Variant report

Variant	rs73315145
Chromosome Location	chr8:121439275-121439276
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs16893921	0.84[AFR][1000 genomes]
rs16893924	0.88[AFR][1000 genomes]
rs16893958	0.80[AFR][1000 genomes]
rs60062153	1.00[AFR][1000 genomes]
rs73315116	1.00[AFR][1000 genomes]
rs73315127	1.00[AFR][1000 genomes]
rs73315155	0.92[AFR][1000 genomes]
rs73315158	0.92[AFR][1000 genomes]
rs73315178	1.00[AFR][1000 genomes]
rs73315186	1.00[AFR][1000 genomes]
rs73315188	1.00[AFR][1000 genomes]
rs73317229	0.84[AFR][1000 genomes]
rs73331032	0.88[AFR][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	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1033386	chr8:121369943-121501239	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	esv996748	chr8:121433689-121442089	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv470235	chr8:121437222-121526747	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121402000-121456400	Weak transcription	Small Intestine	intestine
2	chr8:121404400-121454400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr8:121404600-121456000	Weak transcription	Colonic Mucosa	Colon
4	chr8:121405000-121456000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:121405600-121455600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:121407800-121442800	Weak transcription	NHEK	skin
7	chr8:121408200-121450400	Weak transcription	Psoas Muscle	Psoas
8	chr8:121408400-121442800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr8:121409800-121446200	Weak transcription	Right Ventricle	heart
10	chr8:121410200-121456400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:121410200-121456600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:121410600-121456600	Weak transcription	Gastric	stomach
13	chr8:121410600-121456600	Weak transcription	Spleen	Spleen
14	chr8:121411000-121443600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:121411000-121456000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:121412600-121450400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr8:121412800-121456000	Weak transcription	Fetal Brain Male	brain
18	chr8:121413600-121454800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:121415800-121443400	Weak transcription	Brain Germinal Matrix	brain
20	chr8:121415800-121450200	Weak transcription	Pancreas	Pancrea
21	chr8:121415800-121452200	Weak transcription	Fetal Brain Female	brain
22	chr8:121415800-121456400	Weak transcription	Esophagus	oesophagus
23	chr8:121417000-121455800	Weak transcription	NHLF	lung
24	chr8:121417000-121456000	Weak transcription	Brain Substantia Nigra	brain
25	chr8:121417000-121456400	Weak transcription	Fetal Kidney	kidney
26	chr8:121417200-121450400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr8:121417200-121456000	Weak transcription	Brain Hippocampus Middle	brain
28	chr8:121417200-121456000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr8:121417400-121454200	Weak transcription	HSMMtube	muscle
30	chr8:121417400-121455800	Weak transcription	Aorta	Aorta
31	chr8:121417400-121455800	Weak transcription	Colon Smooth Muscle	Colon
32	chr8:121417800-121440200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:121417800-121440800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:121417800-121450200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:121417800-121451000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr8:121417800-121456400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:121418000-121441000	Weak transcription	Fetal Lung	lung
38	chr8:121418000-121450400	Weak transcription	A549	lung
39	chr8:121423600-121450400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:121423600-121455800	Weak transcription	Thymus	Thymus
41	chr8:121423600-121456000	Weak transcription	Fetal Intestine Small	intestine
42	chr8:121423600-121456000	Weak transcription	Ovary	ovary
43	chr8:121423600-121456400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:121423600-121456400	Weak transcription	Lung	lung
45	chr8:121423800-121456000	Weak transcription	Fetal Stomach	stomach
46	chr8:121424000-121442400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:121424800-121456000	Weak transcription	Brain Anterior Caudate	brain
48	chr8:121425000-121441200	Weak transcription	Primary T cells from cord blood	blood
49	chr8:121425000-121448400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr8:121425000-121449000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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