Variant report

Variant	rs73295103
Chromosome Location	chr8:105512618-105512619
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:105494376-105512670	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:105511204..105512994-chr8:105513292..105516269,2	MCF-7	breast:

Variant related genes	Relation type
LRP12	TF binding region

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs35163714	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4427139	1.00[AMR][1000 genomes]
rs57061880	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57149580	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59042845	1.00[AMR][1000 genomes]
rs59429525	1.00[AMR][1000 genomes]
rs60616186	1.00[AMR][1000 genomes]
rs61148214	1.00[AMR][1000 genomes]
rs61360760	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293276	0.86[AFR][1000 genomes]
rs73293278	0.81[AFR][1000 genomes]
rs73293290	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293292	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293298	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295108	0.84[AFR][1000 genomes]
rs73295113	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295116	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295148	1.00[AMR][1000 genomes]
rs73295155	1.00[AMR][1000 genomes]
rs73295157	1.00[AMR][1000 genomes]
rs73295168	1.00[AMR][1000 genomes]
rs73295174	1.00[AMR][1000 genomes]
rs73295188	1.00[AMR][1000 genomes]
rs73297103	1.00[AMR][1000 genomes]
rs73297116	1.00[AMR][1000 genomes]
rs73297130	1.00[AMR][1000 genomes]
rs73297134	1.00[AMR][1000 genomes]
rs73297137	1.00[AMR][1000 genomes]
rs73297149	1.00[AMR][1000 genomes]
rs7813481	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7832864	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105489400-105512800	Weak transcription	Gastric	stomach
2	chr8:105491400-105517200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:105495600-105525800	Weak transcription	Psoas Muscle	Psoas
4	chr8:105499200-105542200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:105500800-105519800	Strong transcription	Dnd41	blood
6	chr8:105501400-105515000	Weak transcription	Spleen	Spleen
7	chr8:105501400-105516200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:105501400-105517400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:105501400-105517400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:105501600-105520800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:105501800-105518800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:105501800-105521000	Weak transcription	NHEK	skin
13	chr8:105502000-105518400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:105503600-105519000	Weak transcription	Fetal Intestine Small	intestine
15	chr8:105503600-105520800	Weak transcription	Pancreas	Pancrea
16	chr8:105503600-105525800	Weak transcription	HUVEC	blood vessel
17	chr8:105503800-105516200	Weak transcription	Colon Smooth Muscle	Colon
18	chr8:105503800-105525000	Weak transcription	Fetal Stomach	stomach
19	chr8:105503800-105535800	Weak transcription	NHDF-Ad	bronchial
20	chr8:105505000-105513200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:105505000-105515800	Weak transcription	A549	lung
22	chr8:105505400-105521800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr8:105506000-105520800	Weak transcription	Brain Angular Gyrus	brain
24	chr8:105506400-105520000	Weak transcription	Right Ventricle	heart
25	chr8:105507400-105513000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:105509200-105512800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:105509200-105512800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:105509600-105535800	Weak transcription	Aorta	Aorta
29	chr8:105510200-105514400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:105510200-105516000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr8:105510200-105516200	Weak transcription	Fetal Muscle Leg	muscle
32	chr8:105510200-105516200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr8:105510200-105519800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:105510200-105520400	Weak transcription	Lung	lung
35	chr8:105510200-105521200	Weak transcription	Brain Substantia Nigra	brain
36	chr8:105510200-105524600	Weak transcription	NHLF	lung
37	chr8:105510200-105525400	Weak transcription	Primary T cells from cord blood	blood
38	chr8:105510200-105546200	Weak transcription	HMEC	breast
39	chr8:105510400-105514400	Weak transcription	Brain Hippocampus Middle	brain
40	chr8:105510400-105514400	Weak transcription	Thymus	Thymus
41	chr8:105510400-105514400	Weak transcription	K562	blood
42	chr8:105510400-105516600	Weak transcription	Ovary	ovary
43	chr8:105510400-105521600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr8:105510400-105539400	Weak transcription	HSMMtube	muscle
45	chr8:105510800-105531000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr8:105511000-105512800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr8:105511000-105513200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:105511000-105514200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr8:105511000-105514400	Weak transcription	Left Ventricle	heart
50	chr8:105511000-105515200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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