Variant report

Variant	rs10766445
Chromosome Location	chr11:17949154-17949155
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	chr11:17944503..17947787-chr11:17948470..17951111,3	K562	blood:
2	chr11:17942173..17945463-chr11:17948339..17951076,3	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12272369	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12272751	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12273244	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274446	1.00[MKK][hapmap]
rs12281058	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12281767	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12285352	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286341	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290104	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12292912	0.82[ASW][hapmap];1.00[MKK][hapmap]
rs12294071	1.00[AMR][1000 genomes]
rs169807	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs211099	0.85[ASN][1000 genomes]
rs211125	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs211129	0.85[ASN][1000 genomes]
rs211142	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs211143	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs211147	0.91[ASN][1000 genomes]
rs2237922	0.84[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs28643319	1.00[AMR][1000 genomes]
rs412261	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs444698	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[ASN][1000 genomes]
rs7394431	0.90[CHB][hapmap];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	nsv832078	chr11:17780503-17953521	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17838400-17971600	Weak transcription	Gastric	stomach
2	chr11:17886000-17965200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr11:17896000-17968000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr11:17896400-17968000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:17906000-17970200	Weak transcription	Lung	lung
6	chr11:17914600-17965400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:17915800-17966000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:17920600-17976000	Weak transcription	Esophagus	oesophagus
9	chr11:17928600-17970200	Weak transcription	Thymus	Thymus
10	chr11:17929200-17954800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr11:17933000-17956800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:17934400-18033600	Weak transcription	Small Intestine	intestine
13	chr11:17935200-17955000	Strong transcription	Primary T cells from cord blood	blood
14	chr11:17937400-17950600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:17937600-17977000	Weak transcription	Colon Smooth Muscle	Colon
16	chr11:17937800-17951800	Weak transcription	HSMMtube	muscle
17	chr11:17937800-17965800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr11:17939000-17950600	Weak transcription	Fetal Intestine Large	intestine
19	chr11:17939400-17953400	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr11:17940000-17953000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:17940000-17976400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr11:17941000-17953000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:17942000-17950000	Enhancers	Liver	Liver
24	chr11:17942800-17954400	Weak transcription	NHEK	skin
25	chr11:17943200-17953400	Strong transcription	Primary B cells from peripheral blood	blood
26	chr11:17943600-17950800	Weak transcription	Brain Anterior Caudate	brain
27	chr11:17943600-17952400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr11:17943600-17975400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr11:17943800-17950000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:17943800-17953200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:17943800-17992800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:17944000-17964600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:17944000-17975600	Weak transcription	HSMM	muscle
34	chr11:17944000-18026600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:17944200-17949800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr11:17944200-17950000	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr11:17944200-17955400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:17945000-17965400	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr11:17945000-17974000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:17945200-17949200	Weak transcription	Brain Hippocampus Middle	brain
41	chr11:17945200-17954200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr11:17945200-17967600	Weak transcription	Adipose Nuclei	Adipose
43	chr11:17945200-17974800	Weak transcription	GM12878-XiMat	blood
44	chr11:17945400-17949200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr11:17945400-17949400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr11:17945400-17949600	Weak transcription	Fetal Stomach	stomach
47	chr11:17945400-17949600	Weak transcription	Left Ventricle	heart
48	chr11:17945400-17949800	Weak transcription	Fetal Muscle Leg	muscle
49	chr11:17945400-17953200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:17945400-17960400	Weak transcription	Dnd41	blood

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