Variant report

Variant	rs2632725
Chromosome Location	chr11:73688168-73688169
allele	A/T
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	POLR2A	chr11:73687386-73689032	K562	blood:	n/a	n/a
2	POLR2A	chr11:73687481-73688209	K562	blood:	n/a	n/a
3	POLR2A	chr11:73687901-73688170	GM12891	blood:	n/a	n/a
4	POLR2A	chr11:73687471-73688243	GM12892	blood:	n/a	n/a
5	POLR2A	chr11:73678522-73695046	PBDE	blood:	n/a	n/a
6	POLR2A	chr11:73687404-73688234	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:73687451-73690362	K562	blood:	n/a	n/a
8	POLR2A	chr11:73688166-73690420	GM12892	blood:	n/a	n/a
9	POLR2A	chr11:73687423-73695032	GM12891	blood:	n/a	n/a
10	POLR2A	chr11:73687516-73690467	K562	blood:	n/a	n/a
11	POLR2A	chr11:73687383-73690753	GM12892	blood:	n/a	n/a
12	POLR2A	chr11:73687413-73688204	GM12891	blood:	n/a	n/a
13	POLR2A	chr11:73687246-73688933	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:73687482-73688266	HL-60	blood:	n/a	n/a
15	POLR2A	chr11:73687509-73690180	GM18505	blood:	n/a	n/a
16	POLR2A	chr11:73687416-73688241	GM12891	blood:	n/a	n/a
17	POLR2A	chr11:73687349-73690362	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73586922..73589181-chr11:73687473..73690308,2	K562	blood:

Variant related genes	Relation type
UCP2	TF binding region
ENSG00000175575	Chromatin interaction
ENSG00000181924	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11549045	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12419308	1.00[GIH][hapmap]
rs17132534	0.85[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1792202	0.82[CEU][hapmap]
rs2735572	0.85[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs45467092	0.98[EUR][1000 genomes]
rs45523540	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45529235	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs45566236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45595943	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs625098	0.85[CEU][hapmap]
rs760206	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs760207	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	esv1827060	chr11:73670645-73694754	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv520299	chr11:73684294-73694754	Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73672800-73693200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:73675400-73692600	Weak transcription	Psoas Muscle	Psoas
3	chr11:73676400-73693200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:73676600-73691000	Weak transcription	Fetal Heart	heart
5	chr11:73682600-73689200	Genic enhancers	Primary B cells from cord blood	blood
6	chr11:73683200-73689800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:73683200-73690800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:73683400-73689800	Genic enhancers	Thymus	Thymus
9	chr11:73683600-73688200	Weak transcription	Colon Smooth Muscle	Colon
10	chr11:73684000-73690800	Genic enhancers	Primary B cells from peripheral blood	blood
11	chr11:73684000-73691000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr11:73684000-73691000	Weak transcription	HUVEC	blood vessel
13	chr11:73684200-73690000	Genic enhancers	Fetal Thymus	thymus
14	chr11:73684200-73691000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:73684400-73689600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:73684400-73690400	Strong transcription	Fetal Intestine Small	intestine
17	chr11:73684400-73690600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr11:73684400-73691200	Strong transcription	Fetal Stomach	stomach
19	chr11:73684600-73690800	Genic enhancers	Primary monocytes fromperipheralblood	blood
20	chr11:73684800-73692600	Weak transcription	Right Atrium	heart
21	chr11:73685000-73688200	Genic enhancers	Fetal Muscle Trunk	muscle
22	chr11:73685000-73688400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr11:73685000-73689800	Genic enhancers	GM12878-XiMat	blood
24	chr11:73685000-73690200	Strong transcription	Brain Hippocampus Middle	brain
25	chr11:73685000-73690800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:73685000-73691000	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr11:73685000-73691000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:73685000-73691200	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr11:73685000-73691200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:73685000-73691400	Genic enhancers	Fetal Muscle Leg	muscle
31	chr11:73685000-73691600	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr11:73685000-73693000	Weak transcription	NHDF-Ad	bronchial
33	chr11:73685200-73689200	Weak transcription	Fetal Kidney	kidney
34	chr11:73685200-73689400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:73685200-73689600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr11:73685200-73689800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:73685200-73690000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
38	chr11:73685200-73690200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:73685200-73691000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:73685200-73691000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr11:73685200-73692200	Weak transcription	Small Intestine	intestine
42	chr11:73685400-73689600	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr11:73685400-73689800	Strong transcription	Rectal Smooth Muscle	rectum
44	chr11:73685400-73690000	Strong transcription	Brain Germinal Matrix	brain
45	chr11:73685400-73690000	Strong transcription	Fetal Intestine Large	intestine
46	chr11:73685400-73690200	Strong transcription	Brain Anterior Caudate	brain
47	chr11:73685400-73690400	Strong transcription	Fetal Brain Female	brain
48	chr11:73685400-73690800	Strong transcription	A549	lung
49	chr11:73685400-73690800	Genic enhancers	K562	blood
50	chr11:73685400-73691000	Strong transcription	HUES64 Cell Line	embryonic stem cell

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