Variant report

Variant	rs17210343
Chromosome Location	chr11:85987818-85987819
allele	A/C/G/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	SPI1	chr11:85987794-85988151	GM12891	blood:	n/a	chr11:85987976-85987985 chr11:85987974-85987987

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:85986924..85991339-chr11:85991702..85995217,5	K562	blood:
2	chr11:85954518..85956806-chr11:85983872..85987966,3	MCF-7	breast:

Variant related genes	Relation type
EED	TF binding region
ENSG00000074266	Chromatin interaction
ENSG00000254783	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11822620	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11822899	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12417008	1.00[ASN][1000 genomes]
rs12422031	0.88[ASN][1000 genomes]
rs17210182	0.88[ASN][1000 genomes]
rs17210189	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17210259	0.92[ASN][1000 genomes]
rs17210350	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17817610	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17817659	0.92[ASN][1000 genomes]
rs17817701	0.98[ASN][1000 genomes]
rs17817719	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];1.00[ASN][1000 genomes]
rs2036187	1.00[ASN][1000 genomes]
rs2374703	0.88[ASN][1000 genomes]
rs2374704	0.88[ASN][1000 genomes]
rs34602206	1.00[ASN][1000 genomes]
rs3920052	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];0.94[ASN][1000 genomes]
rs4474462	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs59478404	0.88[ASN][1000 genomes]
rs61039312	0.88[ASN][1000 genomes]
rs7104068	0.98[ASN][1000 genomes]
rs7114903	0.95[ASN][1000 genomes]
rs7116376	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7116719	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];0.97[ASN][1000 genomes]
rs7939108	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7944685	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832223	chr11:85845315-86015957	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898055	chr11:85968623-86000757	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85957200-85995400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:85957400-86008000	Weak transcription	Psoas Muscle	Psoas
3	chr11:85957800-85997200	Weak transcription	Colonic Mucosa	Colon
4	chr11:85957800-85999800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:85958400-85997200	Weak transcription	Brain Germinal Matrix	brain
6	chr11:85959200-85988000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr11:85959200-85988600	Weak transcription	Brain Angular Gyrus	brain
8	chr11:85959200-85997600	Weak transcription	Colon Smooth Muscle	Colon
9	chr11:85959400-85995000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:85960800-85988000	Weak transcription	Fetal Heart	heart
11	chr11:85961000-85996000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr11:85961000-85997000	Weak transcription	Stomach Mucosa	stomach
13	chr11:85961600-85998000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr11:85961800-85988000	Weak transcription	Brain Substantia Nigra	brain
15	chr11:85964000-85995000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:85966000-85992000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:85966200-85991600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr11:85967000-85991600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr11:85968800-85988800	Weak transcription	HSMMtube	muscle
20	chr11:85969200-85988200	Weak transcription	NH-A	brain
21	chr11:85969200-85995200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr11:85969800-85988400	Weak transcription	Fetal Brain Male	brain
23	chr11:85973000-85989200	Weak transcription	NHLF	lung
24	chr11:85973000-85995000	Weak transcription	Lung	lung
25	chr11:85973000-85995000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr11:85973000-85995600	Weak transcription	Small Intestine	intestine
27	chr11:85973400-85995000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:85973800-85992800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:85973800-85995000	Weak transcription	Fetal Brain Female	brain
30	chr11:85974200-85995200	Weak transcription	Esophagus	oesophagus
31	chr11:85974800-85988600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr11:85974800-85995000	Weak transcription	Right Ventricle	heart
33	chr11:85974800-85995000	Weak transcription	Thymus	Thymus
34	chr11:85974800-85995200	Weak transcription	Aorta	Aorta
35	chr11:85974800-86000000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:85975000-85988000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr11:85975000-85988400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:85975000-86002600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr11:85975400-85988400	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr11:85975400-85995000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:85975400-85995000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:85976200-85989200	Weak transcription	NHEK	skin
43	chr11:85976400-85988000	Weak transcription	Brain Anterior Caudate	brain
44	chr11:85976400-85988000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr11:85976600-85995200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr11:85978600-85988000	Weak transcription	Placenta	Placenta
47	chr11:85979000-85992400	Strong transcription	Dnd41	blood
48	chr11:85979600-85991600	Strong transcription	Primary B cells from peripheral blood	blood
49	chr11:85980200-85988000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:85980200-85991400	Strong transcription	Primary T cells from cord blood	blood

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