
rs72505648	0.82[EUR][1000 genomes]
rs73335426	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73335444	0.82[EUR][1000 genomes]
rs73335447	0.82[EUR][1000 genomes]
rs73335461	0.82[EUR][1000 genomes]
rs73335474	0.82[EUR][1000 genomes]
rs73783476	0.82[EUR][1000 genomes]
rs7701976	0.82[EUR][1000 genomes]
rs7715377	0.82[EUR][1000 genomes]
rs7727719	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:76 , 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	chr5:126194400-126208000	Weak transcription	Right Ventricle	heart
3	chr5:126200400-126207800	Weak transcription	Dnd41	blood
4	chr5:126201800-126253400	Weak transcription	A549	lung
5	chr5:126203400-126210800	Weak transcription	Right Atrium	heart
6	chr5:126203600-126210400	Weak transcription	Fetal Heart	heart
7	chr5:126204000-126210800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:126204200-126206400	Weak transcription	K562	blood
9	chr5:126204400-126206200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr5:126205000-126206000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr5:126205000-126206200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:126205000-126206200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:126205000-126206200	Weak transcription	Fetal Intestine Small	intestine
14	chr5:126205000-126212800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr5:126205000-126214000	Weak transcription	Pancreas	Pancrea
16	chr5:126205200-126205800	Enhancers	Primary B cells from peripheral blood	blood
17	chr5:126205200-126206000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:126205200-126206000	Weak transcription	Left Ventricle	heart
19	chr5:126205200-126206200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr5:126205200-126206200	Weak transcription	Lung	lung
21	chr5:126205200-126207000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:126205200-126207400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:126205200-126208000	Weak transcription	Ovary	ovary
24	chr5:126205200-126208000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr5:126205200-126208400	Weak transcription	Fetal Kidney	kidney
26	chr5:126205200-126210400	Weak transcription	Placenta	Placenta
27	chr5:126205200-126210400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr5:126205200-126210400	Weak transcription	Spleen	Spleen
29	chr5:126205200-126210800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:126205200-126210800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr5:126205200-126214400	Weak transcription	Psoas Muscle	Psoas
32	chr5:126205200-126216200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr5:126205200-126219200	Weak transcription	Osteobl	bone
34	chr5:126205200-126245600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr5:126205400-126205800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr5:126205400-126205800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr5:126205400-126205800	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr5:126205400-126205800	Enhancers	Fetal Brain Female	brain
39	chr5:126205400-126205800	Enhancers	HSMMtube	muscle
40	chr5:126205400-126206000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:126205400-126206000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr5:126205400-126206000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:126205400-126206000	Weak transcription	HSMM	muscle
44	chr5:126205400-126206200	Weak transcription	Fetal Muscle Leg	muscle
45	chr5:126205400-126206600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:126205400-126206800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:126205400-126207000	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr5:126205400-126212200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr5:126205400-126212600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr5:126205400-126212600	Weak transcription	HUVEC	blood vessel

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