Variant report

Variant	rs60395535
Chromosome Location	chr11:66532970-66532971
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66531006..66534192-chr11:66534200..66538203,4	K562	blood:
2	chr11:66508922..66512626-chr11:66532752..66535976,6	MCF-7	breast:
3	chr11:66382727..66385338-chr11:66531188..66533920,2	MCF-7	breast:
4	chr11:66531934..66534799-chr11:66536564..66539469,2	MCF-7	breast:
5	chr11:66528906..66530759-chr11:66532545..66534201,2	MCF-7	breast:
6	chr11:66531067..66535329-chr11:66536471..66539126,4	K562	blood:

Variant related genes	Relation type
ENSG00000254984	Chromatin interaction
ENSG00000213409	Chromatin interaction
ENSG00000173715	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000239306	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11227596	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3782079	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs477335	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs478807	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs479261	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs527550	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55662252	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55920871	0.83[EUR][1000 genomes]
rs563344	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56680801	0.82[AMR][1000 genomes]
rs56848911	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57206977	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57220229	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs573673	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs575797	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61088349	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs623022	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs639938	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs645307	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs648491	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs744465	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs896437	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv897790	chr11:66414915-66626234	Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv897791	chr11:66442855-66533469	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv427891	chr11:66456140-66606701	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv468602	chr11:66468469-66634397	Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription 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	70 gene(s)	inside rSNPs	diseases
6	nsv555225	chr11:66468469-66634397	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer 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	70 gene(s)	inside rSNPs	diseases
7	nsv897793	chr11:66486143-66533469	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	esv1798614	chr11:66514847-66535177	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv516087	chr11:66516049-66579572	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66513200-66541200	Weak transcription	Aorta	Aorta
2	chr11:66513200-66555000	Weak transcription	Pancreas	Pancrea
3	chr11:66513400-66540800	Weak transcription	Spleen	Spleen
4	chr11:66513400-66547800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr11:66513400-66606800	Weak transcription	Brain Angular Gyrus	brain
6	chr11:66513600-66538800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:66513800-66539800	Weak transcription	GM12878-XiMat	blood
8	chr11:66515400-66535800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:66516600-66542200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr11:66516800-66535000	Weak transcription	HMEC	breast
11	chr11:66516800-66535200	Weak transcription	Fetal Brain Male	brain
12	chr11:66517400-66535200	Weak transcription	Osteobl	bone
13	chr11:66524000-66540600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:66524000-66542200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr11:66524200-66534000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:66525400-66535000	Weak transcription	A549	lung
17	chr11:66525600-66538400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:66526000-66533200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:66526400-66541400	Weak transcription	Small Intestine	intestine
20	chr11:66526600-66549800	Weak transcription	Lung	lung
21	chr11:66527000-66540200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr11:66527000-66574200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr11:66527000-66595600	Weak transcription	HSMM	muscle
24	chr11:66527200-66539600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr11:66527400-66571600	Weak transcription	Primary T cells from cord blood	blood
26	chr11:66527800-66539600	Weak transcription	Adipose Nuclei	Adipose
27	chr11:66528000-66534400	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr11:66529200-66534200	Strong transcription	Fetal Brain Female	brain
29	chr11:66529400-66540400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr11:66529400-66541000	Weak transcription	Dnd41	blood
31	chr11:66529600-66533800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr11:66529800-66542000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr11:66530000-66559000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr11:66530000-66571400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr11:66530000-66605400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:66530200-66535000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:66530200-66540800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr11:66530200-66549800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:66530200-66556000	Weak transcription	Gastric	stomach
40	chr11:66530200-66582400	Weak transcription	HUVEC	blood vessel
41	chr11:66530400-66536200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr11:66530600-66534200	Weak transcription	NHEK	skin
43	chr11:66530600-66551200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:66530600-66555800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:66530600-66575200	Weak transcription	Esophagus	oesophagus
46	chr11:66530600-66600000	Weak transcription	Fetal Muscle Leg	muscle
47	chr11:66530800-66581800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr11:66531000-66534800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:66531000-66535200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr11:66531000-66572800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links