Variant report

Variant	rs2993965
Chromosome Location	chr9:97321765-97321766
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	chr9:97321525..97323509-chr9:97323790..97326441,2	MCF-7	breast:
2	chr9:97315622..97318478-chr9:97321080..97323173,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231806	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1536859	1.00[AFR][1000 genomes]
rs2679606	1.00[AFR][1000 genomes]
rs2772015	0.88[EUR][1000 genomes]
rs2790389	1.00[AFR][1000 genomes]
rs2987884	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2987899	1.00[AFR][1000 genomes]
rs507172	0.85[EUR][1000 genomes]
rs544467	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs639498	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs667424	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs679726	0.81[EUR][1000 genomes]
rs7044650	1.00[AFR][1000 genomes]
rs781648	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761545	chr9:97025298-97356950	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1041195	chr9:97054795-97402378	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	esv1840205	chr9:97202200-97366400	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv893595	chr9:97268182-97330693	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv893596	chr9:97321172-97598966	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97317200-97325400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:97317200-97354000	Weak transcription	Gastric	stomach
3	chr9:97317600-97325200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr9:97317600-97328600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr9:97317800-97325400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr9:97318200-97324400	Weak transcription	A549	lung
7	chr9:97318200-97327200	Weak transcription	Hela-S3	cervix
8	chr9:97318200-97332000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:97318600-97325400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:97318800-97322400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr9:97318800-97326200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:97318800-97326600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr9:97318800-97331600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr9:97319200-97321800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr9:97319200-97331800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr9:97320400-97325600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr9:97320800-97330600	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr9:97321000-97322400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr9:97321000-97322800	Strong transcription	Liver	Liver
20	chr9:97321000-97322800	Strong transcription	Skeletal Muscle Male	skeletal muscle
21	chr9:97321000-97325800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:97321000-97326000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr9:97321200-97323000	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr9:97321200-97323400	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr9:97321200-97324200	Strong transcription	HepG2	liver
26	chr9:97321600-97322800	Strong transcription	HUES64 Cell Line	embryonic stem cell

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