Variant report

Variant	rs2686246
Chromosome Location	chr11:33761424-33761425
allele	C/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	chr11:33760988-33761786	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:33736797..33739107-chr11:33760655..33763290,2	MCF-7	breast:
2	chr11:33757039..33760568-chr11:33760793..33764525,4	K562	blood:
3	chr11:33756399..33761777-chr11:33794455..33799644,9	K562	blood:

Variant related genes	Relation type
CD59	TF binding region
ENSG00000255272	Chromatin interaction
ENSG00000110429	Chromatin interaction
ENSG00000085063	Chromatin interaction
ENSG00000254508	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1402956	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1522088	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1632527	1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16924726	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2177123	0.82[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes]
rs2231453	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421209	0.85[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes]
rs704700	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs831593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs831597	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs831598	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs831601	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs831602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs831619	0.90[JPT][hapmap]
rs831623	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs831626	0.94[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes]
rs831628	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs831637	0.90[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832113	chr11:33609202-33767781	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33757800-33764600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr11:33758000-33764400	Weak transcription	Spleen	Spleen
3	chr11:33758000-33770200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr11:33758200-33764400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:33758200-33764400	Weak transcription	Gastric	stomach
6	chr11:33758200-33766400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr11:33758400-33764400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr11:33758400-33764400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:33758400-33764400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:33758400-33764400	Weak transcription	Thymus	Thymus
11	chr11:33758400-33764600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr11:33758600-33763200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:33758600-33764200	Weak transcription	Primary B cells from cord blood	blood
14	chr11:33758600-33764200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr11:33758600-33764200	Weak transcription	Primary T cells from cord blood	blood
16	chr11:33758600-33764200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr11:33758600-33764400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:33758600-33764400	Weak transcription	Ovary	ovary
19	chr11:33758600-33765800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:33758600-33767800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr11:33758600-33770200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr11:33758800-33764200	Weak transcription	Fetal Brain Female	brain
23	chr11:33758800-33764400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr11:33758800-33764400	Weak transcription	Aorta	Aorta
25	chr11:33758800-33764600	Weak transcription	Dnd41	blood
26	chr11:33758800-33764800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:33758800-33765000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr11:33758800-33768000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr11:33758800-33768400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr11:33758800-33770000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:33758800-33770800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr11:33758800-33771800	Weak transcription	Brain Angular Gyrus	brain
33	chr11:33758800-33774600	Weak transcription	Esophagus	oesophagus
34	chr11:33758800-33795000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr11:33759000-33763200	Weak transcription	Fetal Thymus	thymus
36	chr11:33759000-33764400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:33759000-33764400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:33759000-33764400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr11:33759000-33764400	Weak transcription	Colonic Mucosa	Colon
40	chr11:33759000-33764400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr11:33759000-33764600	Weak transcription	Right Ventricle	heart
42	chr11:33759000-33764800	Weak transcription	Brain Substantia Nigra	brain
43	chr11:33759000-33767800	Weak transcription	Brain Hippocampus Middle	brain
44	chr11:33759000-33768200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr11:33759000-33769200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr11:33759000-33770200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr11:33759000-33771800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:33759000-33773400	Weak transcription	Lung	lung
49	chr11:33759000-33774600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr11:33759000-33778400	Weak transcription	H1 Cell Line	embryonic stem cell

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