Variant report

Variant	rs1998967
Chromosome Location	chr1:95623072-95623073
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95613061..95615142-chr1:95621486..95623228,2	K562	blood:
2	chr1:95615610..95618991-chr1:95620635..95623291,3	K562	blood:

Variant related genes	Relation type
ENSG00000271092	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10458507	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10747465	1.00[AMR][1000 genomes]
rs10782998	0.80[AFR][1000 genomes]
rs10783000	1.00[AMR][1000 genomes]
rs11165320	0.90[AFR][1000 genomes]
rs12098237	1.00[AMR][1000 genomes]
rs1336438	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2391630	0.83[AFR][1000 genomes]
rs259358	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs4301674	0.85[AFR][1000 genomes]
rs59828565	1.00[AMR][1000 genomes]
rs613351	1.00[AMR][1000 genomes]
rs6593614	1.00[AMR][1000 genomes]
rs6593615	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6593619	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6659370	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs6695720	0.84[AFR][1000 genomes]
rs7365394	0.85[AFR][1000 genomes]
rs7366061	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7516500	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7517250	0.80[AFR][1000 genomes]
rs7526279	0.83[AFR][1000 genomes]
rs7532269	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs7540042	0.83[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs915502	0.85[AFR][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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95584000-95629400	Weak transcription	Aorta	Aorta
2	chr1:95585400-95636800	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:95592800-95634200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:95592800-95661800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:95598800-95633800	Weak transcription	Fetal Heart	heart
6	chr1:95600000-95650200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:95601800-95633600	Weak transcription	HepG2	liver
8	chr1:95602200-95628000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:95602800-95628800	Weak transcription	Adipose Nuclei	Adipose
10	chr1:95602800-95634200	Weak transcription	Left Ventricle	heart
11	chr1:95603000-95640800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:95604200-95630000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:95609000-95629000	Weak transcription	Fetal Intestine Small	intestine
14	chr1:95610600-95628200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:95611400-95628000	Weak transcription	Brain Anterior Caudate	brain
16	chr1:95611800-95630600	Weak transcription	A549	lung
17	chr1:95612400-95629600	Weak transcription	Fetal Intestine Large	intestine
18	chr1:95614800-95629200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:95615000-95628000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:95618400-95639200	Weak transcription	Colonic Mucosa	Colon
21	chr1:95618600-95637600	Weak transcription	Psoas Muscle	Psoas
22	chr1:95620200-95623200	Weak transcription	K562	blood
23	chr1:95622400-95624000	Strong transcription	Liver	Liver
24	chr1:95623000-95623600	Strong transcription	Brain Angular Gyrus	brain
25	chr1:95623000-95630000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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