Variant report

Variant	rs11988434
Chromosome Location	chr8:120945222-120945223
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	chr8:120939661..120942312-chr8:120943656..120945414,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10107579	0.88[ASN][1000 genomes]
rs10808505	0.92[ASN][1000 genomes]
rs10955943	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786315	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1464276	0.92[ASN][1000 genomes]
rs2037346	0.92[ASN][1000 genomes]
rs4871787	0.92[ASN][1000 genomes]
rs55892034	0.92[ASN][1000 genomes]
rs56864850	0.92[ASN][1000 genomes]
rs6469878	0.92[ASN][1000 genomes]
rs7005380	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7814294	0.92[ASN][1000 genomes]
rs9918814	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9918815	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9987332	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv972194	chr8:120898451-120965081	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv1018953	chr8:120910380-120954832	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120933000-120946000	Weak transcription	Placenta	Placenta
2	chr8:120933000-120948600	Weak transcription	Colonic Mucosa	Colon
3	chr8:120933000-120948800	Weak transcription	Esophagus	oesophagus
4	chr8:120933200-120946400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:120933200-120946600	Weak transcription	Lung	lung
6	chr8:120933200-120953600	Weak transcription	Right Ventricle	heart
7	chr8:120934000-120950000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:120935400-120959200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:120935800-120963200	Weak transcription	Psoas Muscle	Psoas
10	chr8:120937800-120946800	Weak transcription	Stomach Mucosa	stomach
11	chr8:120939400-120948400	Weak transcription	Brain Anterior Caudate	brain
12	chr8:120939600-120946600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:120939600-120959200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:120940200-120951000	Weak transcription	Osteobl	bone
15	chr8:120940600-120945600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:120940600-120947600	Strong transcription	Liver	Liver
17	chr8:120940600-120950200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:120940600-120950200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:120940800-120947400	Strong transcription	Ovary	ovary
20	chr8:120941200-120948800	Strong transcription	Fetal Muscle Leg	muscle
21	chr8:120941400-120947200	Strong transcription	Fetal Intestine Large	intestine
22	chr8:120941600-120945400	Strong transcription	Duodenum Mucosa	Duodenum
23	chr8:120941800-120953200	Weak transcription	Fetal Lung	lung
24	chr8:120942200-120945800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr8:120942200-120946400	Weak transcription	Brain Angular Gyrus	brain
26	chr8:120942200-120946600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr8:120942400-120946400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr8:120942400-120947400	Strong transcription	Fetal Stomach	stomach
29	chr8:120942800-120948800	Strong transcription	Stomach Smooth Muscle	stomach
30	chr8:120943200-120946600	Weak transcription	Pancreas	Pancrea
31	chr8:120943600-120946600	Weak transcription	Left Ventricle	heart
32	chr8:120943800-120945400	Weak transcription	Fetal Intestine Small	intestine
33	chr8:120943800-120946600	Weak transcription	Brain Substantia Nigra	brain
34	chr8:120943800-120951400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr8:120944000-120946600	Weak transcription	Gastric	stomach
36	chr8:120944000-120959200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr8:120944400-120946200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:120944400-120946600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:120944400-120946600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:120944400-120947200	Enhancers	Fetal Thymus	thymus
41	chr8:120944800-120945600	Enhancers	Primary hematopoietic stem cells	blood
42	chr8:120944800-120945800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr8:120944800-120946600	Weak transcription	Brain Hippocampus Middle	brain
44	chr8:120944800-120946800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:120944800-120947000	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr8:120944800-120947200	Weak transcription	Colon Smooth Muscle	Colon
47	chr8:120945000-120946400	Enhancers	GM12878-XiMat	blood
48	chr8:120945000-120946600	Weak transcription	Adipose Nuclei	Adipose
49	chr8:120945000-120946800	Enhancers	Thymus	Thymus
50	chr8:120945000-120947200	Enhancers	Primary monocytes fromperipheralblood	blood

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