Variant report

Variant	rs34223518
Chromosome Location	chr11:85660715-85660716
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85656909..85659832-chr11:85660162..85661872,3	K562	blood:
2	chr11:85659757..85662589-chr11:85664114..85665919,2	K562	blood:
3	chr11:85650684..85656124-chr11:85659031..85663462,6	K562	blood:
4	chr11:85659346..85662146-chr11:85836762..85839271,2	K562	blood:
5	chr11:85658393..85662131-chr11:85674389..85678033,3	K562	blood:
6	chr11:85660136..85662159-chr11:85679695..85681891,2	K562	blood:
7	chr11:85658393..85660866-chr11:85673008..85675889,3	K562	blood:
8	chr11:85659572..85662083-chr11:85672337..85675238,2	MCF-7	breast:
9	chr11:85658382..85661257-chr11:85664114..85666367,2	K562	blood:

No data

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10501602	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11821654	0.83[EUR][1000 genomes]
rs12787412	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12787418	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12787556	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12787654	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12788654	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12788680	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12790526	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12790645	0.82[EUR][1000 genomes]
rs12791520	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12794211	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12795381	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12795833	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12798065	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12798229	0.83[EUR][1000 genomes]
rs12798898	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12802064	0.83[EUR][1000 genomes]
rs12802399	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12804751	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12804833	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12805520	0.83[EUR][1000 genomes]
rs17148704	0.87[ASN][1000 genomes]
rs17745024	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17817600	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17817648	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17817931	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17817992	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28365806	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3213934	0.82[EUR][1000 genomes]
rs34003294	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34332755	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34584483	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34609418	0.83[EUR][1000 genomes]
rs34631477	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34675784	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34700169	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34766621	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34874199	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34959028	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35206999	0.87[ASN][1000 genomes]
rs35220752	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35519080	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35585561	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35866111	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35992035	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41489645	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55932210	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56094546	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56191920	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66494408	0.85[EUR][1000 genomes]
rs66802900	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67282763	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67682051	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67719619	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118279	0.83[EUR][1000 genomes]
rs71465608	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71465611	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[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	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv1035489	chr11:85502953-85778229	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1048818	chr11:85524635-85746473	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv541116	chr11:85524635-85746473	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1053808	chr11:85588919-85757693	Strong transcription Weak transcription Enhancers Flanking Active TSS 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	12 gene(s)	inside rSNPs	diseases
7	nsv1053599	chr11:85641619-85684353	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv1040567	chr11:85641619-85684935	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85646600-85667400	Weak transcription	Gastric	stomach
2	chr11:85652800-85664400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:85652800-85668800	Weak transcription	Small Intestine	intestine
4	chr11:85656000-85661000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:85656000-85679800	Weak transcription	Fetal Brain Male	brain
6	chr11:85656200-85661000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:85656600-85662400	Enhancers	HepG2	liver
8	chr11:85656800-85661400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:85657000-85661000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:85657200-85665600	Weak transcription	Lung	lung
11	chr11:85657400-85660800	Enhancers	Osteobl	bone
12	chr11:85657600-85665600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:85657600-85666600	Weak transcription	Spleen	Spleen
14	chr11:85657800-85661400	Enhancers	GM12878-XiMat	blood
15	chr11:85657800-85664200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:85658400-85666600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:85658400-85667400	Weak transcription	Pancreas	Pancrea
18	chr11:85658600-85661000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr11:85658600-85664400	Weak transcription	Primary B cells from cord blood	blood
20	chr11:85658600-85664400	Weak transcription	Liver	Liver
21	chr11:85658600-85664600	Weak transcription	Fetal Thymus	thymus
22	chr11:85658600-85665400	Weak transcription	Aorta	Aorta
23	chr11:85658600-85665400	Weak transcription	Left Ventricle	heart
24	chr11:85658600-85667400	Weak transcription	Esophagus	oesophagus
25	chr11:85658600-85673000	Weak transcription	Right Ventricle	heart
26	chr11:85658800-85664600	Weak transcription	Thymus	Thymus
27	chr11:85658800-85665400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr11:85659000-85661000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:85659000-85665000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr11:85659200-85664400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr11:85659400-85664400	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr11:85659400-85664400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr11:85659400-85664600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr11:85659400-85665400	Weak transcription	Right Atrium	heart
35	chr11:85659400-85665400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr11:85659400-85666400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr11:85659400-85745800	Weak transcription	Stomach Mucosa	stomach
38	chr11:85659600-85664200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:85659600-85664400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr11:85659600-85664400	Weak transcription	HSMMtube	muscle
41	chr11:85659600-85664600	Weak transcription	Fetal Stomach	stomach
42	chr11:85659600-85666200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr11:85659600-85666400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:85659800-85666800	Weak transcription	Fetal Lung	lung
45	chr11:85660000-85666400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr11:85660200-85660800	Weak transcription	Ovary	ovary
47	chr11:85660200-85662200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:85660200-85664200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:85660200-85664200	Weak transcription	Brain Anterior Caudate	brain
50	chr11:85660200-85664400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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