Variant report

Variant	rs72654246
Chromosome Location	chr9:22113928-22113929
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:22113925..22116012-chr9:22117761..22119700,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTAP-1	chr9:22112761-22118822	NONHSAT130433

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10217720	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16905635	0.91[AMR][1000 genomes]
rs16905644	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66735603	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72654222	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72654298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73448370	0.83[AMR][1000 genomes]
rs7855190	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7869527	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529609	chr9:21708371-22537069	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv8426	chr9:21763810-22176200	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv531617	chr9:21985057-22809676	Genic enhancers Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 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	chr9:22097800-22122400	Weak transcription	Dnd41	blood
2	chr9:22104600-22116600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr9:22105800-22114000	Weak transcription	Colonic Mucosa	Colon
4	chr9:22105800-22117400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr9:22106600-22117600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:22107600-22116800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr9:22107600-22117200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:22109000-22117600	Weak transcription	Adipose Nuclei	Adipose
9	chr9:22111400-22116200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:22112000-22114000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:22112000-22114600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr9:22112200-22114200	Enhancers	Fetal Intestine Large	intestine
13	chr9:22112400-22114400	Weak transcription	HSMMtube	muscle
14	chr9:22112400-22114600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:22112400-22115000	Weak transcription	Hela-S3	cervix
16	chr9:22112400-22116400	Weak transcription	HUVEC	blood vessel
17	chr9:22112400-22116600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr9:22112400-22116600	Weak transcription	HSMM	muscle
19	chr9:22112400-22117400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr9:22112600-22114400	Weak transcription	NHDF-Ad	bronchial
21	chr9:22112600-22114600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr9:22112600-22114600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr9:22112600-22114800	Weak transcription	Osteobl	bone
24	chr9:22112600-22115000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:22112600-22115000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr9:22112600-22116400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:22112600-22117600	Weak transcription	HMEC	breast
28	chr9:22112800-22114600	Enhancers	Fetal Intestine Small	intestine
29	chr9:22112800-22117800	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr9:22113000-22114200	Enhancers	Duodenum Mucosa	Duodenum
31	chr9:22113000-22114400	Weak transcription	NH-A	brain
32	chr9:22113200-22114400	Weak transcription	NHLF	lung
33	chr9:22113400-22119800	Weak transcription	Small Intestine	intestine
34	chr9:22113600-22115000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr9:22113800-22114000	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr9:22113800-22117400	Weak transcription	Stomach Mucosa	stomach

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