Variant report

Variant	rs1550802
Chromosome Location	chr5:81053445-81053446
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:81051607..81053682-chr5:81571123..81573948,2	K562	blood:
2	chr5:81044752..81060050-chr5:81140268..81152732,43	K562	blood:
3	chr5:81045980..81049009-chr5:81049247..81053935,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145687	Chromatin interaction
ENSG00000249483	Chromatin interaction
ENSG00000186468	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs368516	1.00[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs392675	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs398738	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs649872	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.85[MEX][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1028322	chr5:81020723-81419278	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv4900	chr5:81022018-81067365	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv598753	chr5:81031741-81491087	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv471018	chr5:81036805-81480371	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
7	nsv1033091	chr5:81039194-81159522	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv869102	chr5:81052386-81494502	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:81048000-81054000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:81048000-81065000	Weak transcription	Aorta	Aorta
3	chr5:81048400-81053800	Weak transcription	Dnd41	blood
4	chr5:81048400-81055400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:81048400-81056400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:81048400-81056600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr5:81048400-81060200	Weak transcription	Right Atrium	heart
8	chr5:81048400-81062400	Weak transcription	Left Ventricle	heart
9	chr5:81048600-81055400	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:81049400-81054200	Weak transcription	Fetal Thymus	thymus
11	chr5:81049400-81054400	Weak transcription	Thymus	Thymus
12	chr5:81050400-81053800	Enhancers	HMEC	breast
13	chr5:81050600-81054200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:81051400-81054200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:81051600-81053800	Enhancers	NHEK	skin
16	chr5:81051600-81054400	Enhancers	K562	blood
17	chr5:81051600-81055200	Weak transcription	Brain Substantia Nigra	brain
18	chr5:81051600-81057400	Weak transcription	Stomach Mucosa	stomach
19	chr5:81051800-81055600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:81051800-81055800	Weak transcription	Brain Anterior Caudate	brain
21	chr5:81051800-81056400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:81051800-81056400	Weak transcription	Fetal Intestine Small	intestine
23	chr5:81052000-81054400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr5:81052200-81054800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr5:81052200-81054800	Weak transcription	HUVEC	blood vessel
26	chr5:81052200-81055400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr5:81052200-81063600	Weak transcription	NH-A	brain
28	chr5:81052200-81064800	Weak transcription	NHDF-Ad	bronchial
29	chr5:81052200-81065400	Weak transcription	Placenta	Placenta
30	chr5:81052400-81055400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:81052400-81055800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr5:81052400-81057000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:81052400-81063600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr5:81052600-81056400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:81052800-81054000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:81052800-81055200	Weak transcription	Adipose Nuclei	Adipose
37	chr5:81052800-81072200	Weak transcription	Psoas Muscle	Psoas
38	chr5:81053000-81054000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr5:81053000-81055200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr5:81053000-81055400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr5:81053000-81055400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr5:81053000-81058000	Weak transcription	A549	lung
43	chr5:81053200-81055200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr5:81053200-81055200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr5:81053200-81055400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr5:81053400-81055400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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