Variant report

Variant	rs9943682
Chromosome Location	chr11:63744314-63744315
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63714375..63717341-chr11:63743522..63745649,2	K562	blood:
2	chr11:63719230..63721081-chr11:63742511..63745293,2	K562	blood:
3	chr11:63743504..63745731-chr11:63895376..63898316,2	K562	blood:
4	chr11:63744148..63748440-chr11:63764660..63767519,3	K562	blood:
5	chr11:63739151..63744415-chr11:63752010..63756596,9	MCF-7	breast:
6	chr11:63683426..63687637-chr11:63739381..63744575,6	K562	blood:
7	chr11:63744148..63746964-chr11:63765815..63767519,2	K562	blood:

Variant related genes	Relation type
ENSG00000167771	Chromatin interaction
ENSG00000167770	Chromatin interaction
ENSG00000133315	Chromatin interaction
ENSG00000110583	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10751004	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10792424	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10897464	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10897466	0.88[EUR][1000 genomes]
rs10897468	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11231646	0.81[AMR][1000 genomes]
rs11231653	0.87[EUR][1000 genomes]
rs11601228	0.90[EUR][1000 genomes]
rs11607028	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12790749	0.92[EUR][1000 genomes]
rs12798491	0.87[EUR][1000 genomes]
rs12808604	0.93[EUR][1000 genomes]
rs1386346	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1684950	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1783964	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2508584	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3019782	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs320121	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs320156	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35492216	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3740636	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4426138	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs481835	0.91[EUR][1000 genomes]
rs483340	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs487540	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs488082	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4980512	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4980516	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs499118	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs500493	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs502858	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs504314	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs528927	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs529915	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs539432	0.91[EUR][1000 genomes]
rs553724	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs562865	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs567386	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs578295	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6591830	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs709594	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs728919	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7928990	0.89[EUR][1000 genomes]
rs7938498	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7942318	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7951529	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
7	nsv897639	chr11:63691049-63844683	Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	esv1849906	chr11:63719273-63880383	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv1042075	chr11:63732454-63813164	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	esv29993	chr11:63738642-63864211	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv897640	chr11:63744152-63835611	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv897641	chr11:63744152-63844683	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv897642	chr11:63744152-63866959	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63742600-63746800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:63743000-63744400	Flanking Active TSS	Brain Cingulate Gyrus	brain
3	chr11:63743000-63753000	Weak transcription	Aorta	Aorta
4	chr11:63743200-63744400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:63743200-63744400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:63743200-63744400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr11:63743200-63744400	Transcr. at gene 5' and 3'	Dnd41	blood
8	chr11:63743400-63744400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:63743400-63744400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:63743400-63744400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:63743400-63744400	Genic enhancers	Primary T cells fromperipheralblood	blood
12	chr11:63743400-63744400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:63743400-63744400	Genic enhancers	Liver	Liver
14	chr11:63743400-63744400	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
15	chr11:63743400-63744400	Transcr. at gene 5' and 3'	Brain Inferior Temporal Lobe	brain
16	chr11:63743400-63744400	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
17	chr11:63743400-63744400	Flanking Active TSS	Fetal Heart	heart
18	chr11:63743400-63744400	Genic enhancers	Pancreas	Pancrea
19	chr11:63743400-63744400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
20	chr11:63743400-63744400	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
21	chr11:63743400-63744400	Genic enhancers	Spleen	Spleen
22	chr11:63743400-63744400	Transcr. at gene 5' and 3'	A549	lung
23	chr11:63743400-63744400	Flanking Active TSS	NH-A	brain
24	chr11:63743400-63744400	Transcr. at gene 5' and 3'	NHEK	skin
25	chr11:63743400-63744600	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr11:63743400-63744600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:63743600-63744400	Genic enhancers	H1 Cell Line	embryonic stem cell
28	chr11:63743600-63744400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
29	chr11:63743600-63744400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
30	chr11:63743600-63744400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:63743600-63744400	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
32	chr11:63743600-63744400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:63743600-63744400	Genic enhancers	Primary B cells from peripheral blood	blood
34	chr11:63743600-63744400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:63743600-63744400	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr11:63743600-63744400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:63743600-63744400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:63743600-63744400	Transcr. at gene 5' and 3'	Brain Angular Gyrus	brain
39	chr11:63743600-63744400	Genic enhancers	Fetal Lung	lung
40	chr11:63743600-63744400	Genic enhancers	Fetal Stomach	stomach
41	chr11:63743600-63744400	Genic enhancers	Fetal Thymus	thymus
42	chr11:63743600-63744400	Enhancers	Stomach Mucosa	stomach
43	chr11:63743600-63744400	Transcr. at gene 5' and 3'	K562	blood
44	chr11:63743800-63744400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:63743800-63744400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:63743800-63744400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:63743800-63744400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr11:63743800-63744400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr11:63743800-63744400	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr11:63743800-63744400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood

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