Variant report

Variant	rs2133548
Chromosome Location	chr11:63747099-63747100
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63684138..63686895-chr11:63746752..63748392,2	K562	blood:
2	chr11:63745696..63748680-chr11:63932850..63935107,2	MCF-7	breast:
3	chr11:63746212..63747961-chr11:63952768..63954419,2	MCF-7	breast:
4	chr11:63744148..63748440-chr11:63764660..63767519,3	K562	blood:
5	chr11:63742451..63744007-chr11:63744491..63747148,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167771	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000133315	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10897460	1.00[JPT][hapmap]
rs11822339	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11827620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12099085	1.00[JPT][hapmap]
rs12271959	1.00[JPT][hapmap]
rs1392118	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2133547	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs320110	1.00[JPT][hapmap]
rs320112	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs320115	1.00[JPT][hapmap]
rs320117	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs320124	0.95[ASN][1000 genomes]
rs320150	1.00[YRI][hapmap]
rs320157	1.00[YRI][hapmap]
rs320158	1.00[YRI][hapmap]
rs56781057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57899119	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs59818390	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60791209	0.82[ASN][1000 genomes]
rs61141225	0.82[ASN][1000 genomes]
rs6591831	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6591832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7106236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7113021	1.00[AFR][1000 genomes]
rs7127354	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7130187	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73496067	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73496068	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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
14	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63743000-63753000	Weak transcription	Aorta	Aorta
2	chr11:63744000-63753000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr11:63744000-63753000	Weak transcription	Fetal Kidney	kidney
4	chr11:63744000-63753000	Weak transcription	Small Intestine	intestine
5	chr11:63744200-63747200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:63744200-63749000	Weak transcription	Primary B cells from cord blood	blood
7	chr11:63744200-63749600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:63744200-63749800	Weak transcription	Primary T cells from cord blood	blood
9	chr11:63744200-63749800	Weak transcription	NHDF-Ad	bronchial
10	chr11:63744200-63753000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr11:63744200-63753000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:63744400-63747200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:63744400-63749000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr11:63744400-63749800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:63744400-63749800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:63744400-63750400	Strong transcription	Fetal Intestine Small	intestine
17	chr11:63744400-63752000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr11:63744400-63753000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:63744400-63753000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:63744400-63753000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr11:63744400-63753000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr11:63744400-63753000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:63744400-63753000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr11:63744400-63753000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:63744400-63753000	Weak transcription	Brain Substantia Nigra	brain
26	chr11:63744400-63753000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr11:63744400-63753000	Weak transcription	Fetal Brain Male	brain
28	chr11:63744400-63753000	Weak transcription	Fetal Intestine Large	intestine
29	chr11:63744400-63753000	Weak transcription	Fetal Lung	lung
30	chr11:63744400-63753000	Weak transcription	Psoas Muscle	Psoas
31	chr11:63744400-63753000	Weak transcription	HSMMtube	muscle
32	chr11:63744400-63753000	Weak transcription	HUVEC	blood vessel
33	chr11:63744400-63753000	Weak transcription	Osteobl	bone
34	chr11:63744400-63753400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr11:63744600-63747200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:63744600-63749000	Weak transcription	NH-A	brain
37	chr11:63744600-63753000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr11:63744800-63747200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:63744800-63749800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:63745000-63747200	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr11:63745000-63753000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr11:63745200-63749000	Strong transcription	Fetal Muscle Leg	muscle
43	chr11:63745200-63753000	Weak transcription	K562	blood
44	chr11:63745800-63747200	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr11:63745800-63747200	Strong transcription	Thymus	Thymus
46	chr11:63746000-63747200	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr11:63746000-63747200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:63746000-63747200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:63746000-63747200	Genic enhancers	Brain Inferior Temporal Lobe	brain
50	chr11:63746000-63747200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland

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