Variant report

Variant	rs72797515
Chromosome Location	chr2:55362503-55362504
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55272140..55279868-chr2:55356344..55371606,28	K562	blood:
2	chr2:55269242..55271326-chr2:55360631..55363213,2	K562	blood:
3	chr2:55275855..55279437-chr2:55359990..55364186,7	K562	blood:
4	chr2:55350017..55352674-chr2:55360663..55363208,2	K562	blood:
5	chr2:55354045..55358992-chr2:55359264..55362961,10	K562	blood:

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10194457	0.89[ASN][1000 genomes]
rs11892071	0.89[EUR][1000 genomes]
rs4233958	0.89[ASN][1000 genomes]
rs4672022	0.89[ASN][1000 genomes]
rs55691469	0.98[EUR][1000 genomes]
rs55875262	0.92[EUR][1000 genomes]
rs56056614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56073856	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56231606	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56285641	0.91[EUR][1000 genomes]
rs58680169	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6721769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6721928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6731596	0.89[ASN][1000 genomes]
rs6745066	0.90[ASN][1000 genomes]
rs72795491	0.92[EUR][1000 genomes]
rs72795493	0.92[EUR][1000 genomes]
rs72795498	0.92[EUR][1000 genomes]
rs72795499	0.86[EUR][1000 genomes]
rs72797513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72797516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72797517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72797519	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72797522	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72797530	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72797534	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72797535	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72797536	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72797537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7575639	0.89[ASN][1000 genomes]
rs7585618	0.89[ASN][1000 genomes]
rs9789426	0.92[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72797515	CLHC1	cis	Artery Tibial	GTEx

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55360800-55362600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:55361000-55363000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:55361000-55364000	Weak transcription	Left Ventricle	heart
4	chr2:55361200-55364400	Weak transcription	Right Ventricle	heart
5	chr2:55361200-55365400	Enhancers	Fetal Intestine Small	intestine
6	chr2:55361400-55366400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr2:55361400-55370200	Enhancers	Fetal Intestine Large	intestine
8	chr2:55361600-55363200	Enhancers	Brain Cingulate Gyrus	brain
9	chr2:55361600-55363400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:55361600-55363400	Enhancers	Duodenum Mucosa	Duodenum
11	chr2:55361600-55363400	Weak transcription	Right Atrium	heart
12	chr2:55361600-55364000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:55361600-55364000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:55361600-55364200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:55361600-55364200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:55361600-55364400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr2:55361600-55365200	Enhancers	K562	blood
18	chr2:55361600-55365400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:55361600-55366000	Enhancers	Primary hematopoietic stem cells	blood
20	chr2:55361600-55368200	Weak transcription	Esophagus	oesophagus
21	chr2:55361800-55362600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:55361800-55362800	Enhancers	Primary B cells from peripheral blood	blood
23	chr2:55361800-55363000	Weak transcription	Fetal Brain Male	brain
24	chr2:55361800-55363200	Enhancers	Brain Hippocampus Middle	brain
25	chr2:55361800-55363200	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr2:55361800-55363200	Enhancers	Stomach Mucosa	stomach
27	chr2:55361800-55363400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:55361800-55363400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:55361800-55363600	Enhancers	Primary T cells fromperipheralblood	blood
30	chr2:55361800-55363600	Enhancers	Brain Substantia Nigra	brain
31	chr2:55361800-55363800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr2:55361800-55364000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:55361800-55364000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr2:55361800-55364400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:55361800-55365000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:55361800-55365200	Enhancers	Brain Germinal Matrix	brain
37	chr2:55361800-55365200	Weak transcription	Fetal Heart	heart
38	chr2:55361800-55366800	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr2:55361800-55366800	Weak transcription	Hela-S3	cervix
40	chr2:55361800-55367800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:55361800-55368000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:55361800-55368600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:55361800-55368800	Weak transcription	A549	lung
44	chr2:55361800-55373000	Weak transcription	HSMMtube	muscle
45	chr2:55361800-55378600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:55362000-55363000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr2:55362000-55363200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr2:55362000-55363200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr2:55362000-55363400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:55362000-55363400	Weak transcription	GM12878-XiMat	blood

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