Variant report

Variant	rs73635357
Chromosome Location	chr8:42782082-42782083
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:42779779..42782429-chr8:42786638..42788942,2	K562	blood:
2	chr8:42780929..42782599-chr8:42786860..42788942,2	K562	blood:
3	chr8:42750859..42753173-chr8:42780418..42782565,2	K562	blood:
4	chr8:42779435..42782090-chr8:42784603..42786118,2	K562	blood:

Variant related genes	Relation type
ENSG00000266044	Chromatin interaction
ENSG00000120925	Chromatin interaction
ENSG00000168172	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10453137	0.88[AFR][1000 genomes]
rs11987452	0.84[AFR][1000 genomes]
rs11988227	0.84[AFR][1000 genomes]
rs11989623	1.00[AMR][1000 genomes]
rs11990369	0.88[AFR][1000 genomes]
rs11991133	0.88[AFR][1000 genomes]
rs11992397	0.88[AFR][1000 genomes]
rs11992660	0.88[AFR][1000 genomes]
rs11992682	0.88[AFR][1000 genomes]
rs11992987	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11993667	0.88[AFR][1000 genomes]
rs11993799	1.00[AMR][1000 genomes]
rs11994115	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11994318	0.88[AFR][1000 genomes]
rs11995172	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11995473	0.88[AFR][1000 genomes]
rs11997992	0.81[AFR][1000 genomes]
rs11998092	1.00[AMR][1000 genomes]
rs2194902	0.81[AFR][1000 genomes]
rs28718980	1.00[AMR][1000 genomes]
rs28799623	0.88[AFR][1000 genomes]
rs28840077	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34489103	0.83[AFR][1000 genomes]
rs35327613	1.00[AMR][1000 genomes]
rs35506493	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57071761	1.00[AMR][1000 genomes]
rs58081556	0.88[AFR][1000 genomes]
rs59213790	0.84[AFR][1000 genomes]
rs59592639	1.00[AMR][1000 genomes]
rs60133450	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60782941	0.90[AFR][1000 genomes]
rs61093151	1.00[AMR][1000 genomes]
rs61224035	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73627229	0.88[AFR][1000 genomes]
rs73627242	0.88[AFR][1000 genomes]
rs73627249	0.84[AFR][1000 genomes]
rs73627250	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73627252	0.88[AFR][1000 genomes]
rs73627261	0.81[AFR][1000 genomes]
rs73627273	0.88[AFR][1000 genomes]
rs73627274	0.88[AFR][1000 genomes]
rs73627276	0.88[AFR][1000 genomes]
rs73627278	0.88[AFR][1000 genomes]
rs73627280	0.88[AFR][1000 genomes]
rs73627282	0.88[AFR][1000 genomes]
rs73629103	0.81[AFR][1000 genomes]
rs73629108	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73629198	1.00[AMR][1000 genomes]
rs73631561	1.00[AMR][1000 genomes]
rs73631573	1.00[AMR][1000 genomes]
rs73633750	1.00[AMR][1000 genomes]
rs73633762	1.00[AMR][1000 genomes]
rs73633763	1.00[AMR][1000 genomes]
rs73634623	1.00[AMR][1000 genomes]
rs73634627	1.00[AMR][1000 genomes]
rs73634652	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73634670	0.83[AFR][1000 genomes]
rs73634673	0.83[AFR][1000 genomes]
rs73634677	0.82[AFR][1000 genomes]
rs73634682	0.83[AFR][1000 genomes]
rs73634696	0.85[AFR][1000 genomes]
rs73635313	0.84[AFR][1000 genomes]
rs73635316	0.85[AFR][1000 genomes]
rs73635325	0.84[AFR][1000 genomes]
rs73635331	0.81[AFR][1000 genomes]
rs73635345	0.88[AFR][1000 genomes]
rs73635352	0.88[AFR][1000 genomes]
rs73635362	0.88[AFR][1000 genomes]
rs73635364	0.88[AFR][1000 genomes]
rs73635365	0.81[AFR][1000 genomes]
rs73635366	0.88[AFR][1000 genomes]
rs73635368	0.88[AFR][1000 genomes]
rs73635370	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers 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 miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	esv3391654	chr8:42772844-42799123	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
8	esv3374088	chr8:42772844-42802608	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42753600-42785800	Weak transcription	Esophagus	oesophagus
2	chr8:42754000-42814200	Weak transcription	Fetal Thymus	thymus
3	chr8:42754400-42806400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:42754800-42812600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:42755000-42787600	Weak transcription	Fetal Brain Male	brain
6	chr8:42755800-42785800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr8:42764800-42787600	Weak transcription	Thymus	Thymus
8	chr8:42766800-42806800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr8:42768200-42787600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:42769200-42785600	Weak transcription	Fetal Kidney	kidney
11	chr8:42769400-42785800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:42769400-42786000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr8:42769800-42786000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr8:42769800-42787200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:42771400-42788600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:42771800-42787200	Weak transcription	GM12878-XiMat	blood
17	chr8:42772000-42785200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr8:42772200-42785600	Weak transcription	HSMM	muscle
19	chr8:42772400-42800800	Weak transcription	Colonic Mucosa	Colon
20	chr8:42772600-42785600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:42772600-42785800	Weak transcription	Brain Angular Gyrus	brain
22	chr8:42772600-42786000	Weak transcription	Ovary	ovary
23	chr8:42772600-42789800	Weak transcription	Small Intestine	intestine
24	chr8:42772600-42815400	Weak transcription	Gastric	stomach
25	chr8:42772600-42815400	Weak transcription	Psoas Muscle	Psoas
26	chr8:42772800-42785800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:42773400-42785600	Weak transcription	Liver	Liver
28	chr8:42774200-42806400	Weak transcription	Lung	lung
29	chr8:42775000-42782800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:42775000-42785800	Weak transcription	Left Ventricle	heart
31	chr8:42775600-42787200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr8:42775600-42814400	Weak transcription	Right Ventricle	heart
33	chr8:42775800-42785400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:42775800-42785800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:42775800-42785800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr8:42775800-42786000	Weak transcription	NHEK	skin
37	chr8:42776000-42785600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr8:42776000-42785600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr8:42776000-42785600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr8:42776000-42786000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr8:42776000-42787000	Weak transcription	HMEC	breast
42	chr8:42776000-42787200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr8:42776000-42796800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr8:42776000-42797800	Weak transcription	K562	blood
45	chr8:42776000-42802600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr8:42776000-42814400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr8:42776000-42874800	Weak transcription	Fetal Heart	heart
48	chr8:42776200-42784400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:42776200-42785000	Weak transcription	NH-A	brain
50	chr8:42776200-42786200	Weak transcription	Brain Anterior Caudate	brain

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