Variant report

Variant	rs411840
Chromosome Location	chr5:81014958-81014959
allele	C/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: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12186581	0.83[EUR][1000 genomes]
rs13156146	0.81[CEU][hapmap]
rs13160079	0.82[EUR][1000 genomes]
rs34007998	0.83[EUR][1000 genomes]
rs371705	0.81[CEU][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs396231	0.80[MEX][hapmap]
rs398666	0.85[CEU][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs402061	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs402433	0.80[EUR][1000 genomes]
rs406283	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs422523	0.81[CEU][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs424762	0.81[CEU][hapmap];0.85[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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80984200-81032000	Weak transcription	Esophagus	oesophagus
2	chr5:80984400-81015000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:80997800-81021600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:81000000-81015400	Weak transcription	Pancreas	Pancrea
5	chr5:81000400-81017000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr5:81005200-81022000	Weak transcription	Brain Germinal Matrix	brain
7	chr5:81005400-81015000	Weak transcription	Brain Substantia Nigra	brain
8	chr5:81005400-81022000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:81006200-81017600	Weak transcription	Fetal Brain Female	brain
10	chr5:81008200-81016200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr5:81008800-81044800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:81010000-81022000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:81010800-81016000	Genic enhancers	Dnd41	blood
14	chr5:81011400-81015400	Weak transcription	Spleen	Spleen
15	chr5:81011600-81029800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:81012000-81015000	Weak transcription	Lung	lung
17	chr5:81013000-81015800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:81013000-81016000	Enhancers	Ovary	ovary
19	chr5:81013000-81018000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr5:81013000-81018600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr5:81013200-81015400	Weak transcription	Aorta	Aorta
22	chr5:81013200-81015600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr5:81013200-81017600	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr5:81013400-81015000	Weak transcription	Thymus	Thymus
25	chr5:81013600-81015000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr5:81013600-81015200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:81013600-81015800	Enhancers	Primary B cells from peripheral blood	blood
28	chr5:81013600-81016000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr5:81013600-81017000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:81013600-81018400	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr5:81013600-81019800	Enhancers	Colon Smooth Muscle	Colon
32	chr5:81013600-81021200	Enhancers	Primary T cells from cord blood	blood
33	chr5:81013800-81015000	Weak transcription	Fetal Thymus	thymus
34	chr5:81013800-81015600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:81014000-81015200	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr5:81014000-81015800	Enhancers	Fetal Lung	lung
37	chr5:81014000-81016000	Enhancers	Fetal Stomach	stomach
38	chr5:81014000-81016400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr5:81014000-81018200	Enhancers	Primary hematopoietic stem cells	blood
40	chr5:81014000-81021200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr5:81014000-81022400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr5:81014200-81015600	Enhancers	Small Intestine	intestine
43	chr5:81014200-81015800	Enhancers	Right Atrium	heart
44	chr5:81014200-81016200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:81014200-81017400	Weak transcription	NHDF-Ad	bronchial
46	chr5:81014200-81017800	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr5:81014200-81018800	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr5:81014200-81019200	Enhancers	Rectal Smooth Muscle	rectum
49	chr5:81014400-81015200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr5:81014400-81015400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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