Variant report

Variant	rs11042259
Chromosome Location	chr11:9301812-9301813
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	chr11:9301124..9302676-chr11:9383482..9385931,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10454487	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10840188	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10840189	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11042215	0.87[EUR][1000 genomes]
rs11042224	0.89[EUR][1000 genomes]
rs11042228	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11042230	0.90[EUR][1000 genomes]
rs11042231	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11042232	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11042233	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11042240	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11042241	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11042246	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11042253	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11042257	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042268	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042272	0.97[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12286621	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12360767	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12362997	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12363645	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12363839	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12807631	1.00[ASN][1000 genomes]
rs17257379	0.99[EUR][1000 genomes]
rs2133215	0.89[EUR][1000 genomes]
rs4627079	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910446	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910447	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55962227	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6486204	0.89[EUR][1000 genomes]
rs6486209	0.87[EUR][1000 genomes]
rs7103472	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7115283	0.97[EUR][1000 genomes]
rs7115373	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7121753	0.95[EUR][1000 genomes]
rs7129049	0.89[EUR][1000 genomes]
rs72850512	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72850528	0.97[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72850531	0.97[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72850544	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72850552	0.81[EUR][1000 genomes]
rs72859608	0.81[EUR][1000 genomes]
rs72859676	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72859678	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72859693	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72861335	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72861360	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7394454	0.87[EUR][1000 genomes]
rs7936622	0.99[EUR][1000 genomes]
rs7938562	0.98[EUR][1000 genomes]
rs7939704	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7940872	0.99[EUR][1000 genomes]
rs7945570	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7949349	0.85[EUR][1000 genomes]
rs9645644	0.85[AMR][1000 genomes];0.98[EUR][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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv7669	chr11:9290376-9335028	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9287400-9302000	Weak transcription	Spleen	Spleen
2	chr11:9287400-9319600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:9287400-9332600	Weak transcription	HMEC	breast
4	chr11:9287400-9333000	Weak transcription	Gastric	stomach
5	chr11:9287600-9302000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:9287600-9302000	Weak transcription	HSMM	muscle
7	chr11:9287600-9302000	Weak transcription	Osteobl	bone
8	chr11:9287600-9304800	Weak transcription	NHEK	skin
9	chr11:9287600-9319200	Weak transcription	NHLF	lung
10	chr11:9287800-9302400	Weak transcription	Brain Germinal Matrix	brain
11	chr11:9287800-9305200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:9287800-9312200	Weak transcription	K562	blood
13	chr11:9287800-9328400	Weak transcription	A549	lung
14	chr11:9287800-9333800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:9288000-9320400	Weak transcription	Fetal Kidney	kidney
16	chr11:9288200-9321200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:9288600-9323200	Weak transcription	Pancreas	Pancrea
18	chr11:9289600-9311600	Weak transcription	HepG2	liver
19	chr11:9289600-9314400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr11:9289800-9302000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr11:9290000-9302000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr11:9290000-9318000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:9291600-9302200	Weak transcription	Hela-S3	cervix
24	chr11:9291600-9322600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr11:9293800-9311000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr11:9296000-9307600	Weak transcription	Primary B cells from cord blood	blood
27	chr11:9296200-9303000	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr11:9296600-9302000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr11:9296600-9302000	Weak transcription	Brain Anterior Caudate	brain
30	chr11:9296600-9302000	Weak transcription	Right Atrium	heart
31	chr11:9296600-9307400	Weak transcription	Lung	lung
32	chr11:9296600-9320000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr11:9296600-9332600	Weak transcription	Right Ventricle	heart
34	chr11:9296600-9333000	Weak transcription	Psoas Muscle	Psoas
35	chr11:9296600-9334800	Weak transcription	Aorta	Aorta
36	chr11:9296800-9302000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:9296800-9302000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr11:9296800-9307800	Weak transcription	Brain Hippocampus Middle	brain
39	chr11:9296800-9319800	Weak transcription	Brain Substantia Nigra	brain
40	chr11:9296800-9332800	Weak transcription	Brain Angular Gyrus	brain
41	chr11:9296800-9333200	Weak transcription	Colon Smooth Muscle	Colon
42	chr11:9296800-9333200	Weak transcription	Ovary	ovary
43	chr11:9297000-9302200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:9297000-9302400	Weak transcription	NHDF-Ad	bronchial
45	chr11:9297000-9307800	Weak transcription	HUVEC	blood vessel
46	chr11:9297000-9321400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr11:9297000-9322800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:9297200-9321000	Weak transcription	Left Ventricle	heart
49	chr11:9297600-9302200	Strong transcription	Fetal Intestine Small	intestine
50	chr11:9298200-9323800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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