Variant report

Variant	rs10741470
Chromosome Location	chr11:93398596-93398597
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93398484..93401369-chr11:93431044..93433387,2	K562	blood:
2	chr11:93395504..93399552-chr11:93436710..93441149,5	K562	blood:
3	chr11:93397501..93399889-chr11:93516016..93518702,2	K562	blood:
4	chr11:93397142..93399863-chr11:93533148..93534949,2	K562	blood:
5	chr11:93394628..93397183-chr11:93397951..93402212,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166012	Chromatin interaction
ENSG00000166004	Chromatin interaction
ENSG00000265292	Chromatin interaction
ENSG00000042429	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1011993	1.00[EUR][1000 genomes]
rs10734163	1.00[EUR][1000 genomes]
rs10741471	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10741472	1.00[EUR][1000 genomes]
rs10741473	1.00[EUR][1000 genomes]
rs10765621	1.00[EUR][1000 genomes]
rs10765622	1.00[EUR][1000 genomes]
rs10765624	1.00[EUR][1000 genomes]
rs10765625	0.94[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10765626	0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10765627	1.00[EUR][1000 genomes]
rs10765628	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10765629	1.00[EUR][1000 genomes]
rs10765631	1.00[EUR][1000 genomes]
rs10831085	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10831086	1.00[EUR][1000 genomes]
rs10831088	1.00[EUR][1000 genomes]
rs11020477	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11020493	0.90[ASN][1000 genomes]
rs12277621	0.92[ASN][1000 genomes]
rs12278291	0.92[ASN][1000 genomes]
rs12279657	0.92[ASN][1000 genomes]
rs12293939	0.92[ASN][1000 genomes]
rs1784203	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1944099	1.00[EUR][1000 genomes]
rs1944100	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1944101	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1944102	1.00[EUR][1000 genomes]
rs1944103	1.00[EUR][1000 genomes]
rs1944105	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1944106	1.00[EUR][1000 genomes]
rs1954994	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2155245	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2155246	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2155248	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2186686	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2434986	0.85[ASN][1000 genomes]
rs2509840	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4237560	1.00[EUR][1000 genomes]
rs4303195	1.00[EUR][1000 genomes]
rs4303196	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4753095	1.00[EUR][1000 genomes]
rs4753096	1.00[EUR][1000 genomes]
rs4753097	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4753098	1.00[EUR][1000 genomes]
rs4753099	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4753101	0.90[ASN][1000 genomes]
rs4753488	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4753489	1.00[EUR][1000 genomes]
rs4753490	1.00[EUR][1000 genomes]
rs4753491	1.00[EUR][1000 genomes]
rs4753495	1.00[EUR][1000 genomes]
rs58454195	0.85[ASN][1000 genomes]
rs60224981	0.92[ASN][1000 genomes]
rs60410024	0.92[ASN][1000 genomes]
rs61918554	0.92[ASN][1000 genomes]
rs623510	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs628916	1.00[EUR][1000 genomes]
rs630648	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs631116	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs642984	1.00[EUR][1000 genomes]
rs643924	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs648162	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs655279	1.00[EUR][1000 genomes]
rs7121150	1.00[EUR][1000 genomes]
rs7127033	1.00[EUR][1000 genomes]
rs7130267	0.92[ASN][1000 genomes]
rs7926876	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930519	0.92[ASN][1000 genomes]
rs7937523	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939834	1.00[EUR][1000 genomes]
rs7940153	1.00[EUR][1000 genomes]
rs7949850	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7952443	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10741470	KIAA1731	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93395400-93404000	Weak transcription	Esophagus	oesophagus
2	chr11:93395400-93406400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:93395400-93406800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:93395400-93406800	Weak transcription	Lung	lung
5	chr11:93395400-93412200	Weak transcription	Gastric	stomach
6	chr11:93395400-93412200	Weak transcription	Pancreas	Pancrea
7	chr11:93395400-93417800	Weak transcription	Small Intestine	intestine
8	chr11:93395600-93399000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr11:93395600-93400000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:93395600-93400000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr11:93395600-93400400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr11:93395600-93400400	Weak transcription	Placenta	Placenta
13	chr11:93395600-93400800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr11:93395600-93401000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr11:93395600-93401200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:93395600-93402200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr11:93395600-93403800	Weak transcription	Left Ventricle	heart
18	chr11:93395600-93403800	Weak transcription	Ovary	ovary
19	chr11:93395600-93404000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:93395600-93404200	Weak transcription	Fetal Muscle Leg	muscle
21	chr11:93395600-93408200	Weak transcription	Colon Smooth Muscle	Colon
22	chr11:93395600-93411800	Weak transcription	Aorta	Aorta
23	chr11:93395600-93412200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:93395600-93412400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr11:93395600-93412600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:93395600-93412600	Weak transcription	Colonic Mucosa	Colon
27	chr11:93395600-93417400	Weak transcription	Stomach Mucosa	stomach
28	chr11:93395600-93446800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr11:93395800-93398600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:93395800-93398800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr11:93395800-93399800	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr11:93395800-93400800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr11:93395800-93411800	Weak transcription	HSMMtube	muscle
34	chr11:93395800-93412200	Weak transcription	Thymus	Thymus
35	chr11:93395800-93413200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr11:93395800-93413400	Weak transcription	Right Ventricle	heart
37	chr11:93395800-93415800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr11:93396000-93398800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:93396000-93399800	Weak transcription	Adipose Nuclei	Adipose
40	chr11:93396000-93400000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr11:93396000-93400600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr11:93396200-93398800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr11:93396200-93399800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr11:93396200-93400400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr11:93396200-93400600	Weak transcription	Brain Substantia Nigra	brain
46	chr11:93396200-93400800	Weak transcription	NH-A	brain
47	chr11:93396200-93404600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:93396200-93411800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr11:93396400-93399000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr11:93396400-93399000	Weak transcription	Primary hematopoietic stem cells	blood

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