Variant report

Variant	rs1335348
Chromosome Location	chr9:117960355-117960356
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:117953158..117955908-chr9:117957675..117960563,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1335347	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1537729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16932356	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16932361	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs16932366	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs16932367	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs7855498	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv615250	chr9:117768021-118012841	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv916912	chr9:117770039-118014140	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv831697	chr9:117860416-118023927	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv893769	chr9:117936903-117985886	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117930000-117964400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:117955600-117960400	Weak transcription	Fetal Stomach	stomach
3	chr9:117955600-117960400	Weak transcription	Spleen	Spleen
4	chr9:117955600-117969000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr9:117957000-117962800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:117957400-117960400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr9:117958600-117961200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:117959000-117960600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:117959000-117960600	Enhancers	Fetal Muscle Leg	muscle
10	chr9:117959200-117960400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr9:117959400-117960800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr9:117959400-117960800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr9:117959400-117960800	Enhancers	Fetal Kidney	kidney
14	chr9:117959400-117960800	Enhancers	Rectal Smooth Muscle	rectum
15	chr9:117959400-117961000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:117959400-117968600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:117959600-117960400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr9:117959600-117960800	Enhancers	Colon Smooth Muscle	Colon
19	chr9:117959600-117960800	Enhancers	Fetal Lung	lung
20	chr9:117959600-117961000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr9:117959800-117960800	Enhancers	NHDF-Ad	bronchial
22	chr9:117959800-117960800	Enhancers	Osteobl	bone
23	chr9:117960000-117960400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr9:117960000-117960600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr9:117960000-117960600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr9:117960000-117960800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr9:117960000-117960800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr9:117960000-117960800	Enhancers	HSMM	muscle
29	chr9:117960000-117960800	Enhancers	NHEK	skin
30	chr9:117960000-117960800	Enhancers	NHLF	lung
31	chr9:117960200-117960600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr9:117960200-117960600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr9:117960200-117960600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr9:117960200-117960600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr9:117960200-117960600	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr9:117960200-117960600	Enhancers	Stomach Smooth Muscle	stomach
37	chr9:117960200-117960600	Enhancers	HSMMtube	muscle
38	chr9:117960200-117960600	Enhancers	NH-A	brain
39	chr9:117960200-117960800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr9:117960200-117960800	Enhancers	HMEC	breast
41	chr9:117960200-117961600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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