Variant report

Variant	rs61886128
Chromosome Location	chr11:63632116-63632117
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63607750..63611534-chr11:63627673..63634127,5	MCF-7	breast:
2	chr11:63628759..63635867-chr11:63636847..63643133,8	K562	blood:
3	chr11:63628257..63633019-chr11:63633939..63639801,7	MCF-7	breast:
4	chr11:63630927..63632567-chr11:63633500..63636233,2	MCF-7	breast:
5	chr11:63631966..63634780-chr11:63636847..63639729,3	K562	blood:

Variant related genes	Relation type
ENSG00000072518	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10751001	0.94[EUR][1000 genomes]
rs10897456	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10897459	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11231623	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11231628	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11231643	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12418000	0.83[ASN][1000 genomes]
rs12786124	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12792726	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12793201	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12794404	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs224173	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2318126	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3019785	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3850943	0.93[EUR][1000 genomes]
rs4143327	0.81[ASN][1000 genomes]
rs449047	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs454474	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4963433	0.93[EUR][1000 genomes]
rs4980530	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7928919	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7939416	0.86[EUR][1000 genomes]
rs928948	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv1839119	chr11:63615554-63680052	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 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	chr11:63610200-63633200	Weak transcription	Fetal Brain Male	brain
2	chr11:63613200-63632400	Weak transcription	Fetal Brain Female	brain
3	chr11:63613200-63633000	Weak transcription	HSMM	muscle
4	chr11:63615800-63633200	Weak transcription	HMEC	breast
5	chr11:63615800-63634800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:63615800-63636000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:63615800-63636000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:63615800-63636000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:63619000-63632600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:63619200-63638000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:63619400-63639400	Weak transcription	Ovary	ovary
12	chr11:63619600-63633000	Weak transcription	Colon Smooth Muscle	Colon
13	chr11:63619600-63633000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:63619600-63634000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:63619600-63636000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:63619600-63636000	Weak transcription	HSMMtube	muscle
17	chr11:63619600-63639200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:63622800-63633000	Weak transcription	Fetal Lung	lung
19	chr11:63626400-63633000	Weak transcription	Fetal Heart	heart
20	chr11:63626400-63637800	Weak transcription	NH-A	brain
21	chr11:63626800-63632800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:63626800-63633000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:63626800-63633200	Strong transcription	Fetal Stomach	stomach
24	chr11:63626800-63636000	Weak transcription	Psoas Muscle	Psoas
25	chr11:63627000-63633200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr11:63627200-63633000	Weak transcription	Right Atrium	heart
27	chr11:63627400-63632600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:63627400-63634400	Weak transcription	Right Ventricle	heart
29	chr11:63628800-63644200	Genic enhancers	Fetal Intestine Small	intestine
30	chr11:63629000-63633200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr11:63629000-63633200	Strong transcription	Fetal Muscle Leg	muscle
32	chr11:63629600-63632600	Strong transcription	Left Ventricle	heart
33	chr11:63629600-63638800	Enhancers	Stomach Mucosa	stomach
34	chr11:63629800-63634200	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr11:63629800-63635600	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr11:63629800-63636200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr11:63630000-63633000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr11:63630000-63633200	Weak transcription	NHEK	skin
39	chr11:63630000-63633400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr11:63630000-63640000	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr11:63630200-63636800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr11:63630400-63633200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:63630600-63632400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:63630600-63632800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:63630600-63633000	Weak transcription	Colonic Mucosa	Colon
46	chr11:63630600-63636000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr11:63630600-63636000	Weak transcription	NHDF-Ad	bronchial
48	chr11:63630600-63642200	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr11:63630800-63632400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr11:63630800-63632400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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