Variant report

Variant	rs72795498
Chromosome Location	chr2:55347135-55347136
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55273963..55277742-chr2:55344682..55351127,9	K562	blood:
2	chr2:55275026..55277831-chr2:55345996..55347891,2	MCF-7	breast:
3	chr2:55346562..55348270-chr2:55453778..55456492,2	K562	blood:
4	chr2:55325626..55328074-chr2:55345685..55348277,2	K562	blood:
5	chr2:55339781..55342552-chr2:55346442..55349594,4	K562	blood:
6	chr2:55255186..55258524-chr2:55346221..55348339,3	K562	blood:
7	chr2:55276893..55279420-chr2:55345173..55348059,4	K562	blood:
8	chr2:55315563..55318504-chr2:55346291..55347986,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11892071	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2920844	0.81[ASN][1000 genomes]
rs2968781	0.81[ASN][1000 genomes]
rs55691469	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55875262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56056614	0.92[EUR][1000 genomes]
rs56073856	0.92[EUR][1000 genomes]
rs56231606	0.92[EUR][1000 genomes]
rs56285641	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58680169	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6721769	0.92[EUR][1000 genomes]
rs6721928	0.92[EUR][1000 genomes]
rs72795491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72795493	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72795499	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72797513	0.92[EUR][1000 genomes]
rs72797515	0.92[EUR][1000 genomes]
rs72797516	0.92[EUR][1000 genomes]
rs72797517	0.92[EUR][1000 genomes]
rs72797519	0.91[EUR][1000 genomes]
rs72797522	0.92[EUR][1000 genomes]
rs72797530	0.92[EUR][1000 genomes]
rs72797534	0.92[EUR][1000 genomes]
rs72797535	0.92[EUR][1000 genomes]
rs72797536	0.92[EUR][1000 genomes]
rs72797537	0.92[EUR][1000 genomes]
rs9789426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72795498	CLHC1	cis	Artery Tibial	GTEx

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55337200-55351000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:55339400-55351000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:55340800-55347200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:55340800-55348000	Enhancers	Brain Hippocampus Middle	brain
5	chr2:55340800-55348000	Enhancers	Brain Substantia Nigra	brain
6	chr2:55342400-55350200	Enhancers	Fetal Heart	heart
7	chr2:55343200-55347200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:55343400-55347400	Weak transcription	Esophagus	oesophagus
9	chr2:55343600-55347400	Weak transcription	NH-A	brain
10	chr2:55344200-55347200	Enhancers	Fetal Muscle Leg	muscle
11	chr2:55344400-55350200	Enhancers	Brain Cingulate Gyrus	brain
12	chr2:55344400-55350600	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr2:55344600-55347200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:55344600-55347400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr2:55344600-55348600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:55344600-55350000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:55345200-55349000	Enhancers	Primary hematopoietic stem cells	blood
18	chr2:55345400-55347200	Weak transcription	Right Ventricle	heart
19	chr2:55345400-55350200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr2:55345400-55350200	Enhancers	Brain Angular Gyrus	brain
21	chr2:55345600-55347200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:55345600-55347400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:55345600-55348000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr2:55345600-55348000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr2:55345600-55348200	Enhancers	Primary B cells from cord blood	blood
26	chr2:55345600-55348200	Enhancers	Primary B cells from peripheral blood	blood
27	chr2:55345600-55348400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:55345600-55350200	Enhancers	Brain Germinal Matrix	brain
29	chr2:55345600-55350200	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr2:55345600-55350400	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr2:55345800-55347600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:55345800-55347600	Enhancers	Osteobl	bone
33	chr2:55345800-55348400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr2:55345800-55348400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:55345800-55348400	Enhancers	Fetal Thymus	thymus
36	chr2:55345800-55348600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr2:55345800-55348600	Enhancers	Adipose Nuclei	Adipose
38	chr2:55345800-55348800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:55345800-55348800	Enhancers	NHDF-Ad	bronchial
40	chr2:55345800-55349000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:55346000-55347800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:55346000-55347800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:55346000-55347800	Enhancers	Spleen	Spleen
44	chr2:55346000-55348200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr2:55346000-55351600	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr2:55346200-55347200	Weak transcription	Fetal Brain Male	brain
47	chr2:55346200-55347200	Enhancers	Stomach Smooth Muscle	stomach
48	chr2:55346200-55350000	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr2:55346400-55347400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr2:55346400-55347800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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