Variant report

Variant	rs2055061
Chromosome Location	chr15:44722739-44722740
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:11968301..11970323-chr15:44722385..44724773,2	K562	blood:

Variant related genes	Relation type
ENSG00000201801	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10152710	0.94[EUR][1000 genomes]
rs1021800	0.94[EUR][1000 genomes]
rs10467977	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12591178	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12591581	0.94[EUR][1000 genomes]
rs12591811	0.94[EUR][1000 genomes]
rs12592995	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12593125	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12593325	0.94[EUR][1000 genomes]
rs12593686	0.94[EUR][1000 genomes]
rs12593943	0.94[EUR][1000 genomes]
rs12594110	0.94[EUR][1000 genomes]
rs12594139	0.94[EUR][1000 genomes]
rs12594167	1.00[EUR][1000 genomes]
rs12594621	0.94[EUR][1000 genomes]
rs12594645	0.94[EUR][1000 genomes]
rs12594746	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12595484	0.94[EUR][1000 genomes]
rs17551416	0.94[EUR][1000 genomes]
rs2288341	0.94[EUR][1000 genomes]
rs2288342	1.00[EUR][1000 genomes]
rs2303577	0.94[EUR][1000 genomes]
rs2303578	0.87[EUR][1000 genomes]
rs2412883	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2412909	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2433350	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2555353	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2556562	0.89[ASN][1000 genomes]
rs2556566	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2556567	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28508235	0.94[EUR][1000 genomes]
rs28561508	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2899113	0.94[EUR][1000 genomes]
rs35555389	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3784565	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3784567	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3809471	1.00[EUR][1000 genomes]
rs3816928	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3986142	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3986143	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4415978	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4477677	1.00[EUR][1000 genomes]
rs4577056	1.00[EUR][1000 genomes]
rs57270586	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58956090	1.00[EUR][1000 genomes]
rs59230801	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59997416	0.94[EUR][1000 genomes]
rs60003667	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60399672	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61185650	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61234123	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61258861	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61278540	0.94[EUR][1000 genomes]
rs61329003	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61501839	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6493103	0.82[EUR][1000 genomes]
rs7162671	0.94[EUR][1000 genomes]
rs7162802	0.94[EUR][1000 genomes]
rs7163287	0.81[ASN][1000 genomes]
rs7163529	0.94[EUR][1000 genomes]
rs7164709	0.94[EUR][1000 genomes]
rs7166278	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7166945	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7167752	0.94[EUR][1000 genomes]
rs7169333	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7170248	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7172106	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7175200	0.94[EUR][1000 genomes]
rs7178318	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7179894	0.94[EUR][1000 genomes]
rs7181772	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7183109	0.89[EUR][1000 genomes]
rs8023453	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8024623	0.94[EUR][1000 genomes]
rs8024805	0.94[EUR][1000 genomes]
rs8025727	0.94[EUR][1000 genomes]
rs8025876	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8025955	0.94[EUR][1000 genomes]
rs8026945	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8027036	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8028509	1.00[EUR][1000 genomes]
rs8028907	0.82[EUR][1000 genomes]
rs8032079	0.94[EUR][1000 genomes]
rs8037395	0.82[EUR][1000 genomes]
rs883943	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9672237	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9673085	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9806725	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
2	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
3	esv3410956	chr15:44425145-44823647	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv904177	chr15:44582886-44821843	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv569299	chr15:44598642-44776075	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv904178	chr15:44609796-44724287	Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv569300	chr15:44609796-44763598	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv904179	chr15:44614684-44821843	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44720400-44724000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:44720400-44724000	Weak transcription	Spleen	Spleen
3	chr15:44720400-44727600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:44720400-44733000	Weak transcription	Gastric	stomach
5	chr15:44720400-44740000	Weak transcription	Esophagus	oesophagus
6	chr15:44720400-44740000	Weak transcription	Pancreas	Pancrea
7	chr15:44720600-44740000	Weak transcription	Aorta	Aorta
8	chr15:44720800-44724000	Weak transcription	Lung	lung
9	chr15:44720800-44733000	Weak transcription	Left Ventricle	heart
10	chr15:44720800-44754000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr15:44721000-44722800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr15:44721000-44722800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr15:44721000-44722800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr15:44721000-44723000	Enhancers	Fetal Heart	heart
15	chr15:44721000-44723800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr15:44721000-44724000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr15:44721000-44724800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr15:44721000-44725200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr15:44721000-44733000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr15:44721000-44733000	Weak transcription	Ovary	ovary
21	chr15:44721000-44733200	Weak transcription	Right Ventricle	heart
22	chr15:44721000-44828000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:44721200-44722800	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr15:44721200-44722800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr15:44721200-44724600	Weak transcription	Fetal Muscle Leg	muscle
26	chr15:44721200-44728200	Weak transcription	HSMM	muscle
27	chr15:44721400-44723000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr15:44721400-44723600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr15:44721400-44724800	Weak transcription	Fetal Thymus	thymus
30	chr15:44721400-44728000	Weak transcription	Osteobl	bone
31	chr15:44721400-44733400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr15:44721600-44722800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr15:44721600-44722800	Enhancers	Primary hematopoietic stem cells	blood
34	chr15:44721600-44722800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr15:44721600-44722800	Enhancers	Liver	Liver
36	chr15:44721600-44722800	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr15:44721600-44723000	Enhancers	Psoas Muscle	Psoas
38	chr15:44721600-44723000	Enhancers	Rectal Smooth Muscle	rectum
39	chr15:44721600-44724000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr15:44721600-44728000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr15:44721600-44728200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr15:44721600-44728200	Weak transcription	Brain Angular Gyrus	brain
43	chr15:44721600-44728200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr15:44721600-44728200	Weak transcription	A549	lung
45	chr15:44721600-44729000	Weak transcription	Fetal Kidney	kidney
46	chr15:44721600-44732800	Weak transcription	Adipose Nuclei	Adipose
47	chr15:44721600-44733000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr15:44721600-44750800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr15:44721600-44751200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr15:44721600-44753000	Weak transcription	Stomach Smooth Muscle	stomach

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