Variant report

Variant	rs17233321
Chromosome Location	chr5:81017141-81017142
allele	A/G
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: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2972229	1.00[ASN][1000 genomes]
rs2972242	1.00[ASN][1000 genomes]
rs72773017	1.00[ASN][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:72 , 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	chr5:81005200-81022000	Weak transcription	Brain Germinal Matrix	brain
4	chr5:81005400-81022000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr5:81006200-81017600	Weak transcription	Fetal Brain Female	brain
6	chr5:81008800-81044800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:81010000-81022000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:81011600-81029800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:81013000-81018000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr5:81013000-81018600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:81013200-81017600	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr5:81013600-81018400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr5:81013600-81019800	Enhancers	Colon Smooth Muscle	Colon
14	chr5:81013600-81021200	Enhancers	Primary T cells from cord blood	blood
15	chr5:81014000-81018200	Enhancers	Primary hematopoietic stem cells	blood
16	chr5:81014000-81021200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr5:81014000-81022400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr5:81014200-81017400	Weak transcription	NHDF-Ad	bronchial
19	chr5:81014200-81017800	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr5:81014200-81018800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr5:81014200-81019200	Enhancers	Rectal Smooth Muscle	rectum
22	chr5:81014400-81017200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr5:81014400-81017600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:81014400-81017800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:81014400-81022800	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr5:81014600-81022800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr5:81014800-81017800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr5:81014800-81017800	Weak transcription	Fetal Heart	heart
29	chr5:81015000-81018400	Enhancers	Brain Substantia Nigra	brain
30	chr5:81015400-81017400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr5:81015400-81017600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr5:81015400-81018000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr5:81015400-81020600	Weak transcription	Primary B cells from cord blood	blood
34	chr5:81015600-81021400	Weak transcription	Small Intestine	intestine
35	chr5:81015800-81017600	Weak transcription	Right Atrium	heart
36	chr5:81015800-81019400	Weak transcription	Right Ventricle	heart
37	chr5:81015800-81020400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:81015800-81020800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr5:81015800-81021400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr5:81015800-81022000	Weak transcription	Primary B cells from peripheral blood	blood
41	chr5:81015800-81023000	Weak transcription	Psoas Muscle	Psoas
42	chr5:81015800-81034600	Weak transcription	Left Ventricle	heart
43	chr5:81016000-81017600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr5:81016000-81019600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr5:81016000-81020600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:81016000-81020600	Weak transcription	Fetal Thymus	thymus
47	chr5:81016000-81020600	Enhancers	Dnd41	blood
48	chr5:81016000-81031800	Weak transcription	Ovary	ovary
49	chr5:81016000-81044800	Weak transcription	Fetal Stomach	stomach
50	chr5:81016200-81017200	Weak transcription	Brain Angular Gyrus	brain

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