Variant report

Variant	rs1944105
Chromosome Location	chr11:93415087-93415088
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93414129..93418173-chr11:93428809..93431936,3	K562	blood:
2	chr11:93403553..93406233-chr11:93412548..93415297,2	K562	blood:
3	chr11:93408933..93411947-chr11:93412897..93417212,4	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1011993	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs10734163	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs10741470	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10741471	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10741472	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs10741473	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs10765621	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs10765622	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs10765624	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs10765625	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10765626	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10765627	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs10765628	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10765629	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs10765631	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs10831085	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10831086	0.91[AFR][1000 genomes]
rs10831088	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs10831092	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11020477	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11020493	0.85[ASN][1000 genomes]
rs12277621	0.88[ASN][1000 genomes]
rs12278291	0.88[ASN][1000 genomes]
rs12279657	0.88[ASN][1000 genomes]
rs12293939	0.88[ASN][1000 genomes]
rs1784203	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1944099	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs1944100	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1944101	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1944102	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs1944103	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs1944106	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs1954994	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2155245	0.85[ASN][1000 genomes]
rs2155246	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2155248	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2186686	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2434986	0.81[ASN][1000 genomes]
rs2509840	0.85[ASN][1000 genomes]
rs4237560	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4303195	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4303196	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4753095	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4753096	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4753097	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4753098	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4753099	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4753101	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4753488	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4753489	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4753490	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4753491	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4753492	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4753493	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4753495	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs58454195	0.81[ASN][1000 genomes]
rs586655	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs60224981	0.88[ASN][1000 genomes]
rs60410024	0.88[ASN][1000 genomes]
rs61918554	0.88[ASN][1000 genomes]
rs623510	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs628916	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs630648	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs631116	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs642984	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs643924	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs648162	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs655279	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7101779	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7127033	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7130267	0.88[ASN][1000 genomes]
rs7926876	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7930519	0.88[ASN][1000 genomes]
rs7937523	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7939834	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7939847	0.89[AFR][1000 genomes]
rs7940153	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7949850	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7952443	0.88[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1944105	KIAA1731	cis	lung	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93395400-93417800	Weak transcription	Small Intestine	intestine
2	chr11:93395600-93417400	Weak transcription	Stomach Mucosa	stomach
3	chr11:93395600-93446800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:93395800-93415800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:93396400-93417600	Weak transcription	Fetal Heart	heart
6	chr11:93396600-93417600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr11:93396800-93415200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:93397400-93441400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:93397600-93416400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:93397600-93441000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:93397800-93416200	Weak transcription	Fetal Brain Male	brain
12	chr11:93398000-93426200	Strong transcription	Hela-S3	cervix
13	chr11:93398600-93426000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:93398800-93440800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:93398800-93442200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:93398800-93443200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr11:93399000-93426200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr11:93399000-93426200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:93399200-93439800	Strong transcription	Dnd41	blood
20	chr11:93399600-93415400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:93399600-93418600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:93399600-93418800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:93399800-93418800	Strong transcription	Adipose Nuclei	Adipose
24	chr11:93399800-93422200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr11:93399800-93422400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr11:93399800-93442200	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr11:93400400-93443200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:93400400-93445600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:93400800-93419000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:93401000-93423400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:93403200-93415800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr11:93403800-93417800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr11:93404800-93415800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr11:93405000-93415600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:93405000-93416000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:93407400-93415200	Strong transcription	HUVEC	blood vessel
37	chr11:93408200-93417600	Weak transcription	Fetal Kidney	kidney
38	chr11:93408800-93422200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr11:93409000-93415600	Weak transcription	Colon Smooth Muscle	Colon
40	chr11:93409800-93423400	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr11:93410000-93444000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr11:93410200-93441400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:93411600-93420400	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:93411600-93441400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:93411600-93442400	Strong transcription	Fetal Intestine Large	intestine
46	chr11:93411800-93415600	Strong transcription	Fetal Stomach	stomach
47	chr11:93411800-93415800	Strong transcription	Fetal Intestine Small	intestine
48	chr11:93411800-93419000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:93411800-93419400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:93411800-93419400	Strong transcription	Left Ventricle	heart

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