Variant report

Variant	rs12565220
Chromosome Location	chr1:61522880-61522881
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:61521642..61524163-chr1:61579913..61581726,2	K562	blood:
2	chr1:61521000..61524411-chr1:61562125..61565012,3	K562	blood:
3	chr1:61522656..61524631-chr1:61723609..61725253,2	K562	blood:
4	chr1:61513320..61528030-chr1:61539604..61553659,57	K562	blood:
5	chr1:61522747..61524252-chr1:61734041..61737006,2	K562	blood:
6	chr1:61520693..61524394-chr1:61599232..61603090,3	K562	blood:
7	chr1:61519880..61523708-chr1:62105298..62109732,4	MCF-7	breast:
8	chr1:61472293..61476922-chr1:61520957..61524136,5	K562	blood:
9	chr1:61520526..61523286-chr1:61586860..61589725,3	K562	blood:
10	chr1:61521188..61523261-chr1:61583474..61586081,2	K562	blood:
11	chr1:61522323..61524411-chr1:61562125..61565012,2	K562	blood:
12	chr1:61520265..61526654-chr1:61531787..61535432,7	K562	blood:
13	chr1:61452155..61454580-chr1:61520855..61523398,2	K562	blood:
14	chr1:61522302..61525777-chr1:61554119..61555915,3	K562	blood:
15	chr1:61512478..61530748-chr1:61539371..61553659,68	K562	blood:
16	chr1:61522141..61524264-chr1:61659818..61661970,2	K562	blood:
17	chr1:61522430..61525145-chr1:61527111..61531293,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000263380	Chromatin interaction
ENSG00000162599	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11207690	0.81[EUR][1000 genomes]
rs11207691	0.81[EUR][1000 genomes]
rs11207692	0.82[CEU][hapmap]
rs12126737	0.83[GIH][hapmap]
rs12130085	0.82[CEU][hapmap];1.00[GIH][hapmap]
rs12402443	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12402756	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12403502	0.83[GIH][hapmap]
rs12404093	0.82[CEU][hapmap]
rs12404336	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12406426	0.90[CEU][hapmap];0.97[EUR][1000 genomes]
rs17121536	0.91[CEU][hapmap]
rs36002894	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61517200-61523800	Active TSS	Fetal Brain Female	brain
2	chr1:61521800-61523600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:61521800-61523600	Active TSS	Rectal Smooth Muscle	rectum
4	chr1:61521800-61523800	Active TSS	Brain Angular Gyrus	brain
5	chr1:61521800-61523800	Active TSS	Brain Germinal Matrix	brain
6	chr1:61522000-61523600	Active TSS	Fetal Stomach	stomach
7	chr1:61522000-61523600	Active TSS	Ovary	ovary
8	chr1:61522000-61523800	Active TSS	Duodenum Mucosa	Duodenum
9	chr1:61522000-61523800	Active TSS	Fetal Muscle Trunk	muscle
10	chr1:61522200-61523000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:61522200-61523200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:61522200-61523400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr1:61522200-61523400	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr1:61522200-61523600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:61522200-61523600	Active TSS	Aorta	Aorta
16	chr1:61522200-61523600	Active TSS	Brain Cingulate Gyrus	brain
17	chr1:61522200-61523600	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr1:61522200-61523600	Active TSS	Brain Substantia Nigra	brain
19	chr1:61522200-61523600	Active TSS	Psoas Muscle	Psoas
20	chr1:61522200-61523800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr1:61522200-61523800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:61522200-61523800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:61522200-61523800	Active TSS	Brain Anterior Caudate	brain
24	chr1:61522200-61523800	Active TSS	Colonic Mucosa	Colon
25	chr1:61522200-61523800	Active TSS	Fetal Intestine Large	intestine
26	chr1:61522200-61523800	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr1:61522200-61523800	Active TSS	Placenta	Placenta
28	chr1:61522200-61523800	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr1:61522200-61523800	Active TSS	Right Atrium	heart
30	chr1:61522200-61523800	Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr1:61522400-61523000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:61522400-61523000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
33	chr1:61522400-61523000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
34	chr1:61522400-61523000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:61522400-61523000	Active TSS	Small Intestine	intestine
36	chr1:61522400-61523000	Active TSS	Stomach Mucosa	stomach
37	chr1:61522400-61523000	Bivalent/Poised TSS	HSMM	muscle
38	chr1:61522400-61523200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:61522400-61523200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
40	chr1:61522400-61523200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
41	chr1:61522400-61523200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr1:61522400-61523200	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr1:61522400-61523200	Bivalent/Poised TSS	HepG2	liver
44	chr1:61522400-61523400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr1:61522400-61523400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:61522400-61523400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:61522400-61523400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:61522400-61523400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:61522400-61523400	Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr1:61522400-61523400	Active TSS	Lung	lung

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