Variant report

Variant	rs12098237
Chromosome Location	chr1:95642562-95642563
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:95579611..95582560-chr1:95641374..95643709,2	K562	blood:
2	chr1:95639912..95642641-chr1:95643729..95646097,3	K562	blood:
3	chr1:95581060..95583945-chr1:95641189..95642874,2	K562	blood:
4	chr1:95636287..95639279-chr1:95642296..95644526,3	K562	blood:

Variant related genes	Relation type
ENSG00000152078	Chromatin interaction
ENSG00000271092	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10458507	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10747465	1.00[AMR][1000 genomes]
rs10783000	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1336438	1.00[AMR][1000 genomes]
rs1998967	1.00[AMR][1000 genomes]
rs259358	1.00[AMR][1000 genomes]
rs59828565	1.00[AMR][1000 genomes]
rs613351	1.00[AMR][1000 genomes]
rs6593614	1.00[AMR][1000 genomes]
rs6593615	1.00[AMR][1000 genomes]
rs6593619	1.00[AMR][1000 genomes]
rs6659370	1.00[AMR][1000 genomes]
rs7366061	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7516500	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7540042	1.00[AMR][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:36 , 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	chr1:95639200-95643400	Strong transcription	Liver	Liver
26	chr1:95639600-95642800	Weak transcription	HSMMtube	muscle
27	chr1:95639800-95642600	Weak transcription	Fetal Lung	lung
28	chr1:95641000-95654200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:95641000-95662800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:95641200-95643600	Enhancers	Primary B cells from peripheral blood	blood
31	chr1:95641200-95663400	Weak transcription	A549	lung
32	chr1:95641400-95644800	Weak transcription	Adipose Nuclei	Adipose
33	chr1:95641600-95643400	Enhancers	Primary B cells from cord blood	blood
34	chr1:95641800-95644200	Weak transcription	K562	blood
35	chr1:95642200-95643000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:95642400-95642800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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