Variant report

Variant	rs34044243
Chromosome Location	chr5:81018408-81018409
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:81017452..81019271-chr5:81022244..81024065,2	K562	blood:
2	chr5:81013446..81015867-chr5:81016678..81018920,2	K562	blood:
3	chr5:81017452..81019959-chr5:81020706..81023744,3	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12521077	0.82[CHD][hapmap]
rs12522859	0.96[ASN][1000 genomes]
rs13178641	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34670701	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35170856	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35555619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4703840	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];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:63 , 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	chr5:81008800-81044800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:81010000-81022000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:81011600-81029800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:81013000-81018600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:81013600-81019800	Enhancers	Colon Smooth Muscle	Colon
10	chr5:81013600-81021200	Enhancers	Primary T cells from cord blood	blood
11	chr5:81014000-81021200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr5:81014000-81022400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr5:81014200-81018800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr5:81014200-81019200	Enhancers	Rectal Smooth Muscle	rectum
15	chr5:81014400-81022800	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr5:81014600-81022800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:81015400-81020600	Weak transcription	Primary B cells from cord blood	blood
18	chr5:81015600-81021400	Weak transcription	Small Intestine	intestine
19	chr5:81015800-81019400	Weak transcription	Right Ventricle	heart
20	chr5:81015800-81020400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:81015800-81020800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr5:81015800-81021400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:81015800-81022000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr5:81015800-81023000	Weak transcription	Psoas Muscle	Psoas
25	chr5:81015800-81034600	Weak transcription	Left Ventricle	heart
26	chr5:81016000-81019600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr5:81016000-81020600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:81016000-81020600	Weak transcription	Fetal Thymus	thymus
29	chr5:81016000-81020600	Enhancers	Dnd41	blood
30	chr5:81016000-81031800	Weak transcription	Ovary	ovary
31	chr5:81016000-81044800	Weak transcription	Fetal Stomach	stomach
32	chr5:81016200-81018600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:81016200-81018600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:81016200-81022000	Weak transcription	Adipose Nuclei	Adipose
35	chr5:81016200-81022000	Weak transcription	Fetal Brain Male	brain
36	chr5:81016200-81022200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr5:81016800-81018600	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr5:81016800-81018600	Enhancers	Thymus	Thymus
39	chr5:81016800-81020000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr5:81017000-81022000	Weak transcription	Brain Anterior Caudate	brain
41	chr5:81017200-81020200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr5:81017400-81019800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr5:81017400-81020200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr5:81017600-81018600	Enhancers	Fetal Brain Female	brain
45	chr5:81017600-81019200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr5:81017600-81019800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr5:81017800-81018600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:81017800-81018600	Enhancers	Fetal Heart	heart
49	chr5:81017800-81018800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr5:81017800-81022000	Weak transcription	Muscle Satellite Cultured Cells	--

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