Variant report

Variant	rs7007554
Chromosome Location	chr8:120941953-120941954
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120941559..120943769-chr8:120948153..120949858,2	K562	blood:
2	chr8:120940406..120942141-chr8:120945749..120947949,2	K562	blood:
3	chr8:120939661..120942312-chr8:120943656..120945414,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1034527	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10505375	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10955944	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11985028	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1509347	1.00[CHB][hapmap]
rs1519809	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1519810	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16892877	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs16893285	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17820965	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs55666486	0.81[ASN][1000 genomes]
rs56331180	0.87[ASN][1000 genomes]
rs56658648	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6469877	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6983678	0.87[ASN][1000 genomes]
rs6984206	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6988573	0.87[ASN][1000 genomes]
rs6993270	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6999635	0.87[ASN][1000 genomes]
rs6999724	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7000890	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7004488	0.87[ASN][1000 genomes]
rs7008908	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7011167	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7014200	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7016479	0.81[ASN][1000 genomes]
rs7017583	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs73703619	0.87[ASN][1000 genomes]
rs73705828	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7465212	0.89[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7814126	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7818752	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120926200-120944400	Weak transcription	Primary T cells from cord blood	blood
2	chr8:120932000-120944800	Weak transcription	Aorta	Aorta
3	chr8:120933000-120944400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:120933000-120946000	Weak transcription	Placenta	Placenta
5	chr8:120933000-120948600	Weak transcription	Colonic Mucosa	Colon
6	chr8:120933000-120948800	Weak transcription	Esophagus	oesophagus
7	chr8:120933200-120942000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr8:120933200-120942800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:120933200-120943200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr8:120933200-120944200	Weak transcription	Fetal Brain Female	brain
11	chr8:120933200-120946400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr8:120933200-120946600	Weak transcription	Lung	lung
13	chr8:120933200-120953600	Weak transcription	Right Ventricle	heart
14	chr8:120933600-120942800	Weak transcription	Pancreas	Pancrea
15	chr8:120934000-120942600	Weak transcription	Gastric	stomach
16	chr8:120934000-120950000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:120935400-120959200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr8:120935800-120963200	Weak transcription	Psoas Muscle	Psoas
19	chr8:120937600-120942400	Weak transcription	Fetal Intestine Small	intestine
20	chr8:120937600-120942400	Weak transcription	Fetal Stomach	stomach
21	chr8:120937800-120946800	Weak transcription	Stomach Mucosa	stomach
22	chr8:120939400-120948400	Weak transcription	Brain Anterior Caudate	brain
23	chr8:120939600-120946600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr8:120939600-120959200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:120940200-120944400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:120940200-120951000	Weak transcription	Osteobl	bone
27	chr8:120940600-120942200	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr8:120940600-120943600	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr8:120940600-120944000	Strong transcription	Primary hematopoietic stem cells	blood
30	chr8:120940600-120945600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr8:120940600-120947600	Strong transcription	Liver	Liver
32	chr8:120940600-120950200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:120940600-120950200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:120940800-120944400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:120940800-120944600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:120940800-120944800	Strong transcription	Colon Smooth Muscle	Colon
37	chr8:120940800-120947400	Strong transcription	Ovary	ovary
38	chr8:120941000-120942400	Strong transcription	Left Ventricle	heart
39	chr8:120941200-120942400	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr8:120941200-120943600	Strong transcription	Adipose Nuclei	Adipose
41	chr8:120941200-120943800	Strong transcription	Fetal Kidney	kidney
42	chr8:120941200-120945200	Strong transcription	Fetal Muscle Trunk	muscle
43	chr8:120941200-120948800	Strong transcription	Fetal Muscle Leg	muscle
44	chr8:120941400-120943600	Strong transcription	Brain Substantia Nigra	brain
45	chr8:120941400-120944400	Strong transcription	Brain Hippocampus Middle	brain
46	chr8:120941400-120947200	Strong transcription	Fetal Intestine Large	intestine
47	chr8:120941600-120942200	Enhancers	Brain Angular Gyrus	brain
48	chr8:120941600-120942200	Enhancers	Brain Cingulate Gyrus	brain
49	chr8:120941600-120943800	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr8:120941600-120945400	Strong transcription	Duodenum Mucosa	Duodenum

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