Variant report

Variant	rs1888221
Chromosome Location	chr9:117778355-117778356
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:117424062..117425088-chr9:117776088..117778377,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230054	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10759753	0.81[AMR][1000 genomes]
rs10982496	0.93[ASN][1000 genomes]
rs1411456	0.81[TSI][hapmap];0.81[AMR][1000 genomes]
rs1411461	0.81[AMR][1000 genomes]
rs1537017	0.81[AMR][1000 genomes]
rs1547691	0.83[TSI][hapmap]
rs16932078	0.82[MEX][hapmap]
rs7027148	0.81[TSI][hapmap]
rs7030164	0.81[AMR][1000 genomes]
rs944223	0.83[TSI][hapmap]
rs944226	0.81[AMR][1000 genomes]
rs955450	0.81[TSI][hapmap]

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	nsv831696	chr9:117701582-117874150	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117771200-117783000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr9:117771400-117778600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr9:117771400-117784600	Weak transcription	HMEC	breast
4	chr9:117771800-117779000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr9:117773400-117803200	Weak transcription	Esophagus	oesophagus
6	chr9:117773600-117787200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr9:117774400-117780400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:117774800-117783200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:117775000-117782200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:117775600-117780400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr9:117776400-117778600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr9:117776400-117784400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr9:117776400-117786000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr9:117776800-117778600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:117776800-117791600	Weak transcription	Fetal Lung	lung
16	chr9:117777000-117778400	Weak transcription	Colon Smooth Muscle	Colon
17	chr9:117777000-117780400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:117777000-117783200	Weak transcription	Fetal Muscle Leg	muscle
19	chr9:117777400-117778800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:117777400-117780000	Weak transcription	Osteobl	bone
21	chr9:117777400-117780600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:117777600-117782200	Enhancers	Rectal Smooth Muscle	rectum
23	chr9:117777800-117778800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr9:117777800-117780200	Weak transcription	NHDF-Ad	bronchial
25	chr9:117777800-117780600	Enhancers	Stomach Smooth Muscle	stomach
26	chr9:117778000-117778600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr9:117778000-117783200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr9:117778200-117778600	Enhancers	Cortex derived primary cultured neurospheres	brain

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