Variant report

Variant	rs2000871
Chromosome Location	chr11:120479478-120479479
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	chr11:120471375..120475436-chr11:120476870..120481241,3	K562	blood:
2	chr11:120107869..120109638-chr11:120477863..120480013,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10502238	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1317176	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs17124050	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs17124061	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17124103	1.00[AFR][1000 genomes]
rs1815896	0.96[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4245038	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4935744	0.81[ASN][1000 genomes]
rs4936524	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4936527	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4936530	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4936531	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73590044	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1036102	chr11:120442895-120498908	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv468881	chr11:120446830-120551100	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv556476	chr11:120446830-120551100	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120475000-120481400	Enhancers	Fetal Lung	lung
2	chr11:120476400-120482600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:120477600-120480200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:120478200-120481600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr11:120478200-120482000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr11:120478400-120480600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:120478400-120481400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:120478400-120482400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr11:120478600-120480200	Enhancers	Ovary	ovary
10	chr11:120478600-120481600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr11:120478800-120480000	Enhancers	Fetal Intestine Small	intestine
12	chr11:120478800-120481200	Weak transcription	GM12878-XiMat	blood
13	chr11:120478800-120484400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:120479000-120479800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr11:120479000-120479800	Enhancers	Stomach Mucosa	stomach
16	chr11:120479000-120480200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr11:120479000-120480200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr11:120479000-120480200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr11:120479000-120481200	Enhancers	Fetal Brain Female	brain
20	chr11:120479000-120481600	Enhancers	Brain Hippocampus Middle	brain
21	chr11:120479200-120479600	Enhancers	Duodenum Mucosa	Duodenum
22	chr11:120479200-120479600	Enhancers	Pancreas	Pancrea
23	chr11:120479200-120479800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:120479200-120479800	Enhancers	Brain Cingulate Gyrus	brain
25	chr11:120479200-120480000	Enhancers	H9 Cell Line	embryonic stem cell
26	chr11:120479200-120480000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:120479200-120480000	Enhancers	Liver	Liver
28	chr11:120479200-120480000	Enhancers	Brain Germinal Matrix	brain
29	chr11:120479200-120480000	Enhancers	Fetal Intestine Large	intestine
30	chr11:120479200-120480000	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr11:120479200-120480200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:120479200-120480200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr11:120479200-120480200	Enhancers	Fetal Muscle Trunk	muscle
34	chr11:120479200-120483600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr11:120479400-120479600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:120479400-120480000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:120479400-120480000	Enhancers	Adipose Nuclei	Adipose
38	chr11:120479400-120480000	Enhancers	Brain Anterior Caudate	brain
39	chr11:120479400-120480000	Enhancers	Brain Substantia Nigra	brain
40	chr11:120479400-120480000	Weak transcription	Fetal Kidney	kidney
41	chr11:120479400-120480000	Enhancers	Left Ventricle	heart
42	chr11:120479400-120480000	Enhancers	Osteobl	bone
43	chr11:120479400-120480200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:120479400-120480200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:120479400-120480200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:120479400-120480200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:120479400-120480200	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr11:120479400-120480200	Enhancers	Colon Smooth Muscle	Colon
49	chr11:120479400-120480200	Enhancers	Fetal Muscle Leg	muscle
50	chr11:120479400-120480200	Enhancers	Skeletal Muscle Female	skeletal muscle

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