Variant report

Variant	rs11601228
Chromosome Location	chr11:63730310-63730311
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:62607799..62609460-chr11:63729249..63731107,2	MCF-7	breast:
2	chr11:63729806..63732983-chr11:63741793..63744357,3	K562	blood:
3	chr11:63730228..63732095-chr11:63736862..63738588,2	MCF-7	breast:
4	chr11:63706203..63707851-chr11:63730134..63732864,2	K562	blood:
5	chr11:63727931..63732327-chr11:63736906..63740363,4	K562	blood:
6	chr11:63727872..63730368-chr11:63752285..63755154,2	MCF-7	breast:
7	chr11:63730125..63732810-chr11:63733546..63735621,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167770	Chromatin interaction
ENSG00000207200	Chromatin interaction
ENSG00000176340	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000110583	Chromatin interaction
ENSG00000256100	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10751004	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10792424	0.95[EUR][1000 genomes]
rs10897464	0.92[EUR][1000 genomes]
rs10897466	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10897467	0.85[EUR][1000 genomes]
rs10897468	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10897469	0.81[EUR][1000 genomes]
rs10897470	0.84[EUR][1000 genomes]
rs11231646	0.80[EUR][1000 genomes]
rs11231653	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11231655	0.80[EUR][1000 genomes]
rs11231657	0.86[AFR][1000 genomes]
rs11231659	0.85[AFR][1000 genomes]
rs11231660	0.83[AFR][1000 genomes]
rs11231662	0.84[EUR][1000 genomes]
rs11231663	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11231664	0.84[EUR][1000 genomes]
rs11231670	0.84[EUR][1000 genomes]
rs11231671	0.84[EUR][1000 genomes]
rs11600062	0.83[EUR][1000 genomes]
rs11607028	0.92[EUR][1000 genomes]
rs12417157	0.82[EUR][1000 genomes]
rs12417507	0.81[EUR][1000 genomes]
rs12421757	0.81[EUR][1000 genomes]
rs12790749	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12797540	0.81[EUR][1000 genomes]
rs12798491	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12800703	0.84[EUR][1000 genomes]
rs12808604	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1386346	0.94[EUR][1000 genomes]
rs1684950	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1783964	0.97[EUR][1000 genomes]
rs2129467	0.84[EUR][1000 genomes]
rs2508584	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3019782	0.97[EUR][1000 genomes]
rs320121	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs320156	0.95[EUR][1000 genomes]
rs34134698	0.83[EUR][1000 genomes]
rs35492216	0.92[EUR][1000 genomes]
rs3740636	0.92[EUR][1000 genomes]
rs3740637	0.81[EUR][1000 genomes]
rs4426138	0.94[EUR][1000 genomes]
rs479975	0.83[EUR][1000 genomes]
rs481835	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs483340	0.95[EUR][1000 genomes]
rs487540	0.95[EUR][1000 genomes]
rs488082	0.95[EUR][1000 genomes]
rs492357	0.84[EUR][1000 genomes]
rs4980499	0.81[EUR][1000 genomes]
rs4980500	0.81[EUR][1000 genomes]
rs4980501	0.81[EUR][1000 genomes]
rs4980512	0.92[EUR][1000 genomes]
rs4980516	0.95[EUR][1000 genomes]
rs4980517	0.83[EUR][1000 genomes]
rs499118	0.95[EUR][1000 genomes]
rs500493	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs502858	0.95[EUR][1000 genomes]
rs504060	0.83[EUR][1000 genomes]
rs504314	0.86[EUR][1000 genomes]
rs509701	0.81[EUR][1000 genomes]
rs523586	0.80[AMR][1000 genomes]
rs528927	0.90[EUR][1000 genomes]
rs529915	0.97[EUR][1000 genomes]
rs539432	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs553724	0.95[EUR][1000 genomes]
rs562865	0.94[EUR][1000 genomes]
rs567386	0.95[EUR][1000 genomes]
rs578295	0.95[EUR][1000 genomes]
rs579669	0.81[EUR][1000 genomes]
rs58341870	0.83[AFR][1000 genomes]
rs6591830	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs709594	0.95[EUR][1000 genomes]
rs7111130	0.82[EUR][1000 genomes]
rs728919	0.92[EUR][1000 genomes]
rs7926608	0.85[EUR][1000 genomes]
rs7928990	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7936614	0.85[EUR][1000 genomes]
rs7938498	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7942318	0.95[EUR][1000 genomes]
rs7951529	0.92[EUR][1000 genomes]
rs9943682	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63713400-63733800	Weak transcription	Right Atrium	heart
2	chr11:63724200-63732600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr11:63724200-63733200	Weak transcription	Brain Hippocampus Middle	brain
4	chr11:63724200-63734800	Weak transcription	Ovary	ovary
5	chr11:63725400-63732600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:63727200-63730400	Enhancers	Fetal Thymus	thymus
7	chr11:63727200-63730600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr11:63727400-63730400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:63727400-63730600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:63727600-63730600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr11:63727600-63730600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:63728200-63730400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr11:63728200-63730600	Enhancers	Fetal Muscle Leg	muscle
14	chr11:63728200-63731400	Enhancers	GM12878-XiMat	blood
15	chr11:63728400-63730400	Enhancers	Fetal Stomach	stomach
16	chr11:63728400-63730400	Enhancers	HSMM	muscle
17	chr11:63728400-63730800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:63729200-63730600	Enhancers	Fetal Muscle Trunk	muscle
19	chr11:63729200-63736600	Weak transcription	K562	blood
20	chr11:63729200-63738200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr11:63729600-63730400	Enhancers	Fetal Intestine Large	intestine
22	chr11:63729600-63732400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:63729600-63732600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:63729600-63741600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:63729800-63730600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:63729800-63732400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:63730200-63732200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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