Variant report

Variant	rs72944662
Chromosome Location	chr1:86065076-86065077
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:86043937..86050216-chr1:86058297..86066765,12	K562	blood:
2	chr1:86046008..86048463-chr1:86063364..86065472,5	MCF-7	breast:
3	chr1:86045233..86051336-chr1:86057804..86069814,19	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYR61-1	chr1:86064958-86065112	FPKM1_group_971_transcript_1

Variant related genes	Relation type
ENSG00000272691	Chromatin interaction
ENSG00000142871	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs60205048	0.83[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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86048800-86081200	Weak transcription	Gastric	stomach
2	chr1:86049000-86068400	Weak transcription	Psoas Muscle	Psoas
3	chr1:86053800-86071400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:86062600-86065200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:86063000-86069400	Weak transcription	Fetal Lung	lung
6	chr1:86063600-86068000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:86063800-86065200	Enhancers	A549	lung
8	chr1:86063800-86065800	Enhancers	Colon Smooth Muscle	Colon
9	chr1:86064000-86072600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:86064400-86065200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:86064400-86065200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:86064600-86065200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:86064600-86065200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:86064600-86065600	Enhancers	Fetal Brain Male	brain
15	chr1:86064600-86065600	Enhancers	Fetal Stomach	stomach
16	chr1:86064800-86065200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:86064800-86065200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:86064800-86065200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:86064800-86065400	Enhancers	Rectal Smooth Muscle	rectum
20	chr1:86064800-86065800	Enhancers	Stomach Smooth Muscle	stomach
21	chr1:86064800-86066000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:86064800-86066000	Enhancers	Aorta	Aorta
23	chr1:86065000-86065200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr1:86065000-86065400	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr1:86065000-86065400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr1:86065000-86071600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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