Variant report

Variant	rs17210350
Chromosome Location	chr11:85994238-85994239
allele	A/G
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	chr11:85993453-85995707	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:85993634-85994255	GM12892	blood:	n/a	n/a
3	POLR2A	chr11:85993634-85995985	K562	blood:	n/a	n/a
4	POLR2A	chr11:85993722-85994239	GM12878	blood:	n/a	n/a
5	NFATC1	chr11:85993250-85994295	GM12878	blood:	n/a	n/a
6	NFATC1	chr11:85993680-85995750	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:85993738-85996247	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:85993708..85996490-chr11:86003264..86007905,4	K562	blood:
2	chr11:85986924..85991339-chr11:85991702..85995217,5	K562	blood:

Variant related genes	Relation type
ENSG00000254783	TF binding region
ENSG00000074266	Chromatin interaction
ENSG00000255222	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

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];1.00[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]
rs17210343	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]
rs17210546	0.88[JPT][hapmap]
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];1.00[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];1.00[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];1.00[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:3 , 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
3	nsv508643	chr11:85988577-86047719	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 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	chr11:85959200-85997600	Weak transcription	Colon Smooth Muscle	Colon
7	chr11:85959400-85995000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:85961000-85996000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr11:85961000-85997000	Weak transcription	Stomach Mucosa	stomach
10	chr11:85961600-85998000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr11:85964000-85995000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:85969200-85995200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr11:85973000-85995000	Weak transcription	Lung	lung
14	chr11:85973000-85995000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr11:85973000-85995600	Weak transcription	Small Intestine	intestine
16	chr11:85973400-85995000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:85973800-85995000	Weak transcription	Fetal Brain Female	brain
18	chr11:85974200-85995200	Weak transcription	Esophagus	oesophagus
19	chr11:85974800-85995000	Weak transcription	Right Ventricle	heart
20	chr11:85974800-85995000	Weak transcription	Thymus	Thymus
21	chr11:85974800-85995200	Weak transcription	Aorta	Aorta
22	chr11:85974800-86000000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:85975000-86002600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:85975400-85995000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:85975400-85995000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:85976600-85995200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr11:85984400-85995000	Weak transcription	Fetal Stomach	stomach
28	chr11:85984400-86002800	Weak transcription	Fetal Intestine Small	intestine
29	chr11:85985800-85995000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:85986000-85995000	Weak transcription	Gastric	stomach
31	chr11:85986000-85995000	Weak transcription	Ovary	ovary
32	chr11:85986000-85995800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:85986000-85997200	Weak transcription	Pancreas	Pancrea
34	chr11:85986000-86002600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr11:85986200-85995000	Weak transcription	Spleen	Spleen
36	chr11:85987400-85997600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:85988800-85995000	Weak transcription	Brain Hippocampus Middle	brain
38	chr11:85988800-85995200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:85988800-86000000	Weak transcription	Brain Substantia Nigra	brain
40	chr11:85989200-85999800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr11:85989600-85995000	Weak transcription	Fetal Muscle Leg	muscle
42	chr11:85989600-85998200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr11:85989600-86002800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr11:85989600-86002800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr11:85989600-86003000	Weak transcription	NH-A	brain
46	chr11:85989800-85995000	Weak transcription	Brain Angular Gyrus	brain
47	chr11:85989800-85995000	Weak transcription	NHLF	lung
48	chr11:85989800-85995200	Weak transcription	Fetal Kidney	kidney
49	chr11:85989800-85999200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr11:85990000-85995000	Weak transcription	Left Ventricle	heart

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