Variant report

Variant	rs72944667
Chromosome Location	chr1:86071749-86071750
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:86045532..86047930-chr1:86071624..86075132,3	MCF-7	breast:
2	chr1:86050411..86052188-chr1:86071339..86074227,2	MCF-7	breast:
3	chr1:86071671..86072280-chr1:86095942..86096727,2	MCF-7	breast:
4	chr1:86044508..86046493-chr1:86071384..86074227,2	K562	blood:
5	chr1:86044046..86050058-chr1:86065602..86074449,16	MCF-7	breast:
6	chr1:86044508..86046201-chr1:86070309..86072884,2	K562	blood:
7	chr1:86067788..86069598-chr1:86069646..86072509,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272691	Chromatin interaction
ENSG00000142871	Chromatin interaction

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

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

rs_ID	r²[population]
rs56845363	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57279034	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60377914	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61616564	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6682426	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944654	1.00[AMR][1000 genomes]
rs72944681	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72944701	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946607	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946610	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946626	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946649	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946658	1.00[AMR][1000 genomes]
rs72946661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946666	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72946671	1.00[AMR][1000 genomes]
rs72946698	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948631	1.00[AMR][1000 genomes]
rs72948655	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948657	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948683	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948687	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7517522	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	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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86048800-86081200	Weak transcription	Gastric	stomach
2	chr1:86064000-86072600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:86065200-86072000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:86066600-86077000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:86068000-86074600	Enhancers	Fetal Intestine Small	intestine
6	chr1:86068400-86072000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:86068400-86072400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:86068400-86074800	Enhancers	Fetal Intestine Large	intestine
9	chr1:86068800-86072000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:86068800-86072200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:86069000-86071800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:86069000-86072000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:86069000-86072600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:86070000-86076800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr1:86070600-86076600	Weak transcription	Fetal Stomach	stomach
16	chr1:86070800-86072600	Enhancers	HepG2	liver
17	chr1:86071000-86072000	Enhancers	Liver	Liver
18	chr1:86071200-86076600	Weak transcription	Fetal Lung	lung
19	chr1:86071200-86076800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:86071400-86071800	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr1:86071400-86071800	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr1:86071400-86072000	Enhancers	Fetal Kidney	kidney
23	chr1:86071400-86072000	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr1:86071400-86072600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr1:86071400-86072600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr1:86071400-86072600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:86071400-86072600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:86071400-86073200	Enhancers	Pancreas	Pancrea
29	chr1:86071400-86074200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:86071400-86074200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:86071400-86075000	Enhancers	HSMM	muscle
32	chr1:86071400-86075400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:86071600-86071800	Weak transcription	Small Intestine	intestine
34	chr1:86071600-86072000	Flanking Active TSS	A549	lung
35	chr1:86071600-86072600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:86071600-86073400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:86071600-86074400	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr1:86071600-86074600	Enhancers	HUVEC	blood vessel
39	chr1:86071600-86076600	Enhancers	NHDF-Ad	bronchial
40	chr1:86071600-86078800	Enhancers	NHLF	lung

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