Variant report

Variant	rs7540042
Chromosome Location	chr1:95648832-95648833
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	chr1:95648047..95650221-chr1:95673861..95676187,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10458507	0.82[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10747465	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10783000	1.00[AMR][1000 genomes]
rs11165320	1.00[YRI][hapmap]
rs12098237	1.00[AMR][1000 genomes]
rs1336438	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1998967	0.83[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs259358	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59828565	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs613351	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6593614	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6593615	0.83[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6593619	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6659370	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6695720	0.81[AFR][1000 genomes]
rs7366061	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7516500	0.92[AFR][1000 genomes];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:28 , 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	chr1:95630200-95649400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:95630600-95655200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:95634400-95673200	Weak transcription	Gastric	stomach
8	chr1:95634800-95653400	Weak transcription	Fetal Intestine Large	intestine
9	chr1:95634800-95661200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:95634800-95663800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr1:95635000-95649800	Weak transcription	HepG2	liver
12	chr1:95637800-95661200	Weak transcription	Pancreas	Pancrea
13	chr1:95638200-95665000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:95641000-95654200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:95641000-95662800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:95641200-95663400	Weak transcription	A549	lung
17	chr1:95645000-95649600	Weak transcription	Liver	Liver
18	chr1:95645200-95651800	Weak transcription	Aorta	Aorta
19	chr1:95645200-95652800	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:95645400-95649600	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:95645400-95661200	Weak transcription	Psoas Muscle	Psoas
22	chr1:95645400-95662000	Weak transcription	Adipose Nuclei	Adipose
23	chr1:95645400-95663400	Weak transcription	Left Ventricle	heart
24	chr1:95645800-95649800	Weak transcription	Fetal Lung	lung
25	chr1:95645800-95649800	Weak transcription	Fetal Stomach	stomach
26	chr1:95645800-95657400	Weak transcription	Fetal Heart	heart
27	chr1:95647000-95649800	Weak transcription	K562	blood
28	chr1:95648800-95649000	Enhancers	Stomach Smooth Muscle	stomach

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