Variant report

Variant	rs9483240
Chromosome Location	chr6:131572347-131572348
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10046185	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10080261	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17574609	1.00[EUR][1000 genomes]
rs17651884	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28706329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3777491	0.86[EUR][1000 genomes]
rs59991654	1.00[EUR][1000 genomes]
rs6929954	0.83[EUR][1000 genomes]
rs73775592	0.83[EUR][1000 genomes]
rs9321279	1.00[EUR][1000 genomes]
rs9483231	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9483232	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9483234	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9483235	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9492863	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9492872	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9492876	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9492885	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv830807	chr6:131390952-131581931	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv886664	chr6:131443843-131754930	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv886665	chr6:131518894-131611309	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv830808	chr6:131521115-131735320	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
7	esv1835599	chr6:131554291-131590766	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131563000-131580000	Weak transcription	Small Intestine	intestine
2	chr6:131566800-131576200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:131567200-131576400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr6:131571000-131572400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr6:131571000-131572400	Enhancers	Primary B cells from peripheral blood	blood
6	chr6:131571000-131573600	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr6:131571000-131573600	Active TSS	Duodenum Mucosa	Duodenum
8	chr6:131571000-131573800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr6:131571000-131574000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:131571000-131574400	Active TSS	Brain Germinal Matrix	brain
11	chr6:131571000-131574400	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr6:131571000-131574400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:131571000-131574400	Active TSS	Fetal Intestine Large	intestine
14	chr6:131571200-131572400	Active TSS	Fetal Kidney	kidney
15	chr6:131571200-131572400	Active TSS	Fetal Muscle Trunk	muscle
16	chr6:131571200-131572400	Active TSS	Ovary	ovary
17	chr6:131571200-131572400	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr6:131571200-131572600	Flanking Active TSS	Dnd41	blood
19	chr6:131571200-131572800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:131571200-131573000	Active TSS	Fetal Stomach	stomach
21	chr6:131571200-131573000	Active TSS	Rectal Smooth Muscle	rectum
22	chr6:131571200-131573200	Active TSS	Right Atrium	heart
23	chr6:131571200-131573400	Active TSS	Fetal Brain Male	brain
24	chr6:131571200-131573400	Active TSS	Fetal Intestine Small	intestine
25	chr6:131571200-131573400	Active TSS	Fetal Muscle Leg	muscle
26	chr6:131571200-131573600	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr6:131571200-131573800	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr6:131571200-131574000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr6:131571200-131574000	Active TSS	Brain Hippocampus Middle	brain
30	chr6:131571200-131574200	Active TSS	Brain Cingulate Gyrus	brain
31	chr6:131571200-131574200	Active TSS	Fetal Brain Female	brain
32	chr6:131571200-131574400	Active TSS	Brain Angular Gyrus	brain
33	chr6:131571200-131575200	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr6:131571400-131572400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:131571400-131572400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr6:131571400-131572400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr6:131571400-131572400	Active TSS	Colonic Mucosa	Colon
38	chr6:131571400-131572400	Active TSS	Right Ventricle	heart
39	chr6:131571400-131572800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr6:131571400-131573000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:131571400-131573200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr6:131571400-131573400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr6:131571400-131573400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr6:131571600-131573200	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr6:131571600-131573800	Enhancers	Colon Smooth Muscle	Colon
46	chr6:131571600-131574000	Active TSS	H9 Cell Line	embryonic stem cell
47	chr6:131571800-131572400	Active TSS	H1 Cell Line	embryonic stem cell
48	chr6:131571800-131572400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:131571800-131572400	Enhancers	HMEC	breast
50	chr6:131571800-131572600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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