Variant report

Variant	rs12286496
Chromosome Location	chr11:17223860-17223861
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:17219025..17224856-chr11:17226491..17230586,7	K562	blood:
2	chr11:16964680..16966696-chr11:17223543..17226223,2	K562	blood:
3	chr11:17219657..17222311-chr11:17222613..17225144,3	K562	blood:

Variant related genes	Relation type
ENSG00000070081	Chromatin interaction
ENSG00000011405	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10437606	1.00[AFR][1000 genomes]
rs11024191	1.00[AFR][1000 genomes]
rs11024200	1.00[AFR][1000 genomes]
rs11024205	0.91[AFR][1000 genomes]
rs11024209	0.91[AFR][1000 genomes]
rs11024210	0.91[AFR][1000 genomes]
rs11024214	0.84[AFR][1000 genomes]
rs11024224	0.91[AFR][1000 genomes]
rs11024225	0.91[AFR][1000 genomes]
rs12270107	1.00[AFR][1000 genomes]
rs12270787	1.00[AFR][1000 genomes]
rs12271185	0.91[AFR][1000 genomes]
rs12271462	0.91[AFR][1000 genomes]
rs12273822	1.00[AFR][1000 genomes]
rs12274808	1.00[AFR][1000 genomes]
rs12275868	0.91[AFR][1000 genomes]
rs12277497	1.00[AFR][1000 genomes]
rs12277622	1.00[AFR][1000 genomes]
rs12280196	0.91[AFR][1000 genomes]
rs12281046	1.00[AFR][1000 genomes]
rs12282134	0.91[AFR][1000 genomes]
rs12283197	1.00[AFR][1000 genomes]
rs12284302	0.91[AFR][1000 genomes]
rs12284418	0.91[AFR][1000 genomes]
rs12284697	1.00[AFR][1000 genomes]
rs12287981	1.00[AFR][1000 genomes]
rs12288071	1.00[AFR][1000 genomes]
rs12288105	1.00[AFR][1000 genomes]
rs12289626	0.91[AFR][1000 genomes]
rs12289628	0.91[AFR][1000 genomes]
rs12290259	1.00[AFR][1000 genomes]
rs12290804	1.00[AFR][1000 genomes]
rs12291427	0.83[AFR][1000 genomes]
rs12291561	1.00[AFR][1000 genomes]
rs12292310	0.83[AFR][1000 genomes]
rs12293863	0.91[AFR][1000 genomes]
rs12293938	0.91[AFR][1000 genomes]
rs12294565	0.85[AFR][1000 genomes]
rs12294645	0.83[AFR][1000 genomes]
rs12295187	0.91[AFR][1000 genomes]
rs12295410	0.91[AFR][1000 genomes]
rs61761999	0.84[AFR][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	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv469762	chr11:17170690-17320691	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv482905	chr11:17170690-17320691	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 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	chr11:17167400-17228000	Weak transcription	Fetal Thymus	thymus
2	chr11:17184800-17228800	Weak transcription	Esophagus	oesophagus
3	chr11:17187000-17228000	Weak transcription	Colonic Mucosa	Colon
4	chr11:17187200-17226800	Weak transcription	Small Intestine	intestine
5	chr11:17191200-17227800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:17194200-17228000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:17197600-17228000	Weak transcription	Brain Angular Gyrus	brain
8	chr11:17203000-17228800	Weak transcription	Spleen	Spleen
9	chr11:17207400-17228200	Weak transcription	Colon Smooth Muscle	Colon
10	chr11:17208800-17227400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:17209400-17228000	Weak transcription	K562	blood
12	chr11:17210400-17227400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:17210600-17228200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr11:17210600-17228200	Weak transcription	Brain Substantia Nigra	brain
15	chr11:17210800-17228000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr11:17212600-17228600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:17213000-17227400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr11:17213200-17228200	Weak transcription	Brain Hippocampus Middle	brain
19	chr11:17214400-17228000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr11:17215200-17228000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr11:17215200-17228000	Weak transcription	Fetal Kidney	kidney
22	chr11:17216000-17224000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:17216000-17224200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr11:17216000-17224200	Weak transcription	Adipose Nuclei	Adipose
25	chr11:17216000-17224200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr11:17216000-17226000	Weak transcription	Dnd41	blood
27	chr11:17216000-17226200	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr11:17216000-17227400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:17216000-17227400	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr11:17216000-17227400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:17216000-17227600	Weak transcription	Liver	Liver
32	chr11:17216000-17228000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:17216000-17228000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr11:17216000-17228000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:17216000-17228000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:17216000-17228000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:17216000-17228000	Weak transcription	Brain Anterior Caudate	brain
38	chr11:17216000-17228000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr11:17216000-17228000	Weak transcription	Fetal Brain Female	brain
40	chr11:17216000-17228000	Weak transcription	Fetal Lung	lung
41	chr11:17216000-17228000	Weak transcription	Placenta	Placenta
42	chr11:17216000-17228200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:17216000-17228200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr11:17216000-17228200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr11:17216000-17228200	Weak transcription	NH-A	brain
46	chr11:17216000-17228400	Weak transcription	Ovary	ovary
47	chr11:17216200-17224000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr11:17216200-17224200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr11:17216200-17224200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:17216200-17224200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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