Variant report

Variant	rs73705880
Chromosome Location	chr8:121023771-121023772
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121022166..121023935-chr8:121042029..121044989,2	K562	blood:
2	chr8:121022467..121024614-chr8:121031639..121034305,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs58540379	1.00[AFR][1000 genomes]
rs59835121	1.00[AFR][1000 genomes]
rs61514881	1.00[AFR][1000 genomes]
rs73705867	1.00[AFR][1000 genomes]
rs73705870	1.00[AFR][1000 genomes]
rs73705873	1.00[AFR][1000 genomes]
rs73705878	1.00[AFR][1000 genomes]
rs73705881	1.00[AFR][1000 genomes]
rs73705882	1.00[AFR][1000 genomes]
rs73705883	1.00[AFR][1000 genomes]
rs73705884	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv891419	chr8:120990455-121047798	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv528628	chr8:121019737-121023967	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120995600-121038400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:121004000-121048000	Weak transcription	Stomach Mucosa	stomach
3	chr8:121004600-121041400	Weak transcription	Brain Angular Gyrus	brain
4	chr8:121005200-121045800	Weak transcription	Psoas Muscle	Psoas
5	chr8:121013200-121029600	Weak transcription	Right Ventricle	heart
6	chr8:121013800-121024200	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr8:121015400-121031600	Weak transcription	Fetal Lung	lung
8	chr8:121015600-121029200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr8:121016000-121025600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:121016000-121031800	Weak transcription	Pancreas	Pancrea
11	chr8:121017000-121067000	Weak transcription	Brain Anterior Caudate	brain
12	chr8:121017200-121029600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:121017800-121042000	Weak transcription	Fetal Kidney	kidney
14	chr8:121018200-121031000	Weak transcription	Spleen	Spleen
15	chr8:121018800-121023800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:121019000-121042000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr8:121019800-121027400	Weak transcription	Fetal Stomach	stomach
18	chr8:121020000-121025200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:121020000-121030800	Weak transcription	Gastric	stomach
20	chr8:121020000-121044800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr8:121020000-121046000	Weak transcription	Esophagus	oesophagus
22	chr8:121020200-121025800	Weak transcription	Liver	Liver
23	chr8:121020200-121027400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr8:121021400-121027600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr8:121021600-121025800	Weak transcription	Fetal Intestine Small	intestine
26	chr8:121021600-121027200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr8:121021600-121029600	Weak transcription	Fetal Muscle Leg	muscle
28	chr8:121021600-121038000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr8:121021600-121042000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr8:121022000-121024400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:121022000-121030000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:121022000-121031600	Weak transcription	Brain Substantia Nigra	brain
33	chr8:121022200-121026400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr8:121022200-121048200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr8:121022400-121030200	Weak transcription	Brain Hippocampus Middle	brain
36	chr8:121022400-121065400	Weak transcription	Left Ventricle	heart
37	chr8:121022800-121053000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr8:121023000-121023800	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr8:121023000-121027600	Weak transcription	Fetal Intestine Large	intestine
40	chr8:121023200-121023800	Enhancers	Stomach Smooth Muscle	stomach
41	chr8:121023200-121024000	Enhancers	Rectal Smooth Muscle	rectum
42	chr8:121023200-121024400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:121023400-121023800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr8:121023400-121023800	Enhancers	Ovary	ovary
45	chr8:121023400-121024000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:121023400-121024000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:121023600-121024200	Enhancers	Colon Smooth Muscle	Colon

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