Variant report

Variant	rs2731816
Chromosome Location	chr5:94811454-94811455
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	chr5:94810168..94812031-chr5:94812171..94814242,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10040106	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13162779	0.83[YRI][hapmap]
rs2059786	0.87[LWK][hapmap];1.00[YRI][hapmap]
rs2545842	0.87[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2545843	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2560275	0.92[YRI][hapmap]
rs2560277	0.86[LWK][hapmap];0.92[YRI][hapmap]
rs2731815	0.85[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.94[ASN][1000 genomes]
rs2731828	0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882388	chr5:94764006-94925849	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv598954	chr5:94783175-94859599	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94788800-94822000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:94792600-94817800	Weak transcription	Brain Substantia Nigra	brain
3	chr5:94792600-94821800	Weak transcription	Right Ventricle	heart
4	chr5:94794800-94817600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:94795200-94826600	Weak transcription	NHEK	skin
6	chr5:94795400-94814000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:94797000-94817000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:94797000-94819200	Weak transcription	HepG2	liver
9	chr5:94799200-94812200	Weak transcription	Fetal Kidney	kidney
10	chr5:94799200-94821600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:94799200-94834800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:94802000-94821600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:94802200-94813600	Weak transcription	HMEC	breast
14	chr5:94802200-94816200	Weak transcription	Fetal Brain Male	brain
15	chr5:94804200-94817800	Weak transcription	Fetal Heart	heart
16	chr5:94804600-94816600	Weak transcription	Brain Germinal Matrix	brain
17	chr5:94804600-94817000	Weak transcription	GM12878-XiMat	blood
18	chr5:94804600-94821600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:94804600-94823000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:94804800-94816400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr5:94804800-94816600	Weak transcription	K562	blood
22	chr5:94805400-94812400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:94806200-94811800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr5:94807400-94812400	Strong transcription	Primary T cells from cord blood	blood
25	chr5:94807800-94817000	Strong transcription	Primary B cells from cord blood	blood
26	chr5:94808000-94816600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr5:94808000-94821600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr5:94808200-94813600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr5:94808200-94821800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr5:94808200-94822800	Weak transcription	Psoas Muscle	Psoas
31	chr5:94808600-94812800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:94809000-94823400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:94809800-94823000	Strong transcription	Primary B cells from peripheral blood	blood
34	chr5:94810200-94811800	Strong transcription	Liver	Liver
35	chr5:94810200-94812000	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr5:94810200-94812000	Strong transcription	Aorta	Aorta
37	chr5:94810200-94812000	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr5:94810200-94813200	Strong transcription	HSMM	muscle
39	chr5:94810200-94814400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:94810200-94814400	Strong transcription	Adipose Nuclei	Adipose
41	chr5:94810200-94815400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:94810200-94823000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:94810200-94823000	Strong transcription	Dnd41	blood
44	chr5:94810200-94823000	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr5:94810200-94823200	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr5:94810200-94827400	Strong transcription	Fetal Thymus	thymus
47	chr5:94810400-94811800	Strong transcription	Fetal Muscle Trunk	muscle
48	chr5:94810600-94812000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr5:94810600-94813000	Strong transcription	Fetal Muscle Leg	muscle
50	chr5:94810600-94813200	Strong transcription	Primary hematopoietic stem cells	blood

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