Variant report

Variant	rs73635316
Chromosome Location	chr8:42747816-42747817
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:42747701..42749680-chr8:42768720..42771616,2	K562	blood:
2	chr8:42747025..42751990-chr8:42908756..42912609,5	MCF-7	breast:
3	chr8:42697934..42699653-chr8:42746931..42748803,2	K562	blood:
4	chr8:42695855..42700016-chr8:42746812..42754296,18	MCF-7	breast:
5	chr8:42709820..42712346-chr8:42747163..42749536,2	MCF-7	breast:
6	chr8:42737828..42740554-chr8:42744840..42748882,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131931	Chromatin interaction
ENSG00000168522	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10453137	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11984488	1.00[AMR][1000 genomes]
rs11984550	1.00[AMR][1000 genomes]
rs11984732	0.95[EUR][1000 genomes]
rs11986255	1.00[AMR][1000 genomes]
rs11987452	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11988102	1.00[AMR][1000 genomes]
rs11988197	1.00[AMR][1000 genomes]
rs11988227	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11988823	1.00[AMR][1000 genomes]
rs11990369	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11991133	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11991458	1.00[AMR][1000 genomes]
rs11992397	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11992567	0.85[AMR][1000 genomes]
rs11992660	0.92[AFR][1000 genomes]
rs11992682	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11992987	0.83[AFR][1000 genomes]
rs11993667	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11994115	0.83[AFR][1000 genomes]
rs11994318	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11995172	0.83[AFR][1000 genomes]
rs11995473	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11996604	1.00[AMR][1000 genomes]
rs11997992	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17622134	0.95[EUR][1000 genomes]
rs17694846	0.90[EUR][1000 genomes]
rs2194902	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28799623	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28840077	0.83[AFR][1000 genomes]
rs34489103	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35506493	0.85[AFR][1000 genomes]
rs57986156	1.00[AMR][1000 genomes]
rs58081556	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58384533	0.90[EUR][1000 genomes]
rs58641534	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59164172	0.85[AMR][1000 genomes]
rs59177170	1.00[AMR][1000 genomes]
rs59213790	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59531993	0.95[EUR][1000 genomes]
rs59805921	0.90[EUR][1000 genomes]
rs60133450	0.83[AFR][1000 genomes]
rs60443202	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60555023	0.85[AMR][1000 genomes]
rs60782941	0.90[AFR][1000 genomes]
rs61224035	0.81[AFR][1000 genomes]
rs61733908	1.00[AMR][1000 genomes]
rs6651368	0.85[AMR][1000 genomes]
rs7008140	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73627229	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73627242	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73627249	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73627250	0.87[AFR][1000 genomes]
rs73627252	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73627261	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73627273	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73627274	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73627276	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73627278	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73627280	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73627282	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73627288	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73627294	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73629103	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73629110	1.00[AMR][1000 genomes]
rs73629152	0.85[AMR][1000 genomes]
rs73629156	0.85[AMR][1000 genomes]
rs73629177	1.00[AMR][1000 genomes]
rs73629179	1.00[AMR][1000 genomes]
rs73629182	0.85[AMR][1000 genomes]
rs73629190	1.00[AMR][1000 genomes]
rs73629192	1.00[AMR][1000 genomes]
rs73629194	0.85[AMR][1000 genomes]
rs73634652	0.81[AFR][1000 genomes]
rs73634659	0.82[EUR][1000 genomes]
rs73634666	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73634670	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73634673	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73634677	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73634682	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73634696	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73635313	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73635325	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73635331	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73635345	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73635352	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73635357	0.85[AFR][1000 genomes]
rs73635362	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73635364	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73635365	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73635366	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73635368	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73635370	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7820326	0.95[EUR][1000 genomes]
rs7838845	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	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
5	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

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42699400-42750600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:42699600-42748600	Weak transcription	HMEC	breast
3	chr8:42708400-42749000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:42711600-42748600	Weak transcription	Fetal Thymus	thymus
5	chr8:42714600-42748400	Weak transcription	Fetal Brain Male	brain
6	chr8:42717000-42748800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr8:42719800-42750600	Weak transcription	Esophagus	oesophagus
8	chr8:42720200-42748800	Weak transcription	Colonic Mucosa	Colon
9	chr8:42725400-42748800	Weak transcription	Right Ventricle	heart
10	chr8:42726000-42748400	Weak transcription	Fetal Kidney	kidney
11	chr8:42734000-42748800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr8:42736800-42748400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:42736800-42748800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:42737200-42748600	Weak transcription	Thymus	Thymus
15	chr8:42738200-42748600	Weak transcription	Lung	lung
16	chr8:42738200-42750400	Weak transcription	Gastric	stomach
17	chr8:42738400-42748600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:42740800-42748600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:42741000-42748400	Weak transcription	Primary T cells from cord blood	blood
20	chr8:42741600-42748400	Weak transcription	NHEK	skin
21	chr8:42741600-42749000	Weak transcription	Brain Germinal Matrix	brain
22	chr8:42741800-42748600	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr8:42742000-42748200	Weak transcription	Fetal Lung	lung
24	chr8:42742000-42748400	Weak transcription	Brain Anterior Caudate	brain
25	chr8:42742200-42748400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr8:42742200-42748400	Weak transcription	Ovary	ovary
27	chr8:42742200-42748400	Weak transcription	Dnd41	blood
28	chr8:42742200-42749200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:42742400-42748400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:42742400-42748400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:42742400-42748400	Weak transcription	Fetal Intestine Small	intestine
32	chr8:42742400-42748600	Weak transcription	Aorta	Aorta
33	chr8:42742400-42748600	Weak transcription	Fetal Muscle Leg	muscle
34	chr8:42742400-42748600	Weak transcription	Fetal Stomach	stomach
35	chr8:42742400-42749400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:42742400-42749400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr8:42742800-42748400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:42742800-42748600	Weak transcription	Placenta	Placenta
39	chr8:42742800-42749200	Weak transcription	Fetal Brain Female	brain
40	chr8:42744200-42748400	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr8:42744200-42748800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr8:42745000-42749200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr8:42745200-42748400	Weak transcription	K562	blood
44	chr8:42745200-42748600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr8:42745200-42749000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:42745200-42749200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr8:42745200-42750400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr8:42745600-42748800	Enhancers	Adipose Nuclei	Adipose
49	chr8:42745800-42748400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:42745800-42748400	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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