Variant report

Variant	rs72797535
Chromosome Location	chr2:55366379-55366380
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55343511..55346556-chr2:55364762..55366710,3	K562	blood:
2	chr2:55282373..55283908-chr2:55365419..55368090,2	K562	blood:
3	chr2:55272140..55279868-chr2:55356344..55371606,28	K562	blood:
4	chr2:55276278..55278501-chr2:55364337..55366872,2	MCF-7	breast:
5	chr2:55348151..55351160-chr2:55366268..55368623,3	K562	blood:
6	chr2:55275938..55279901-chr2:55364740..55369438,15	K562	blood:
7	chr2:55366338..55369324-chr2:55384110..55386041,3	K562	blood:
8	chr2:55356536..55358953-chr2:55366284..55369182,2	K562	blood:
9	chr2:55366215..55370313-chr2:55376970..55382641,6	K562	blood:
10	chr2:55366215..55370139-chr2:55381125..55383848,4	K562	blood:
11	chr2:55363727..55366585-chr7:158919602..158922581,2	K562	blood:
12	chr2:55275283..55277414-chr2:55365767..55368496,2	MCF-7	breast:

No data

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	0.90[ASN][1000 genomes]
rs11892071	0.89[EUR][1000 genomes]
rs4233958	0.90[ASN][1000 genomes]
rs4672022	0.90[ASN][1000 genomes]
rs55691469	0.98[EUR][1000 genomes]
rs55875262	0.92[EUR][1000 genomes]
rs56056614	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56073856	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56231606	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56285641	0.91[EUR][1000 genomes]
rs58680169	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6721769	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6721928	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731596	0.90[ASN][1000 genomes]
rs6745066	0.91[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	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72797515	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72797516	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72797517	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72797519	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72797522	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72797530	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72797534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72797536	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72797537	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7575639	0.90[ASN][1000 genomes]
rs7585618	0.90[ASN][1000 genomes]
rs9789426	0.92[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72797535	CLHC1	cis	Artery Tibial	GTEx

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55361400-55366400	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr2:55361400-55370200	Enhancers	Fetal Intestine Large	intestine
3	chr2:55361600-55368200	Weak transcription	Esophagus	oesophagus
4	chr2:55361800-55366800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr2:55361800-55366800	Weak transcription	Hela-S3	cervix
6	chr2:55361800-55367800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:55361800-55368000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:55361800-55368600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:55361800-55368800	Weak transcription	A549	lung
10	chr2:55361800-55373000	Weak transcription	HSMMtube	muscle
11	chr2:55361800-55378600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:55362000-55366600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:55362000-55366600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:55362200-55367600	Weak transcription	Dnd41	blood
15	chr2:55362200-55369000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:55362400-55368800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr2:55362800-55366600	Enhancers	Placenta	Placenta
18	chr2:55363000-55366400	Enhancers	Fetal Brain Male	brain
19	chr2:55363200-55366800	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr2:55363200-55367200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:55363200-55367800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr2:55363400-55366600	Enhancers	Fetal Lung	lung
23	chr2:55363600-55367200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:55363600-55368800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr2:55363800-55366800	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr2:55363800-55367200	Enhancers	Stomach Mucosa	stomach
27	chr2:55363800-55368600	Weak transcription	Pancreas	Pancrea
28	chr2:55363800-55370400	Enhancers	Duodenum Mucosa	Duodenum
29	chr2:55364000-55368600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr2:55364200-55366400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:55364200-55369000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr2:55364400-55366400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:55364600-55366400	Enhancers	Ovary	ovary
34	chr2:55364800-55367200	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr2:55364800-55367600	Weak transcription	Fetal Thymus	thymus
36	chr2:55364800-55369000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr2:55365000-55366600	Enhancers	Brain Substantia Nigra	brain
38	chr2:55365000-55367000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:55365200-55367000	Weak transcription	Gastric	stomach
40	chr2:55365200-55369000	Flanking Active TSS	K562	blood
41	chr2:55365200-55369200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:55365200-55381000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:55365400-55366400	Weak transcription	Lung	lung
44	chr2:55365400-55366800	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr2:55365400-55367600	Weak transcription	Fetal Intestine Small	intestine
46	chr2:55365600-55366400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:55365600-55366600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:55365600-55368200	Weak transcription	Right Atrium	heart
49	chr2:55365600-55378600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:55365800-55366800	Active TSS	Rectal Smooth Muscle	rectum

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