Variant report

Variant	rs12276264
Chromosome Location	chr11:59424688-59424689
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:59422509..59425773-chr11:59434045..59436546,4	K562	blood:
2	chr11:59420045..59421714-chr11:59422885..59424724,2	K562	blood:
3	chr11:59424083..59426966-chr11:59434094..59436638,2	MCF-7	breast:
4	chr11:59424561..59426606-chr11:59430205..59433871,3	K562	blood:
5	chr11:59411267..59414686-chr11:59422826..59425210,4	K562	blood:

Variant related genes	Relation type
ENSG00000166889	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11230007	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11820756	1.00[CHD][hapmap]
rs12275697	0.86[ASW][hapmap];1.00[MEX][hapmap];0.94[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12275857	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12275939	0.94[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279069	0.86[ASW][hapmap];1.00[MEX][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs12280801	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12281446	0.94[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12282534	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs12282585	0.86[ASW][hapmap];1.00[MEX][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs12283245	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12285516	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12287360	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12288523	0.84[ASW][hapmap]
rs12291105	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12292726	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17154234	1.00[MEX][hapmap]
rs2228289	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55861319	1.00[AMR][1000 genomes]
rs55924869	1.00[AMR][1000 genomes]
rs56198198	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57004175	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57174205	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58462134	1.00[AMR][1000 genomes]
rs60249922	1.00[AMR][1000 genomes]
rs7117032	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7129130	0.84[ASW][hapmap]
rs73484843	1.00[AMR][1000 genomes]
rs73484845	1.00[AMR][1000 genomes]
rs73484869	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73484872	0.80[AFR][1000 genomes]
rs73484887	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73486954	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73486999	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488817	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73488858	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7949552	0.86[ASW][hapmap];0.94[YRI][hapmap];0.80[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	esv1797571	chr11:59383323-59424688	Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv1797737	chr11:59383323-59424688	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv1802782	chr11:59383323-59448068	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv832172	chr11:59396407-59431115	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59395600-59434600	Weak transcription	Stomach Mucosa	stomach
2	chr11:59402200-59427000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr11:59402200-59432400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:59402200-59434000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:59402400-59427800	Strong transcription	Muscle Satellite Cultured Cells	--
6	chr11:59402400-59428200	Strong transcription	Primary T cells from cord blood	blood
7	chr11:59402600-59426800	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:59402600-59427200	Strong transcription	Primary hematopoietic stem cells	blood
9	chr11:59402600-59427400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr11:59402600-59427600	Strong transcription	Adipose Nuclei	Adipose
11	chr11:59402600-59427600	Strong transcription	GM12878-XiMat	blood
12	chr11:59402600-59428000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:59402600-59428000	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr11:59402600-59428400	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr11:59402600-59428400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr11:59402600-59428600	Strong transcription	Fetal Muscle Leg	muscle
17	chr11:59402600-59429000	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:59402600-59434000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:59402600-59434000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:59402600-59434200	Strong transcription	Fetal Muscle Trunk	muscle
21	chr11:59402600-59434400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:59402800-59426600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr11:59402800-59427000	Strong transcription	Ovary	ovary
24	chr11:59402800-59427200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:59402800-59427200	Strong transcription	HUVEC	blood vessel
26	chr11:59402800-59428000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr11:59402800-59428000	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr11:59402800-59428000	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr11:59402800-59428000	Strong transcription	Placenta	Placenta
30	chr11:59402800-59428400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:59402800-59428600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr11:59402800-59428800	Strong transcription	Thymus	Thymus
33	chr11:59402800-59429800	Strong transcription	Dnd41	blood
34	chr11:59402800-59431600	Strong transcription	Fetal Intestine Large	intestine
35	chr11:59402800-59434200	Strong transcription	Duodenum Mucosa	Duodenum
36	chr11:59402800-59434200	Strong transcription	Fetal Thymus	thymus
37	chr11:59402800-59434400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:59403000-59426600	Strong transcription	Brain Hippocampus Middle	brain
39	chr11:59403000-59427000	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr11:59403000-59427200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr11:59403000-59429200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:59403200-59429000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:59403200-59434600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:59403400-59427600	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr11:59403400-59430000	Strong transcription	Osteobl	bone
46	chr11:59403400-59434400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr11:59403400-59434400	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr11:59403600-59434600	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr11:59403800-59429600	Strong transcription	Brain Germinal Matrix	brain
50	chr11:59403800-59433200	Strong transcription	HMEC	breast

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