Variant report

Variant	rs11042246
Chromosome Location	chr11:9276041-9276042
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	chr11:9267716..9269230-chr11:9274364..9276054,2	K562	blood:
2	chr11:9267583..9270132-chr11:9274385..9279675,6	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10454487	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840188	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840189	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042215	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042217	1.00[ASN][1000 genomes]
rs11042224	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042228	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042230	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042231	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042232	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042233	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042240	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042242	1.00[ASN][1000 genomes]
rs11042253	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042257	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11042259	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11042268	0.89[EUR][1000 genomes]
rs11042272	0.85[EUR][1000 genomes]
rs12286621	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12360767	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12362997	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12363645	0.81[EUR][1000 genomes]
rs12363839	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17257379	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2133215	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4627079	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4910446	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4910447	0.92[EUR][1000 genomes]
rs55962227	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56294473	1.00[ASN][1000 genomes]
rs60693427	1.00[ASN][1000 genomes]
rs6486204	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486209	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66554737	1.00[ASN][1000 genomes]
rs7103472	0.89[EUR][1000 genomes]
rs7115283	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7115373	0.89[EUR][1000 genomes]
rs7121753	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129049	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7130400	1.00[ASN][1000 genomes]
rs72850512	0.89[EUR][1000 genomes]
rs72850528	0.87[EUR][1000 genomes]
rs72850531	0.87[EUR][1000 genomes]
rs72850544	0.83[EUR][1000 genomes]
rs72857989	0.89[AFR][1000 genomes]
rs72859608	0.83[EUR][1000 genomes]
rs72859676	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72859678	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72859693	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72861335	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72861360	0.92[EUR][1000 genomes]
rs7394454	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7394869	1.00[ASN][1000 genomes]
rs7395631	1.00[ASN][1000 genomes]
rs7929621	1.00[ASN][1000 genomes]
rs7936622	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938562	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939704	0.92[EUR][1000 genomes]
rs7940872	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7945570	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949349	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9645644	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
8	nsv515891	chr11:9275898-9334961	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9253000-9285600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:9254400-9280600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:9257000-9284800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr11:9257200-9285600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:9257600-9276800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:9261800-9285600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:9262400-9282400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:9264000-9276800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr11:9264000-9283400	Weak transcription	Fetal Lung	lung
10	chr11:9264000-9284600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:9264200-9285400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:9265200-9279400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:9265600-9284600	Weak transcription	Brain Germinal Matrix	brain
14	chr11:9267200-9276200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr11:9267800-9285600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:9269400-9280000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:9270200-9282000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:9270200-9284800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:9271800-9280200	Weak transcription	HSMM	muscle
20	chr11:9272000-9278000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:9272000-9282000	Weak transcription	NHDF-Ad	bronchial
22	chr11:9272000-9284600	Weak transcription	Fetal Brain Female	brain
23	chr11:9272000-9285400	Weak transcription	HSMMtube	muscle
24	chr11:9272200-9276200	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr11:9272200-9279800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:9272200-9281600	Weak transcription	Hela-S3	cervix
27	chr11:9272200-9281600	Weak transcription	Osteobl	bone
28	chr11:9272400-9281600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:9272400-9282000	Weak transcription	NHLF	lung
30	chr11:9272400-9282800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr11:9272600-9281200	Weak transcription	Right Ventricle	heart
32	chr11:9272600-9281400	Weak transcription	Ovary	ovary
33	chr11:9272600-9281400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr11:9272600-9285600	Weak transcription	Small Intestine	intestine
35	chr11:9272800-9278000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr11:9273200-9276400	Enhancers	Primary T cells from cord blood	blood
37	chr11:9273200-9276600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:9273200-9276600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:9273200-9278200	Weak transcription	A549	lung
40	chr11:9273200-9282600	Weak transcription	Thymus	Thymus
41	chr11:9273200-9285400	Weak transcription	K562	blood
42	chr11:9273400-9278200	Weak transcription	NHEK	skin
43	chr11:9273400-9280000	Weak transcription	GM12878-XiMat	blood
44	chr11:9273400-9281200	Weak transcription	Primary B cells from cord blood	blood
45	chr11:9273600-9276800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:9273600-9278400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:9274000-9278600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:9274400-9277600	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr11:9274400-9277600	Strong transcription	Fetal Muscle Leg	muscle
50	chr11:9274600-9276200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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