Variant report

Variant	rs17721184
Chromosome Location	chr11:18002472-18002473
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17999269..18002828-chr11:18002925..18007406,4	K562	blood:
2	chr11:18000487..18002989-chr11:18006898..18009156,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs17720417	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17720513	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17721739	1.00[CEU][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs17794213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17794760	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs211126	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs211127	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs211134	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs211138	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2237912	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237921	0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2237924	0.83[AMR][1000 genomes]
rs2283236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2283239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34614478	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs394218	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3993323	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3993324	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs440234	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4438010	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4756927	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4757604	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4757605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4757606	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4757615	0.90[CEU][hapmap]
rs61882454	0.83[AMR][1000 genomes]
rs61882456	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61882460	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882461	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882465	0.82[EUR][1000 genomes]
rs61884488	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61884489	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61884492	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884493	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61884494	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72874061	0.82[AMR][1000 genomes]
rs758437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[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	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS 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	156 gene(s)	inside rSNPs	diseases
2	nsv897026	chr11:17823296-18084878	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv832079	chr11:17927967-18047743	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17934400-18033600	Weak transcription	Small Intestine	intestine
2	chr11:17944000-18026600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:17945400-18010000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:17945400-18033400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:17959200-18007600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr11:17961000-18016200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:17966400-18014400	Weak transcription	Fetal Thymus	thymus
8	chr11:17968600-18007000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:17971200-18026000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:17973800-18008000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr11:17974200-18007000	Weak transcription	Fetal Lung	lung
12	chr11:17974400-18007200	Weak transcription	Stomach Mucosa	stomach
13	chr11:17974400-18007400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr11:17974600-18008600	Weak transcription	K562	blood
15	chr11:17975000-18020200	Weak transcription	A549	lung
16	chr11:17976600-18006800	Weak transcription	Right Ventricle	heart
17	chr11:17977400-18006800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr11:17977400-18007000	Weak transcription	Colon Smooth Muscle	Colon
19	chr11:17977600-18008400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:17978200-18016200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr11:17978600-18006800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr11:17979000-18005200	Weak transcription	Brain Anterior Caudate	brain
23	chr11:17979800-18016400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:17980400-18033600	Weak transcription	Colonic Mucosa	Colon
25	chr11:17981200-18007200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:17981200-18007800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr11:17981200-18008000	Weak transcription	Brain Substantia Nigra	brain
28	chr11:17981200-18033200	Weak transcription	Esophagus	oesophagus
29	chr11:17981400-18005400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr11:17982800-18005800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr11:17983200-18006800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr11:17984200-18005600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr11:17987200-18007000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr11:17989000-18006800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr11:17989200-18003000	Weak transcription	Aorta	Aorta
36	chr11:17989400-18007200	Weak transcription	Fetal Intestine Large	intestine
37	chr11:17989400-18023400	Weak transcription	Gastric	stomach
38	chr11:17989400-18033400	Weak transcription	Pancreas	Pancrea
39	chr11:17989600-18007000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr11:17991000-18027000	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr11:17991200-18006200	Weak transcription	Lung	lung
42	chr11:17993000-18008000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:17993200-18005400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:17993400-18006800	Weak transcription	Ovary	ovary
45	chr11:17993400-18007000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:17993400-18007400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr11:17993600-18005800	Weak transcription	Brain Germinal Matrix	brain
48	chr11:17993800-18008600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:17994000-18002800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:17994000-18033400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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