Variant report

Variant	rs72722168
Chromosome Location	chr1:95644202-95644203
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:95639360..95642284-chr1:95642912..95646289,4	K562	blood:
2	chr1:95639912..95642641-chr1:95643729..95646097,3	K562	blood:
3	chr1:95636287..95639279-chr1:95642296..95644526,3	K562	blood:
4	chr1:95633848..95638303-chr1:95643120..95646890,4	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1336437	1.00[EUR][1000 genomes]
rs72720295	1.00[EUR][1000 genomes]
rs72722107	1.00[EUR][1000 genomes]
rs72722127	1.00[EUR][1000 genomes]
rs72722131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72722140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72722148	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72722161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72722178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72723860	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv870669	chr1:95586773-95690269	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95592800-95661800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:95600000-95650200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr1:95623600-95649800	Weak transcription	Brain Angular Gyrus	brain
4	chr1:95629000-95649800	Weak transcription	Brain Anterior Caudate	brain
5	chr1:95630200-95644800	Weak transcription	Aorta	Aorta
6	chr1:95630200-95644800	Weak transcription	Fetal Stomach	stomach
7	chr1:95630200-95645400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:95630200-95649400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:95630600-95655200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:95630800-95644400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr1:95630800-95644800	Weak transcription	Brain Hippocampus Middle	brain
12	chr1:95634400-95673200	Weak transcription	Gastric	stomach
13	chr1:95634600-95644800	Weak transcription	Fetal Heart	heart
14	chr1:95634800-95653400	Weak transcription	Fetal Intestine Large	intestine
15	chr1:95634800-95661200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr1:95634800-95663800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:95635000-95649800	Weak transcription	HepG2	liver
18	chr1:95635800-95645400	Weak transcription	Fetal Intestine Small	intestine
19	chr1:95636200-95644400	Weak transcription	Fetal Brain Male	brain
20	chr1:95637800-95644400	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:95637800-95644800	Weak transcription	Left Ventricle	heart
22	chr1:95637800-95661200	Weak transcription	Pancreas	Pancrea
23	chr1:95638200-95665000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:95638400-95644400	Weak transcription	Ovary	ovary
25	chr1:95641000-95654200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:95641000-95662800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:95641200-95663400	Weak transcription	A549	lung
28	chr1:95641400-95644800	Weak transcription	Adipose Nuclei	Adipose
29	chr1:95642600-95645000	Weak transcription	Fetal Kidney	kidney
30	chr1:95642800-95644800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:95643000-95644400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:95643400-95644400	Weak transcription	Liver	Liver
33	chr1:95643400-95644800	Weak transcription	Fetal Lung	lung
34	chr1:95643600-95644600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr1:95644200-95644800	Genic enhancers	K562	blood

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