Variant report

Variant	rs73693437
Chromosome Location	chr8:66750920-66750921
allele	A/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	chr8:66750796-66751340	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:66750114..66752616-chr8:66932184..66934106,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272192	TF binding region
ENSG00000147570	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs56256477	1.00[AMR][1000 genomes]
rs56665861	1.00[AMR][1000 genomes]
rs57152556	1.00[AMR][1000 genomes]
rs57973039	1.00[AMR][1000 genomes]
rs60715207	1.00[AMR][1000 genomes]
rs73690896	1.00[AMR][1000 genomes]
rs73693412	1.00[AMR][1000 genomes]
rs73693414	1.00[AMR][1000 genomes]
rs73693415	1.00[AMR][1000 genomes]
rs73693417	1.00[AMR][1000 genomes]
rs73693421	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73693425	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73693431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73693434	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7813923	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1793412	chr8:66705321-66761366	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66725400-66751200	Weak transcription	Fetal Heart	heart
2	chr8:66731000-66752600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:66731600-66752600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:66731800-66752600	Weak transcription	Adipose Nuclei	Adipose
5	chr8:66732600-66751000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:66732600-66751000	Weak transcription	Fetal Lung	lung
7	chr8:66733000-66752000	Weak transcription	Fetal Intestine Small	intestine
8	chr8:66734800-66752600	Weak transcription	Left Ventricle	heart
9	chr8:66738600-66752600	Weak transcription	Pancreas	Pancrea
10	chr8:66740200-66752400	Weak transcription	Fetal Kidney	kidney
11	chr8:66742200-66752200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:66744400-66751800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:66744600-66751000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr8:66744800-66751000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr8:66745200-66751000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr8:66745200-66753000	Weak transcription	Gastric	stomach
17	chr8:66746200-66752400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr8:66746200-66752600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr8:66746600-66751200	Enhancers	Brain Cingulate Gyrus	brain
20	chr8:66747000-66751000	Enhancers	Brain Anterior Caudate	brain
21	chr8:66747000-66751200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr8:66747200-66752400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr8:66747600-66751200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr8:66748000-66752200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr8:66748000-66752400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr8:66748000-66752400	Weak transcription	Colon Smooth Muscle	Colon
27	chr8:66748000-66752800	Weak transcription	Psoas Muscle	Psoas
28	chr8:66748000-66752800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr8:66748000-66754600	Active TSS	Primary T cells fromperipheralblood	blood
30	chr8:66748200-66751600	Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr8:66748200-66755800	Active TSS	Thymus	Thymus
32	chr8:66748400-66751000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr8:66748600-66751200	Transcr. at gene 5' and 3'	Dnd41	blood
34	chr8:66748800-66751000	Enhancers	K562	blood
35	chr8:66748800-66752400	Weak transcription	Brain Substantia Nigra	brain
36	chr8:66749000-66751000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:66749000-66751800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
38	chr8:66749000-66752400	Enhancers	Brain Angular Gyrus	brain
39	chr8:66749000-66753000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:66749200-66752200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:66749200-66752600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:66749200-66752800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr8:66749200-66755200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr8:66749400-66751000	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr8:66749400-66751800	Enhancers	Fetal Brain Female	brain
46	chr8:66749400-66752000	Enhancers	Fetal Brain Male	brain
47	chr8:66749400-66752400	Active TSS	Duodenum Mucosa	Duodenum
48	chr8:66749600-66751000	Weak transcription	Small Intestine	intestine
49	chr8:66749600-66751000	Weak transcription	NHLF	lung
50	chr8:66749600-66755000	Active TSS	Primary T helper cells PMA-I stimulated	--

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