Variant report

Variant	rs694307
Chromosome Location	chr11:93541919-93541920
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10741468	1.00[EUR][1000 genomes]
rs10765632	1.00[EUR][1000 genomes]
rs10831087	1.00[EUR][1000 genomes]
rs16919376	1.00[TSI][hapmap]
rs16919390	1.00[TSI][hapmap]
rs16919393	1.00[TSI][hapmap]
rs16919410	1.00[TSI][hapmap]
rs16919459	1.00[TSI][hapmap]
rs1939566	1.00[EUR][1000 genomes]
rs2434983	1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];1.00[EUR][1000 genomes]
rs2508574	1.00[EUR][1000 genomes]
rs4284369	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs4595504	1.00[EUR][1000 genomes]
rs584474	1.00[EUR][1000 genomes]
rs592526	0.82[ASW][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs604414	1.00[EUR][1000 genomes]
rs607826	1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs614003	1.00[EUR][1000 genomes]
rs622231	1.00[EUR][1000 genomes]
rs624883	0.83[MKK][hapmap];1.00[EUR][1000 genomes]
rs641449	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6483257	1.00[EUR][1000 genomes]
rs6483263	1.00[EUR][1000 genomes]
rs653934	1.00[EUR][1000 genomes]
rs655208	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs657177	0.82[ASW][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs666470	1.00[EUR][1000 genomes]
rs669937	0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs683660	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7103189	1.00[TSI][hapmap]
rs7109799	1.00[TSI][hapmap]
rs7119915	1.00[TSI][hapmap]
rs7120747	1.00[TSI][hapmap]
rs7123801	1.00[EUR][1000 genomes]
rs73561150	1.00[EUR][1000 genomes]
rs73561172	1.00[EUR][1000 genomes]
rs73563050	1.00[EUR][1000 genomes]
rs73564781	1.00[EUR][1000 genomes]
rs73564788	1.00[EUR][1000 genomes]
rs73566804	1.00[EUR][1000 genomes]
rs73566811	1.00[EUR][1000 genomes]
rs73566818	1.00[EUR][1000 genomes]
rs7928328	1.00[EUR][1000 genomes]
rs7939434	1.00[EUR][1000 genomes]
rs7940598	1.00[EUR][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	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv832232	chr11:93401314-93549438	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93519200-93542800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:93520200-93549400	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:93520200-93551000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:93520400-93549200	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:93520400-93549400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:93520600-93548200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr11:93520600-93551000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:93520800-93549000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr11:93520800-93549200	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:93520800-93549200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr11:93520800-93549400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:93520800-93549400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:93520800-93549400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:93521000-93547800	Strong transcription	Hela-S3	cervix
15	chr11:93521000-93548600	Strong transcription	NH-A	brain
16	chr11:93521000-93549200	Strong transcription	Fetal Thymus	thymus
17	chr11:93521000-93549600	Strong transcription	Primary B cells from peripheral blood	blood
18	chr11:93521000-93549600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:93521000-93550800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:93521200-93547800	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr11:93521200-93548800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:93521200-93549200	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr11:93521200-93549200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:93521200-93549200	Strong transcription	Fetal Intestine Large	intestine
25	chr11:93521200-93549200	Strong transcription	Placenta	Placenta
26	chr11:93521200-93549200	Strong transcription	HUVEC	blood vessel
27	chr11:93521200-93549400	Strong transcription	Primary B cells from cord blood	blood
28	chr11:93521200-93549800	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr11:93521400-93546000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:93521400-93547800	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr11:93521400-93549000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:93521400-93549400	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr11:93521400-93549400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr11:93521400-93549400	Strong transcription	Liver	Liver
35	chr11:93521400-93549400	Strong transcription	Duodenum Mucosa	Duodenum
36	chr11:93521400-93549600	Strong transcription	Adipose Nuclei	Adipose
37	chr11:93521400-93551200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr11:93521600-93549400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:93521800-93548000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:93521800-93551000	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr11:93522000-93549200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:93522200-93548000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:93522200-93549400	Strong transcription	Primary T cells from cord blood	blood
44	chr11:93522400-93549000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:93522400-93549200	Strong transcription	GM12878-XiMat	blood
46	chr11:93522800-93548400	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr11:93522800-93549200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr11:93523000-93548600	Strong transcription	Dnd41	blood
49	chr11:93523000-93549200	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr11:93523200-93548400	Strong transcription	Primary T helper cells PMA-I stimulated	--

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