Variant report

Variant	rs73137683
Chromosome Location	chr5:81015086-81015087
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:81013446..81015867-chr5:81016678..81018920,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10057992	0.85[ASN][1000 genomes]
rs10078216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10213685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10473851	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10942282	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10942283	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28405913	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28539361	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59422848	0.85[ASN][1000 genomes]
rs73137649	0.84[AFR][1000 genomes]
rs73137678	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73137686	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9293279	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv830362	chr5:80990787-81184249	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80984200-81032000	Weak transcription	Esophagus	oesophagus
2	chr5:80997800-81021600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:81000000-81015400	Weak transcription	Pancreas	Pancrea
4	chr5:81000400-81017000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr5:81005200-81022000	Weak transcription	Brain Germinal Matrix	brain
6	chr5:81005400-81022000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr5:81006200-81017600	Weak transcription	Fetal Brain Female	brain
8	chr5:81008200-81016200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr5:81008800-81044800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:81010000-81022000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:81010800-81016000	Genic enhancers	Dnd41	blood
12	chr5:81011400-81015400	Weak transcription	Spleen	Spleen
13	chr5:81011600-81029800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:81013000-81015800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:81013000-81016000	Enhancers	Ovary	ovary
16	chr5:81013000-81018000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr5:81013000-81018600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:81013200-81015400	Weak transcription	Aorta	Aorta
19	chr5:81013200-81015600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr5:81013200-81017600	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr5:81013600-81015200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:81013600-81015800	Enhancers	Primary B cells from peripheral blood	blood
23	chr5:81013600-81016000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr5:81013600-81017000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:81013600-81018400	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr5:81013600-81019800	Enhancers	Colon Smooth Muscle	Colon
27	chr5:81013600-81021200	Enhancers	Primary T cells from cord blood	blood
28	chr5:81013800-81015600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:81014000-81015200	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr5:81014000-81015800	Enhancers	Fetal Lung	lung
31	chr5:81014000-81016000	Enhancers	Fetal Stomach	stomach
32	chr5:81014000-81016400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr5:81014000-81018200	Enhancers	Primary hematopoietic stem cells	blood
34	chr5:81014000-81021200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr5:81014000-81022400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr5:81014200-81015600	Enhancers	Small Intestine	intestine
37	chr5:81014200-81015800	Enhancers	Right Atrium	heart
38	chr5:81014200-81016200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:81014200-81017400	Weak transcription	NHDF-Ad	bronchial
40	chr5:81014200-81017800	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr5:81014200-81018800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr5:81014200-81019200	Enhancers	Rectal Smooth Muscle	rectum
43	chr5:81014400-81015200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr5:81014400-81015400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr5:81014400-81015400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr5:81014400-81015400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr5:81014400-81015400	Weak transcription	Brain Angular Gyrus	brain
48	chr5:81014400-81015400	Weak transcription	Right Ventricle	heart
49	chr5:81014400-81015600	Weak transcription	Adipose Nuclei	Adipose
50	chr5:81014400-81016200	Weak transcription	Brain Anterior Caudate	brain

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