Variant report

Variant	rs17350590
Chromosome Location	chr11:102328730-102328731
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr11:102328661-102328848	MCF10A-Er-Src	breast:	n/a	n/a
2	PBX3	chr11:102328612-102329010	SK-N-SH	brain:	n/a	n/a
3	NFIC	chr11:102328472-102329076	ECC-1	luminal epithelium:	n/a	n/a
4	PBX3	chr11:102328588-102328985	SK-N-SH	brain:	n/a	n/a
5	EP300	chr11:102328657-102328948	SK-N-SH_RA	brain:	n/a	n/a
6	NFIC	chr11:102328515-102329054	SK-N-SH	brain:	n/a	n/a
7	EP300	chr11:102328708-102328972	SK-N-SH_RA	brain:	n/a	n/a
8	POLR2A	chr11:102328672-102328916	H1-neurons	neurons:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:102321122..102328963-chr11:102333676..102341979,14	MCF-7	breast:
2	chr11:102321837..102326720-chr11:102328384..102333595,6	MCF-7	breast:
3	chr11:102325862..102328807-chr11:102333088..102335949,2	K562	blood:
4	chr11:102319786..102325001-chr11:102328300..102332050,7	K562	blood:
5	chr11:102328220..102330008-chr11:102355332..102358020,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM123	TF binding region
ENSG00000152558	Chromatin interaction
ENSG00000255482	Chromatin interaction
ENSG00000255337	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10219215	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap]
rs1058606	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes]
rs10895292	0.83[EUR][1000 genomes]
rs10895293	0.83[EUR][1000 genomes]
rs10895296	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes]
rs11225235	0.86[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs11225236	0.83[EUR][1000 genomes]
rs11225237	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs11225242	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs11225243	0.98[EUR][1000 genomes]
rs11225244	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs11225247	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs11225251	0.92[EUR][1000 genomes]
rs11547915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11547916	0.98[EUR][1000 genomes]
rs11601671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs11603677	0.83[EUR][1000 genomes]
rs11604008	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs11604189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs11604271	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11605010	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11605066	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11605133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs11605573	0.83[EUR][1000 genomes]
rs11607657	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11607908	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12269847	0.98[EUR][1000 genomes]
rs12271457	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs12271900	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12274405	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs12275185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs12275349	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap]
rs12277594	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs12277747	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs12277853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs12279056	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs12282486	0.83[EUR][1000 genomes]
rs12283885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs12290033	0.83[EUR][1000 genomes]
rs12291114	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs12293094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[MKK][hapmap];0.90[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293834	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes]
rs12792649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs1317775	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs13377311	0.88[EUR][1000 genomes]
rs17349689	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17350205	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1943781	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2436036	1.00[CHB][hapmap]
rs34740624	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs35972941	0.87[AMR][1000 genomes]
rs484068	1.00[CHB][hapmap]
rs485020	1.00[CHB][hapmap]
rs525305	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs531350	1.00[CHB][hapmap]
rs57346058	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57562739	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs577850	1.00[CHB][hapmap]
rs58250524	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60056981	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61123589	0.94[EUR][1000 genomes]
rs61334418	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs637708	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs660908	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs670334	1.00[CHB][hapmap]
rs7104841	0.98[EUR][1000 genomes]
rs7113906	0.83[EUR][1000 genomes]
rs7114048	0.83[EUR][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	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers 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 target site	13 gene(s)	inside rSNPs	diseases
3	nsv1035567	chr11:102264516-102431607	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv898334	chr11:102272884-102353192	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102324200-102337600	Weak transcription	Lung	lung
2	chr11:102324400-102331200	Weak transcription	Pancreas	Pancrea
3	chr11:102324600-102329000	Enhancers	NHEK	skin
4	chr11:102324600-102329800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr11:102324600-102330000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr11:102324600-102331800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr11:102324600-102344600	Weak transcription	Colonic Mucosa	Colon
8	chr11:102324800-102335000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:102324800-102335800	Enhancers	HepG2	liver
10	chr11:102325000-102329000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:102325000-102334600	Enhancers	Liver	Liver
12	chr11:102325000-102335600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr11:102325200-102330000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:102325200-102335000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr11:102325400-102329800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:102325600-102329000	Enhancers	A549	lung
17	chr11:102325600-102335600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:102325800-102329600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr11:102326000-102332200	Weak transcription	Fetal Intestine Large	intestine
20	chr11:102326000-102333400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr11:102326000-102335400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:102326400-102335200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:102326600-102329800	Weak transcription	Thymus	Thymus
24	chr11:102326600-102334800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr11:102326600-102337000	Weak transcription	Fetal Thymus	thymus
26	chr11:102327600-102329200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:102327800-102328800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr11:102327800-102328800	Enhancers	Brain Cingulate Gyrus	brain
29	chr11:102327800-102329800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:102327800-102337000	Weak transcription	Placenta	Placenta
31	chr11:102328000-102328800	Enhancers	Brain Substantia Nigra	brain
32	chr11:102328000-102329000	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr11:102328000-102329200	Enhancers	Stomach Mucosa	stomach
34	chr11:102328200-102329000	Enhancers	Brain Anterior Caudate	brain
35	chr11:102328200-102329200	Enhancers	HUVEC	blood vessel
36	chr11:102328200-102329800	Enhancers	Brain Angular Gyrus	brain
37	chr11:102328200-102330400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr11:102328400-102329000	Enhancers	Brain Germinal Matrix	brain
39	chr11:102328400-102329200	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr11:102328400-102329600	Enhancers	Hela-S3	cervix
41	chr11:102328400-102331000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:102328600-102328800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:102328600-102328800	Enhancers	Brain Hippocampus Middle	brain
44	chr11:102328600-102329000	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr11:102328600-102329000	Flanking Active TSS	GM12878-XiMat	blood
46	chr11:102328600-102329400	Enhancers	Fetal Brain Female	brain
47	chr11:102328600-102329600	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr11:102328600-102329600	Enhancers	Fetal Lung	lung
49	chr11:102328600-102330600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr11:102328600-102331000	Enhancers	Primary T cells from cord blood	blood

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