Variant report

Variant	rs73254743
Chromosome Location	chr8:87421957-87421958
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10090107	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10101280	0.89[EUR][1000 genomes]
rs10101337	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10101658	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10106735	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10107469	0.88[EUR][1000 genomes]
rs1054738	0.87[EUR][1000 genomes]
rs16907490	1.00[EUR][1000 genomes]
rs16911667	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16912199	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16914543	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28446298	1.00[EUR][1000 genomes]
rs28504305	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28593581	0.91[AFR][1000 genomes]
rs28801137	1.00[EUR][1000 genomes]
rs3916649	1.00[EUR][1000 genomes]
rs56280479	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60177164	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61661701	1.00[EUR][1000 genomes]
rs7012745	0.88[EUR][1000 genomes]
rs73254771	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73257062	0.88[EUR][1000 genomes]
rs73271003	1.00[EUR][1000 genomes]
rs73273124	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs73688826	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7461904	0.88[EUR][1000 genomes]
rs7464360	0.88[EUR][1000 genomes]
rs7812422	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7839610	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7841007	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7841939	1.00[EUR][1000 genomes]
rs9656826	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv429926	chr8:87161695-87429872	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87366800-87423800	Weak transcription	Colonic Mucosa	Colon
2	chr8:87379600-87444000	Weak transcription	Brain Germinal Matrix	brain
3	chr8:87381000-87430800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr8:87381200-87425600	Weak transcription	K562	blood
5	chr8:87382400-87444000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:87385000-87438000	Weak transcription	Fetal Brain Male	brain
7	chr8:87388400-87430600	Weak transcription	Fetal Kidney	kidney
8	chr8:87388600-87441200	Weak transcription	Right Ventricle	heart
9	chr8:87397400-87431200	Weak transcription	Fetal Brain Female	brain
10	chr8:87398800-87425800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr8:87399600-87423400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr8:87399800-87429000	Weak transcription	Thymus	Thymus
13	chr8:87400400-87423800	Weak transcription	GM12878-XiMat	blood
14	chr8:87400800-87424000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:87402400-87425400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:87403000-87429000	Weak transcription	Gastric	stomach
17	chr8:87403000-87430600	Weak transcription	Esophagus	oesophagus
18	chr8:87404200-87426600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr8:87404200-87440600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr8:87404400-87425800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr8:87404400-87428400	Weak transcription	Brain Angular Gyrus	brain
22	chr8:87404400-87429000	Weak transcription	Aorta	Aorta
23	chr8:87404400-87429000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:87404600-87423800	Weak transcription	Colon Smooth Muscle	Colon
25	chr8:87404600-87425200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr8:87404600-87425600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:87404600-87425600	Weak transcription	Brain Substantia Nigra	brain
28	chr8:87404600-87426000	Weak transcription	Brain Hippocampus Middle	brain
29	chr8:87404600-87428000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:87405200-87426600	Weak transcription	Brain Anterior Caudate	brain
31	chr8:87405400-87426000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr8:87405400-87443600	Weak transcription	NHLF	lung
33	chr8:87405800-87429200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:87406000-87425800	Strong transcription	Liver	Liver
35	chr8:87406000-87433000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr8:87406200-87423800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:87406200-87425800	Weak transcription	HSMMtube	muscle
38	chr8:87406400-87428200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:87406600-87425600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr8:87406800-87425600	Weak transcription	NHEK	skin
41	chr8:87406800-87437400	Weak transcription	HSMM	muscle
42	chr8:87409000-87435000	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr8:87409200-87440800	Weak transcription	Spleen	Spleen
44	chr8:87410600-87422400	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr8:87411200-87422200	Strong transcription	Duodenum Mucosa	Duodenum
46	chr8:87411200-87429000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr8:87411400-87429600	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr8:87412800-87425000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:87412800-87427600	Strong transcription	Dnd41	blood
50	chr8:87413000-87422200	Strong transcription	Fetal Intestine Large	intestine

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