Variant report

Variant	rs73634682
Chromosome Location	chr8:42701618-42701619
allele	C/T
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	chr8:42701570-42701654	HepG2	liver:	n/a	n/a
2	POLR2A	chr8:42701570-42701640	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:42701524..42703280-chr8:42749314..42751061,2	MCF-7	breast:
2	chr8:42698183..42700093-chr8:42700125..42702939,2	MCF-7	breast:
3	chr8:42698945..42701750-chr8:42716585..42718500,2	K562	blood:

Variant related genes	Relation type
THAP1	TF binding region
ENSG00000131931	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10453137	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11984732	1.00[EUR][1000 genomes]
rs11986255	1.00[AMR][1000 genomes]
rs11987452	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11988102	1.00[AMR][1000 genomes]
rs11988227	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11988823	1.00[AMR][1000 genomes]
rs11990369	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11991133	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11992397	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11992567	0.85[AMR][1000 genomes]
rs11992660	0.88[AFR][1000 genomes]
rs11992682	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11992987	0.89[AFR][1000 genomes]
rs11993667	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11994115	0.89[AFR][1000 genomes]
rs11994318	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11995172	0.89[AFR][1000 genomes]
rs11995473	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11996604	1.00[AMR][1000 genomes]
rs11997992	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17622134	1.00[EUR][1000 genomes]
rs17694846	0.95[EUR][1000 genomes]
rs2194902	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28799623	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28840077	0.89[AFR][1000 genomes]
rs34489103	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35506493	0.96[AFR][1000 genomes]
rs57363090	0.81[EUR][1000 genomes]
rs57986156	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58081556	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58384533	0.95[EUR][1000 genomes]
rs58641534	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59164172	0.85[AMR][1000 genomes]
rs59177170	1.00[AMR][1000 genomes]
rs59213790	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59531993	1.00[EUR][1000 genomes]
rs59805921	0.95[EUR][1000 genomes]
rs60133450	0.89[AFR][1000 genomes]
rs60443202	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60782941	0.86[AFR][1000 genomes]
rs61733908	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7004940	0.81[EUR][1000 genomes]
rs7008140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627229	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627242	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73627249	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73627250	0.85[AFR][1000 genomes]
rs73627252	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73627261	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73627273	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73627274	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73627276	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73627278	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73627280	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73627282	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73627288	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73627294	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73629103	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73629108	0.83[AFR][1000 genomes]
rs73629110	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73629152	0.85[AMR][1000 genomes]
rs73629156	0.85[AMR][1000 genomes]
rs73634652	0.91[AFR][1000 genomes]
rs73634659	0.87[EUR][1000 genomes]
rs73634666	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73634670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73634673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73634677	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73634696	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73635313	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73635316	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73635325	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635331	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635345	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635352	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635357	0.83[AFR][1000 genomes]
rs73635362	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635364	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635365	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635366	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635368	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635370	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7820326	1.00[EUR][1000 genomes]
rs7838845	0.85[AMR][1000 genomes];0.90[EUR][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	nsv530880	chr8:41895241-42755506	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers 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 miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv428516	chr8:42577171-42731235	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
4	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42698800-42705000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:42698800-42705200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:42698800-42713800	Weak transcription	Spleen	Spleen
4	chr8:42699000-42704600	Weak transcription	Brain Substantia Nigra	brain
5	chr8:42699000-42705000	Weak transcription	Primary T cells from cord blood	blood
6	chr8:42699000-42705000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:42699000-42708400	Weak transcription	Ovary	ovary
8	chr8:42699000-42708800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:42699000-42709400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr8:42699000-42711400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr8:42699000-42713000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:42699000-42713800	Weak transcription	Gastric	stomach
13	chr8:42699000-42713800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:42699200-42704400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:42699200-42711200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:42699200-42713200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr8:42699200-42713400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:42699200-42736400	Weak transcription	Thymus	Thymus
19	chr8:42699400-42704400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:42699400-42704400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr8:42699400-42704400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr8:42699400-42704400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr8:42699400-42704400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr8:42699400-42704800	Weak transcription	Brain Hippocampus Middle	brain
25	chr8:42699400-42704800	Weak transcription	Fetal Lung	lung
26	chr8:42699400-42705000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:42699400-42705000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr8:42699400-42705000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr8:42699400-42705000	Weak transcription	Fetal Brain Female	brain
30	chr8:42699400-42705000	Weak transcription	Fetal Stomach	stomach
31	chr8:42699400-42705200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:42699400-42705200	Weak transcription	Adipose Nuclei	Adipose
33	chr8:42699400-42705200	Weak transcription	Brain Anterior Caudate	brain
34	chr8:42699400-42705200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:42699400-42705200	Weak transcription	Fetal Intestine Small	intestine
36	chr8:42699400-42705200	Weak transcription	Lung	lung
37	chr8:42699400-42705400	Weak transcription	Brain Germinal Matrix	brain
38	chr8:42699400-42706200	Weak transcription	Fetal Muscle Leg	muscle
39	chr8:42699400-42708200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:42699400-42708200	Weak transcription	Osteobl	bone
41	chr8:42699400-42708400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:42699400-42708400	Weak transcription	HSMM	muscle
43	chr8:42699400-42708400	Weak transcription	HSMMtube	muscle
44	chr8:42699400-42708400	Weak transcription	NHLF	lung
45	chr8:42699400-42708600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:42699400-42708600	Weak transcription	NHDF-Ad	bronchial
47	chr8:42699400-42709000	Weak transcription	Primary B cells from cord blood	blood
48	chr8:42699400-42709000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr8:42699400-42709000	Weak transcription	Liver	Liver
50	chr8:42699400-42709800	Weak transcription	Rectal Mucosa Donor 29	rectum

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