Variant report

Variant	rs7952270
Chromosome Location	chr11:63633137-63633138
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:63633000-63633150	GM12864	blood:	n/a	n/a

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	chr11:63631966..63634780-chr11:63636847..63639729,3	K562	blood:

Variant related genes	Relation type
MARK2	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10897457	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231605	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231615	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231619	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231620	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231621	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11231630	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231674	1.00[CHB][hapmap]
rs1188017	1.00[CHB][hapmap]
rs2036271	0.84[TSI][hapmap]
rs3850942	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs530399	1.00[CHB][hapmap]
rs540741	1.00[CHB][hapmap]
rs61886103	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886104	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886106	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886131	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886132	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886133	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61886134	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7933791	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949291	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs947843	1.00[CHB][hapmap]
rs958333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9735314	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	chr11:63610200-63633200	Weak transcription	Fetal Brain Male	brain
2	chr11:63615800-63633200	Weak transcription	HMEC	breast
3	chr11:63615800-63634800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr11:63615800-63636000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:63615800-63636000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr11:63615800-63636000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:63619200-63638000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:63619400-63639400	Weak transcription	Ovary	ovary
9	chr11:63619600-63634000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr11:63619600-63636000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:63619600-63636000	Weak transcription	HSMMtube	muscle
12	chr11:63619600-63639200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:63626400-63637800	Weak transcription	NH-A	brain
14	chr11:63626800-63633200	Strong transcription	Fetal Stomach	stomach
15	chr11:63626800-63636000	Weak transcription	Psoas Muscle	Psoas
16	chr11:63627000-63633200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr11:63627400-63634400	Weak transcription	Right Ventricle	heart
18	chr11:63628800-63644200	Genic enhancers	Fetal Intestine Small	intestine
19	chr11:63629000-63633200	Strong transcription	Fetal Muscle Trunk	muscle
20	chr11:63629000-63633200	Strong transcription	Fetal Muscle Leg	muscle
21	chr11:63629600-63638800	Enhancers	Stomach Mucosa	stomach
22	chr11:63629800-63634200	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr11:63629800-63635600	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr11:63629800-63636200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:63630000-63633200	Weak transcription	NHEK	skin
26	chr11:63630000-63633400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr11:63630000-63640000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr11:63630200-63636800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr11:63630400-63633200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:63630600-63636000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr11:63630600-63636000	Weak transcription	NHDF-Ad	bronchial
32	chr11:63630600-63642200	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr11:63630800-63633200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:63630800-63633200	Enhancers	Primary T cells from cord blood	blood
35	chr11:63630800-63633200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:63630800-63633200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:63630800-63633200	Weak transcription	Adipose Nuclei	Adipose
38	chr11:63630800-63633200	Weak transcription	Brain Angular Gyrus	brain
39	chr11:63630800-63633200	Weak transcription	Brain Substantia Nigra	brain
40	chr11:63630800-63633200	Weak transcription	A549	lung
41	chr11:63630800-63633200	Weak transcription	NHLF	lung
42	chr11:63630800-63633400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr11:63630800-63634200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr11:63630800-63634400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr11:63630800-63634400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:63630800-63634600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr11:63630800-63634800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:63630800-63635600	Weak transcription	HUVEC	blood vessel
49	chr11:63630800-63636000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:63630800-63636000	Weak transcription	Brain Germinal Matrix	brain

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