Variant report

Variant	rs12288952
Chromosome Location	chr11:87021730-87021731
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:87019923..87022315-chr11:87031348..87034093,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10047408	1.00[AMR][1000 genomes]
rs11235098	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235103	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235113	1.00[AMR][1000 genomes]
rs11235114	1.00[AMR][1000 genomes]
rs11235115	1.00[AMR][1000 genomes]
rs11235116	1.00[AMR][1000 genomes]
rs12270666	1.00[AMR][1000 genomes]
rs12275018	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12276332	1.00[AMR][1000 genomes]
rs12282494	1.00[AMR][1000 genomes]
rs12283625	0.94[AFR][1000 genomes]
rs12287172	1.00[AMR][1000 genomes]
rs12287886	1.00[AMR][1000 genomes]
rs12295935	1.00[AMR][1000 genomes]
rs17150123	1.00[AMR][1000 genomes]
rs3897610	1.00[AMR][1000 genomes]
rs9804477	1.00[AMR][1000 genomes]
rs9804479	1.00[AMR][1000 genomes]
rs9804554	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043562	chr11:86755535-87547185	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv541120	chr11:86755535-87547185	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1046288	chr11:86757573-87158571	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1045057	chr11:86794670-87033779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv541121	chr11:86794670-87033779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2829956	chr11:86872504-87025059	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv898074	chr11:86963330-87034696	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:87004000-87032600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:87006400-87030600	Weak transcription	Dnd41	blood
3	chr11:87010200-87037200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr11:87010600-87036800	Weak transcription	Psoas Muscle	Psoas
5	chr11:87011800-87024000	Weak transcription	Fetal Brain Female	brain
6	chr11:87011800-87036800	Weak transcription	Primary B cells from cord blood	blood
7	chr11:87012000-87024600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:87012000-87032200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr11:87012000-87034200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:87012000-87040400	Weak transcription	Fetal Intestine Small	intestine
11	chr11:87012400-87030400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr11:87012400-87032200	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr11:87012600-87030200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:87012600-87031000	Weak transcription	Primary T cells from cord blood	blood
15	chr11:87012600-87032200	Weak transcription	Brain Anterior Caudate	brain
16	chr11:87012600-87032200	Weak transcription	Fetal Intestine Large	intestine
17	chr11:87012600-87036000	Weak transcription	Fetal Muscle Leg	muscle
18	chr11:87012600-87036400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:87012800-87044200	Weak transcription	Brain Hippocampus Middle	brain
20	chr11:87013200-87024000	Weak transcription	Esophagus	oesophagus
21	chr11:87013200-87025600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:87013200-87032400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr11:87013200-87034400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr11:87013400-87032200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:87013400-87032200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr11:87013400-87032200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:87013800-87032800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:87013800-87033000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:87014000-87032200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr11:87014200-87034000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:87014400-87047400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:87015600-87039800	Weak transcription	Fetal Stomach	stomach
33	chr11:87015800-87028800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:87015800-87040800	Weak transcription	Left Ventricle	heart
35	chr11:87016000-87022000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:87016000-87030000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:87016000-87030600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:87016400-87034800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:87017400-87033000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr11:87017600-87032800	Weak transcription	K562	blood
41	chr11:87017800-87030000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:87017800-87032200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr11:87017800-87035000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr11:87018000-87026200	Weak transcription	Fetal Kidney	kidney
45	chr11:87018000-87039800	Weak transcription	Ovary	ovary
46	chr11:87018000-87040000	Weak transcription	Aorta	Aorta
47	chr11:87018000-87042800	Weak transcription	Lung	lung
48	chr11:87018200-87029000	Weak transcription	Fetal Lung	lung
49	chr11:87018200-87040800	Weak transcription	Small Intestine	intestine
50	chr11:87018400-87022400	Weak transcription	Thymus	Thymus

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