Variant report

Variant	rs61886130
Chromosome Location	chr11:63633594-63633595
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr11:63633454-63634335	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

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	chr11:63604982..63606649-chr11:63633551..63637040,3	K562	blood:
4	chr11:63589614..63591449-chr11:63633578..63635486,2	K562	blood:
5	chr11:63631966..63634780-chr11:63636847..63639729,3	K562	blood:

No data

Variant related genes	Relation type
MARK2	TF binding region
ENSG00000072518	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs61884665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61884667	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61884668	1.00[AFR][1000 genomes]
rs61884695	1.00[AFR][1000 genomes]
rs61884696	1.00[AFR][1000 genomes]
rs61886127	1.00[AFR][1000 genomes]
rs61886129	1.00[AMR][1000 genomes];1.00[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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63615800-63634800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr11:63615800-63636000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:63615800-63636000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:63615800-63636000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:63619200-63638000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:63619400-63639400	Weak transcription	Ovary	ovary
7	chr11:63619600-63634000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:63619600-63636000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:63619600-63636000	Weak transcription	HSMMtube	muscle
10	chr11:63619600-63639200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:63626400-63637800	Weak transcription	NH-A	brain
12	chr11:63626800-63636000	Weak transcription	Psoas Muscle	Psoas
13	chr11:63627400-63634400	Weak transcription	Right Ventricle	heart
14	chr11:63628800-63644200	Genic enhancers	Fetal Intestine Small	intestine
15	chr11:63629600-63638800	Enhancers	Stomach Mucosa	stomach
16	chr11:63629800-63634200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr11:63629800-63635600	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr11:63629800-63636200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr11:63630000-63640000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr11:63630200-63636800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr11:63630600-63636000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr11:63630600-63636000	Weak transcription	NHDF-Ad	bronchial
23	chr11:63630600-63642200	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr11:63630800-63634200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr11:63630800-63634400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr11:63630800-63634400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:63630800-63634600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:63630800-63634800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:63630800-63635600	Weak transcription	HUVEC	blood vessel
30	chr11:63630800-63636000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:63630800-63636000	Weak transcription	Brain Germinal Matrix	brain
32	chr11:63630800-63636000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr11:63630800-63637000	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr11:63630800-63637400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr11:63630800-63637600	Weak transcription	Aorta	Aorta
36	chr11:63630800-63639400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:63630800-63641600	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr11:63631000-63634600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:63631200-63635800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:63631400-63634400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:63632000-63633600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr11:63632200-63637400	Enhancers	Primary T cells fromperipheralblood	blood
43	chr11:63632400-63633600	Genic enhancers	Primary B cells from cord blood	blood
44	chr11:63632400-63633800	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr11:63632400-63634600	Enhancers	Liver	Liver
46	chr11:63632400-63635400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:63632400-63635400	Strong transcription	Hela-S3	cervix
48	chr11:63632400-63636000	Enhancers	Thymus	Thymus
49	chr11:63632400-63637000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr11:63632400-63638800	Genic enhancers	Fetal Thymus	thymus

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