Variant report

Variant	rs9678350
Chromosome Location	chr2:10687763-10687764
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	chr2:10584220..10586892-chr2:10686951..10688711,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12476576	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13024441	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34668084	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35431817	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35875315	0.82[ASN][1000 genomes]
rs4669592	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7585934	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7586055	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9678349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2756905	chr2:10595578-10688969	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2759025	chr2:10595578-10688969	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv833370	chr2:10625149-10785402	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv1009897	chr2:10627248-10751468	Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv873652	chr2:10627860-10688969	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv873653	chr2:10627860-10688969	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv873654	chr2:10655141-10698364	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv873655	chr2:10656284-10688969	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv873656	chr2:10661047-10688969	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv873659	chr2:10664481-10688969	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv873660	chr2:10665979-10688969	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv873661	chr2:10675549-10703476	Bivalent Enhancer Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv519963	chr2:10684391-10688969	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv525241	chr2:10684391-10703476	Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10684400-10688000	Weak transcription	Spleen	Spleen
2	chr2:10684600-10688600	Weak transcription	NH-A	brain
3	chr2:10686600-10688000	Enhancers	NHEK	skin
4	chr2:10686600-10688800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:10686800-10687800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:10686800-10687800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:10686800-10689200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:10686800-10689800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:10686800-10689800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr2:10687000-10688200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:10687000-10688400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:10687000-10689600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:10687000-10689800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:10687000-10691000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr2:10687200-10687800	Enhancers	Stomach Mucosa	stomach
16	chr2:10687200-10688400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr2:10687200-10688600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:10687200-10688600	Weak transcription	NHDF-Ad	bronchial
19	chr2:10687200-10688800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr2:10687200-10690000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:10687200-10690000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:10687200-10691400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr2:10687400-10689000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr2:10687600-10687800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:10687600-10688200	Enhancers	H9 Cell Line	embryonic stem cell
26	chr2:10687600-10688400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
27	chr2:10687600-10689000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
28	chr2:10687600-10689000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:10687600-10689800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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