Variant report

Variant	rs12402443
Chromosome Location	chr1:61523736-61523737
allele	G/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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 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	chr1:61472293..61476922-chr1:61520957..61524136,5	K562	blood:
8	chr1:61522323..61524411-chr1:61562125..61565012,2	K562	blood:
9	chr1:61493032..61494892-chr1:61523177..61526070,2	K562	blood:
10	chr1:61520265..61526654-chr1:61531787..61535432,7	K562	blood:
11	chr1:61522302..61525777-chr1:61554119..61555915,3	K562	blood:
12	chr1:61512478..61530748-chr1:61539371..61553659,68	K562	blood:
13	chr1:61522141..61524264-chr1:61659818..61661970,2	K562	blood:
14	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: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11207690	0.81[EUR][1000 genomes]
rs11207691	0.81[EUR][1000 genomes]
rs12402756	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12404336	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12406426	0.97[EUR][1000 genomes]
rs12565220	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36002894	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61517200-61523800	Active TSS	Fetal Brain Female	brain
2	chr1:61521800-61523800	Active TSS	Brain Angular Gyrus	brain
3	chr1:61521800-61523800	Active TSS	Brain Germinal Matrix	brain
4	chr1:61522000-61523800	Active TSS	Duodenum Mucosa	Duodenum
5	chr1:61522000-61523800	Active TSS	Fetal Muscle Trunk	muscle
6	chr1:61522200-61523800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr1:61522200-61523800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:61522200-61523800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:61522200-61523800	Active TSS	Brain Anterior Caudate	brain
10	chr1:61522200-61523800	Active TSS	Colonic Mucosa	Colon
11	chr1:61522200-61523800	Active TSS	Fetal Intestine Large	intestine
12	chr1:61522200-61523800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr1:61522200-61523800	Active TSS	Placenta	Placenta
14	chr1:61522200-61523800	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr1:61522200-61523800	Active TSS	Right Atrium	heart
16	chr1:61522200-61523800	Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr1:61522400-61523800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:61522400-61523800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:61522400-61523800	Active TSS	Brain Hippocampus Middle	brain
20	chr1:61522400-61523800	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr1:61522400-61523800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr1:61522400-61523800	Flanking Active TSS	Fetal Brain Male	brain
23	chr1:61522400-61523800	Active TSS	Hela-S3	cervix
24	chr1:61522400-61524000	Active TSS	Fetal Intestine Small	intestine
25	chr1:61522400-61524000	Active TSS	A549	lung
26	chr1:61522600-61523800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr1:61522600-61523800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
28	chr1:61522600-61523800	Active TSS	Muscle Satellite Cultured Cells	--
29	chr1:61522600-61523800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:61522600-61523800	Active TSS	K562	blood
31	chr1:61522600-61524000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr1:61522800-61523800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr1:61522800-61523800	Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr1:61523000-61523800	Active TSS	HSMM	muscle
35	chr1:61523200-61523800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr1:61523200-61523800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
37	chr1:61523200-61523800	Active TSS	HepG2	liver
38	chr1:61523200-61523800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
39	chr1:61523200-61524000	Active TSS	H9 Cell Line	embryonic stem cell
40	chr1:61523400-61523800	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr1:61523400-61523800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
42	chr1:61523400-61523800	Active TSS	Primary hematopoietic stem cells	blood
43	chr1:61523400-61523800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:61523400-61523800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:61523400-61523800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:61523400-61523800	Flanking Active TSS	HUVEC	blood vessel
47	chr1:61523400-61523800	Flanking Active TSS	NHEK	skin
48	chr1:61523600-61523800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
49	chr1:61523600-61523800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:61523600-61523800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood

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