Variant report

Variant	rs12288247
Chromosome Location	chr11:64821067-64821068
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64820733..64823695-chr11:64836946..64838617,2	K562	blood:
2	chr11:64807871..64811209-chr11:64819025..64821229,4	MCF-7	breast:
3	chr11:64820908..64823761-chr11:64825294..64829321,4	K562	blood:
4	chr11:64820729..64822239-chr11:64829384..64831296,2	K562	blood:
5	chr11:64810649..64814377-chr11:64818779..64822031,5	K562	blood:
6	chr11:64819003..64820709-chr11:64820825..64822558,3	K562	blood:
7	chr11:64808319..64812889-chr11:64818537..64822434,8	MCF-7	breast:
8	chr11:64820335..64821845-chr11:64827193..64829359,2	MCF-7	breast:
9	chr11:64820818..64823298-chr11:64825294..64827858,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000168060	Chromatin interaction
ENSG00000168061	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11227112	0.90[YRI][hapmap]
rs12099121	0.90[YRI][hapmap]
rs12270532	0.90[YRI][hapmap]
rs12271615	1.00[ASW][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs12279247	0.87[AFR][1000 genomes]
rs12280476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12281324	0.90[YRI][hapmap]
rs12281698	0.90[YRI][hapmap]
rs12282348	1.00[ASW][hapmap]
rs12285030	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12291307	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12295393	0.90[YRI][hapmap]
rs35983251	0.95[AFR][1000 genomes]
rs3782095	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs56368078	0.87[AFR][1000 genomes]
rs57731342	0.87[AFR][1000 genomes]
rs7110646	0.92[AFR][1000 genomes]
rs7116674	0.91[LWK][hapmap]
rs7926131	0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs7933704	1.00[AMR][1000 genomes]
rs7935441	0.95[AFR][1000 genomes]
rs7936473	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][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	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897709	chr11:64772545-64870779	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv897710	chr11:64772545-64885445	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64813400-64821200	Weak transcription	Primary T cells from cord blood	blood
2	chr11:64813400-64824200	Weak transcription	HepG2	liver
3	chr11:64813800-64833200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:64814000-64827600	Weak transcription	Pancreas	Pancrea
5	chr11:64816000-64821200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr11:64816000-64821200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr11:64816000-64821200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr11:64816000-64821400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:64816200-64825800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr11:64816400-64821400	Weak transcription	Spleen	Spleen
11	chr11:64820000-64821600	Enhancers	Esophagus	oesophagus
12	chr11:64820200-64821200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:64820200-64821200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:64820200-64822600	Enhancers	Primary hematopoietic stem cells	blood
15	chr11:64820400-64821200	Enhancers	GM12878-XiMat	blood
16	chr11:64820400-64822600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:64820600-64822400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr11:64820800-64822000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:64820800-64822200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr11:64820800-64822400	Enhancers	Primary B cells from cord blood	blood
21	chr11:64820800-64822400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr11:64821000-64821400	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr11:64821000-64821600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr11:64821000-64821600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr11:64821000-64822000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:64821000-64822000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:64821000-64822200	Enhancers	Primary B cells from peripheral blood	blood
28	chr11:64821000-64822200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:64821000-64822200	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr11:64821000-64822200	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr11:64821000-64822400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:64821000-64822400	Enhancers	Fetal Intestine Large	intestine
33	chr11:64821000-64822400	Enhancers	Fetal Intestine Small	intestine
34	chr11:64821000-64822400	Enhancers	Fetal Thymus	thymus

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