Variant report

Variant	rs73635331
Chromosome Location	chr8:42754708-42754709
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	GATA3	chr8:42754602-42754755	SH-SY5Y	brain:	n/a	chr8:42754709-42754722

No.	Distal block	Cell Line	Cell type
1	chr8:42752902..42755460-chr8:42769700..42772632,2	K562	blood:
2	chr8:42753832..42756744-chr8:42758263..42760158,2	MCF-7	breast:
3	chr8:42754284..42756686-chr8:42946853..42949071,2	K562	blood:

Variant related genes	Relation type
MIR4469	TF binding region
RNF170	TF binding region
ENSG00000185900	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10453137	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11984488	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11984550	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11984732	0.90[EUR][1000 genomes]
rs11986255	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11987452	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11988102	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11988197	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11988227	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11988823	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11990369	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11991133	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11991458	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11992397	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11992567	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11992660	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11992682	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11993667	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11994318	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11995473	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11995810	0.85[EUR][1000 genomes]
rs11996604	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11997992	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17622134	0.90[EUR][1000 genomes]
rs17694846	0.86[EUR][1000 genomes]
rs2194902	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28799623	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34489103	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35506493	0.81[AFR][1000 genomes]
rs57363090	0.90[EUR][1000 genomes]
rs57797146	0.86[EUR][1000 genomes]
rs57986156	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58081556	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58384533	0.86[EUR][1000 genomes]
rs58641534	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59164172	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59177170	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59213790	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59531993	0.90[EUR][1000 genomes]
rs59805921	0.86[EUR][1000 genomes]
rs60443202	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60555023	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60782941	0.87[AFR][1000 genomes]
rs61733908	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6651368	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6651369	0.81[EUR][1000 genomes]
rs7004940	0.90[EUR][1000 genomes]
rs7008140	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7010367	0.81[EUR][1000 genomes]
rs73627229	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627242	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627249	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627250	0.83[AFR][1000 genomes]
rs73627252	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627261	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627273	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627274	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627276	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627278	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627280	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627282	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627288	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627294	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73629103	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73629110	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73629152	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73629156	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73629161	0.81[EUR][1000 genomes]
rs73629163	0.81[EUR][1000 genomes]
rs73629177	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73629179	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73629182	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73629190	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73629192	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73629194	0.85[AMR][1000 genomes]
rs73634666	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73634670	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73634673	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73634677	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73634682	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73634696	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635313	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635316	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73635325	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73635345	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73635352	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73635357	0.81[AFR][1000 genomes]
rs73635362	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73635364	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73635365	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73635366	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73635368	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73635370	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7820326	0.90[EUR][1000 genomes]
rs7838845	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	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

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42753200-42754800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:42753400-42755000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:42753600-42754800	Weak transcription	Gastric	stomach
4	chr8:42753600-42755200	Enhancers	Brain Substantia Nigra	brain
5	chr8:42753600-42756000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:42753600-42756000	Weak transcription	Left Ventricle	heart
7	chr8:42753600-42757200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:42753600-42757400	Weak transcription	Pancreas	Pancrea
9	chr8:42753600-42761800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:42753600-42764400	Weak transcription	Placenta	Placenta
11	chr8:42753600-42764600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:42753600-42764600	Weak transcription	Lung	lung
13	chr8:42753600-42771000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:42753600-42771800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:42753600-42785800	Weak transcription	Esophagus	oesophagus
16	chr8:42753800-42754800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:42753800-42755200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:42753800-42755400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:42753800-42755400	Enhancers	Fetal Heart	heart
20	chr8:42753800-42755600	Enhancers	Primary T cells from cord blood	blood
21	chr8:42753800-42755800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr8:42753800-42755800	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr8:42753800-42755800	Enhancers	Liver	Liver
24	chr8:42753800-42755800	Weak transcription	Right Ventricle	heart
25	chr8:42753800-42756200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr8:42754000-42754800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:42754000-42754800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr8:42754000-42754800	Enhancers	Duodenum Mucosa	Duodenum
29	chr8:42754000-42755000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr8:42754000-42755000	Enhancers	Brain Hippocampus Middle	brain
31	chr8:42754000-42755000	Enhancers	Fetal Brain Male	brain
32	chr8:42754000-42755000	Enhancers	NHEK	skin
33	chr8:42754000-42755200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:42754000-42755400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:42754000-42755400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr8:42754000-42755600	Enhancers	Brain Cingulate Gyrus	brain
37	chr8:42754000-42756000	Weak transcription	Right Atrium	heart
38	chr8:42754000-42756000	Weak transcription	Spleen	Spleen
39	chr8:42754000-42756400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr8:42754000-42756600	Enhancers	Brain Anterior Caudate	brain
41	chr8:42754000-42757600	Weak transcription	Fetal Intestine Small	intestine
42	chr8:42754000-42757600	Weak transcription	Stomach Mucosa	stomach
43	chr8:42754000-42757800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr8:42754000-42761400	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr8:42754000-42763400	Weak transcription	HSMMtube	muscle
46	chr8:42754000-42764200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr8:42754000-42764600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr8:42754000-42768400	Weak transcription	Fetal Kidney	kidney
49	chr8:42754000-42769600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr8:42754000-42771000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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