Variant report

Variant	rs11605133
Chromosome Location	chr11:102321203-102321204
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:102320331-102321227	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:102320321-102321427	PANC-1	pancreas:	n/a	n/a
3	CUX1	chr11:102321033-102321472	K562	blood:	n/a	n/a
4	POLR2A	chr11:102320332-102321255	HUVEC	blood vessel:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:102216212..102220028-chr11:102319803..102324997,8	K562	blood:
2	chr11:102321122..102328963-chr11:102333676..102341979,14	MCF-7	breast:
3	chr11:102215215..102219130-chr11:102321135..102324493,6	K562	blood:
4	chr11:102320576..102325526-chr11:102337005..102343107,13	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255337	TF binding region
TMEM123	TF binding region
ENSG00000152558	Chromatin interaction
ENSG00000255482	Chromatin interaction
ENSG00000110330	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10895292	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10895293	0.85[EUR][1000 genomes]
rs10895296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs11225222	1.00[ASN][1000 genomes]
rs11225229	1.00[ASN][1000 genomes]
rs11225235	0.86[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11225236	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11225237	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11225242	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11225243	1.00[EUR][1000 genomes]
rs11225244	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11225247	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11225251	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11225264	1.00[ASW][hapmap]
rs11225285	1.00[ASW][hapmap]
rs11501342	1.00[ASN][1000 genomes]
rs11501343	1.00[ASN][1000 genomes]
rs11501344	1.00[ASN][1000 genomes]
rs11547915	1.00[ASW][hapmap];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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11547916	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11601671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11603677	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604008	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604271	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605010	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605066	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605087	1.00[ASN][1000 genomes]
rs11605573	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605915	1.00[ASN][1000 genomes]
rs11607214	1.00[ASN][1000 genomes]
rs11607657	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11607908	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12269847	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12270109	1.00[ASN][1000 genomes]
rs12271457	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12271900	0.98[EUR][1000 genomes]
rs12273698	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];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12275349	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];1.00[ASN][1000 genomes]
rs12277594	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12277747	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs12277853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12279056	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282486	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12283885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12290033	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12291114	1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12293094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.96[EUR][1000 genomes]
rs12293834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275850	1.00[ASN][1000 genomes]
rs12792649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1290044	1.00[ASN][1000 genomes]
rs1317775	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs1318199	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13377311	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1574410	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17349689	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17350205	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17350590	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]
rs1943781	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs2436036	1.00[CHB][hapmap]
rs2510491	1.00[ASN][1000 genomes]
rs34104132	1.00[ASN][1000 genomes]
rs34296997	1.00[ASN][1000 genomes]
rs34740624	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs35457182	1.00[ASN][1000 genomes]
rs35569122	1.00[ASN][1000 genomes]
rs35623064	1.00[ASN][1000 genomes]
rs35972941	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs484068	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs485020	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs525305	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs531350	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs57346058	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57562739	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs577850	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs58250524	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60056981	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61123589	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61334418	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61895370	1.00[ASN][1000 genomes]
rs61895375	1.00[ASN][1000 genomes]
rs61895376	1.00[ASN][1000 genomes]
rs637708	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs660908	1.00[CHB][hapmap]
rs670334	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7104841	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7113906	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7114048	0.85[EUR][1000 genomes];1.00[ASN][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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102301400-102322400	Weak transcription	Spleen	Spleen
2	chr11:102304000-102322400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:102304200-102322000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr11:102309600-102322400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:102309800-102322400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:102310000-102321600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:102310200-102322400	Weak transcription	Lung	lung
8	chr11:102316800-102322000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr11:102318000-102322000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr11:102318200-102321400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:102318200-102321600	Weak transcription	Osteobl	bone
12	chr11:102318800-102321400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr11:102319000-102321400	Enhancers	Fetal Intestine Small	intestine
14	chr11:102319000-102322000	Enhancers	Stomach Mucosa	stomach
15	chr11:102319000-102322400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr11:102319200-102322400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:102319400-102321400	Enhancers	Rectal Smooth Muscle	rectum
18	chr11:102319400-102321600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr11:102319400-102321800	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr11:102319400-102321800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:102319400-102322000	Enhancers	Primary B cells from peripheral blood	blood
22	chr11:102319600-102321400	Enhancers	Small Intestine	intestine
23	chr11:102319600-102321600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr11:102319600-102321600	Enhancers	Fetal Intestine Large	intestine
25	chr11:102319600-102322200	Weak transcription	Placenta	Placenta
26	chr11:102319600-102322400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr11:102319800-102321400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr11:102319800-102321400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:102319800-102321400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:102319800-102321400	Enhancers	Duodenum Mucosa	Duodenum
31	chr11:102319800-102321400	Enhancers	Fetal Heart	heart
32	chr11:102319800-102321600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr11:102319800-102321600	Enhancers	Fetal Kidney	kidney
34	chr11:102319800-102321600	Enhancers	K562	blood
35	chr11:102319800-102322000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr11:102319800-102322000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr11:102319800-102322400	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr11:102320000-102321400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:102320000-102321600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr11:102320000-102321600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:102320000-102322400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr11:102320000-102322400	Weak transcription	Gastric	stomach
43	chr11:102320200-102321400	Active TSS	Brain Germinal Matrix	brain
44	chr11:102320200-102321400	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr11:102320200-102321600	Enhancers	Primary B cells from cord blood	blood
46	chr11:102320200-102321800	Flanking Active TSS	HUVEC	blood vessel
47	chr11:102320400-102321400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr11:102320400-102321400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:102320400-102321400	Enhancers	Fetal Lung	lung
50	chr11:102320400-102321400	Enhancers	NHEK	skin

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