Variant report

Variant	rs73634670
Chromosome Location	chr8:42699163-42699164
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr8:42697505-42699400	GM12878	blood:	n/a	n/a
2	MAX	chr8:42699056-42699415	K562	blood:	n/a	n/a
3	GATA3	chr8:42699110-42699617	T-47D	breast:	n/a	n/a
4	POLR2A	chr8:42699092-42699441	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr8:42697055-42699309	GM12878	blood:	n/a	n/a
6	POLR2A	chr8:42699093-42699394	K562	blood:	n/a	n/a
7	REST	chr8:42697135-42699181	H1-neurons	neurons:	n/a	chr8:42698508-42698528
8	POLR2A	chr8:42697614-42699355	K562	blood:	n/a	n/a
9	POLR2A	chr8:42697452-42699363	GM12891	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:42696684..42700108-chr8:42749367..42753632,16	K562	blood:
2	chr8:42697938..42699584-chr8:42910062..42912645,3	K562	blood:
3	chr8:42695291..42700486-chr8:42749376..42753818,20	K562	blood:
4	chr8:42696480..42700026-chr8:42910062..42913362,8	K562	blood:
5	chr8:42695855..42700016-chr8:42746812..42754296,18	MCF-7	breast:
6	chr8:42696846..42699978-chr8:42747946..42753140,10	MCF-7	breast:
7	chr8:42698945..42701750-chr8:42716585..42718500,2	K562	blood:

No data

Variant related genes	Relation type
THAP1	TF binding region
ENSG00000120925	Chromatin interaction
ENSG00000168172	Chromatin interaction
ENSG00000266044	Chromatin interaction
ENSG00000168522	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

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]
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]
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]
rs73634682	1.00[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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42696600-42699200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:42696600-42699200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr8:42696800-42699200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:42696800-42699200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr8:42696800-42699200	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr8:42696800-42699200	Active TSS	Psoas Muscle	Psoas
7	chr8:42696800-42699200	Active TSS	HSMMtube	muscle
8	chr8:42696800-42699400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:42696800-42699400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr8:42697000-42699200	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr8:42697000-42699200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:42697000-42699200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:42697000-42699200	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr8:42697000-42699200	Active TSS	HepG2	liver
15	chr8:42697000-42699200	Active TSS	HMEC	breast
16	chr8:42697000-42699200	Active TSS	K562	blood
17	chr8:42697200-42699200	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr8:42697200-42699200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:42697200-42699200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:42697200-42699200	Active TSS	Muscle Satellite Cultured Cells	--
21	chr8:42697200-42699200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:42697200-42699200	Active TSS	Brain Cingulate Gyrus	brain
23	chr8:42697200-42699200	Active TSS	Right Atrium	heart
24	chr8:42697200-42699200	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr8:42697200-42699200	Active TSS	Thymus	Thymus
26	chr8:42697200-42699200	Active TSS	GM12878-XiMat	blood
27	chr8:42697200-42699200	Active TSS	Hela-S3	cervix
28	chr8:42697200-42699200	Active TSS	HSMM	muscle
29	chr8:42697200-42699200	Active TSS	NHEK	skin
30	chr8:42697200-42699200	Active TSS	NHLF	lung
31	chr8:42697200-42699400	Active TSS	Colonic Mucosa	Colon
32	chr8:42697200-42699400	Active TSS	A549	lung
33	chr8:42697400-42699400	Active TSS	H9 Cell Line	embryonic stem cell
34	chr8:42697400-42699400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:42697400-42699400	Active TSS	Fetal Brain Female	brain
36	chr8:42697400-42699600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:42697400-42699600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:42697400-42699600	Active TSS	Brain Angular Gyrus	brain
39	chr8:42697400-42699600	Active TSS	Placenta Amnion	Placenta Amnion
40	chr8:42697600-42699200	Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr8:42697600-42699200	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr8:42697600-42699200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:42697600-42699200	Active TSS	Brain Anterior Caudate	brain
44	chr8:42697600-42699200	Active TSS	Duodenum Mucosa	Duodenum
45	chr8:42697600-42699200	Active TSS	Fetal Kidney	kidney
46	chr8:42697600-42699200	Active TSS	Fetal Lung	lung
47	chr8:42697600-42699200	Active TSS	Stomach Smooth Muscle	stomach
48	chr8:42697600-42699400	Active TSS	Brain Hippocampus Middle	brain
49	chr8:42697600-42699400	Active TSS	Rectal Smooth Muscle	rectum
50	chr8:42697600-42699400	Active TSS	NH-A	brain

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