Variant report

Variant	rs60123355
Chromosome Location	chr9:22107613-22107614
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:22098016..22100676-chr9:22106122..22109084,4	MCF-7	breast:
2	chr9:22107143..22109663-chr9:22210637..22212832,3	MCF-7	breast:
3	chr9:22106343..22112134-chr9:22114356..22121456,14	MCF-7	breast:
4	chr9:22106947..22109176-chr9:22216532..22218954,2	MCF-7	breast:
5	chr9:22078947..22090885-chr9:22096375..22111093,52	MCF-7	breast:
6	chr9:21993263..21997117-chr9:22103044..22108269,7	MCF-7	breast:
7	chr9:22080093..22089919-chr9:22099951..22109614,29	MCF-7	breast:
8	chr9:22100911..22107878-chr9:22236967..22244514,15	MCF-7	breast:
9	chr9:22051697..22054295-chr9:22107294..22109558,2	MCF-7	breast:
10	chr9:22106526..22108088-chr9:22128827..22131086,2	MCF-7	breast:
11	chr9:22039593..22042094-chr9:22105940..22108380,2	MCF-7	breast:
12	chr9:21802397..21805194-chr9:22105576..22110033,4	MCF-7	breast:
13	chr9:22101484..22107036-chr9:22107375..22109985,6	MCF-7	breast:
14	chr9:22107525..22110347-chr9:22123401..22125908,2	MCF-7	breast:
15	chr9:22102906..22108968-chr9:22209587..22214559,10	MCF-7	breast:
16	chr9:22107221..22109848-chr9:22158958..22160499,2	MCF-7	breast:
17	chr9:22106401..22111630-chr9:22133940..22138604,9	MCF-7	breast:
18	chr9:22095565..22097696-chr9:22107137..22108980,2	MCF-7	breast:
19	chr9:22105576..22108969-chr9:22134312..22138270,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000099810	Chromatin interaction
ENSG00000266446	Chromatin interaction
ENSG00000147889	Chromatin interaction
ENSG00000240498	Chromatin interaction
ENSG00000264545	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs59995170	1.00[AFR][1000 genomes]
rs60601001	1.00[AFR][1000 genomes]
rs61650117	1.00[AFR][1000 genomes]
rs73438868	1.00[AFR][1000 genomes]
rs73441209	1.00[AFR][1000 genomes]
rs73441213	1.00[AFR][1000 genomes]
rs73441281	1.00[AFR][1000 genomes]
rs73441296	1.00[AFR][1000 genomes]
rs73441297	1.00[AFR][1000 genomes]
rs73441298	1.00[AFR][1000 genomes]
rs73443203	0.94[AFR][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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22097800-22122400	Weak transcription	Dnd41	blood
2	chr9:22101600-22109800	Enhancers	Fetal Intestine Large	intestine
3	chr9:22101600-22110000	Enhancers	Fetal Intestine Small	intestine
4	chr9:22104400-22108400	Weak transcription	Adipose Nuclei	Adipose
5	chr9:22104600-22116600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr9:22105000-22108000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:22105600-22108200	Weak transcription	NHDF-Ad	bronchial
8	chr9:22105800-22114000	Weak transcription	Colonic Mucosa	Colon
9	chr9:22105800-22117400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr9:22106400-22110000	Enhancers	Stomach Mucosa	stomach
11	chr9:22106600-22108000	Enhancers	Hela-S3	cervix
12	chr9:22106600-22108600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:22106600-22117600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:22106800-22108000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:22106800-22108000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr9:22106800-22108000	Enhancers	HMEC	breast
17	chr9:22106800-22108000	Enhancers	NHEK	skin
18	chr9:22106800-22108400	Enhancers	NH-A	brain
19	chr9:22106800-22108800	Enhancers	Duodenum Mucosa	Duodenum
20	chr9:22106800-22109200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:22107000-22107800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr9:22107000-22107800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr9:22107000-22107800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr9:22107000-22107800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr9:22107000-22107800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr9:22107000-22108000	Enhancers	Osteobl	bone
27	chr9:22107000-22108600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr9:22107000-22109000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr9:22107000-22109400	Enhancers	NHLF	lung
30	chr9:22107000-22110000	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr9:22107200-22107800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:22107200-22107800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr9:22107200-22107800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr9:22107200-22107800	Enhancers	HepG2	liver
35	chr9:22107200-22108400	Enhancers	Small Intestine	intestine
36	chr9:22107400-22107800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr9:22107400-22107800	Enhancers	HSMM	muscle
38	chr9:22107600-22107800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr9:22107600-22107800	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr9:22107600-22109000	Enhancers	HUVEC	blood vessel
41	chr9:22107600-22111000	Weak transcription	HSMMtube	muscle
42	chr9:22107600-22116800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr9:22107600-22117200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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