Variant report

Variant	rs9292872
Chromosome Location	chr5:43304835-43304836
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43294706..43296263-chr5:43304707..43306404,2	K562	blood:
2	chr5:43303994..43305958-chr5:43311700..43313713,2	MCF-7	breast:
3	chr5:43296533..43300517-chr5:43302565..43304936,4	K562	blood:
4	chr5:43119332..43123146-chr5:43304067..43307597,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112972	Chromatin interaction
ENSG00000172262	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10037409	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10037706	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs10038859	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10040897	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10043148	1.00[CEU][hapmap];0.83[YRI][hapmap];0.86[EUR][1000 genomes]
rs10052384	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10054415	1.00[CEU][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10056437	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs10062031	0.86[EUR][1000 genomes]
rs10062121	0.86[EUR][1000 genomes]
rs10062598	1.00[CEU][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10064967	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10067763	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10069507	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs10077324	1.00[EUR][1000 genomes]
rs10079530	1.00[EUR][1000 genomes]
rs10473306	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10473308	1.00[CEU][hapmap];0.84[YRI][hapmap];0.86[EUR][1000 genomes]
rs11955467	1.00[EUR][1000 genomes]
rs1478436	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16874093	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16874094	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs28450849	0.86[EUR][1000 genomes]
rs28608156	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28688522	0.83[AFR][1000 genomes]
rs28856961	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4326149	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55645370	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60520238	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6865440	1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6884349	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6887169	1.00[MEX][hapmap]
rs6892413	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6893898	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6894240	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs6895237	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap]
rs7356654	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73751075	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73751078	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73751082	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73751083	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7710717	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7715267	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7729140	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7729145	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7733732	1.00[CEU][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9292869	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9292870	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.88[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9292875	1.00[CEU][hapmap];0.84[YRI][hapmap];0.86[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	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
2	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
3	nsv508352	chr5:43237830-43391062	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43284200-43309400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:43287000-43305000	Strong transcription	HUVEC	blood vessel
3	chr5:43288200-43312400	Weak transcription	Spleen	Spleen
4	chr5:43288600-43310000	Weak transcription	Aorta	Aorta
5	chr5:43294200-43312400	Weak transcription	Thymus	Thymus
6	chr5:43294600-43309400	Weak transcription	Lung	lung
7	chr5:43295600-43311800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:43297400-43312200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:43297400-43312400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr5:43297600-43311800	Weak transcription	Hela-S3	cervix
11	chr5:43298600-43310200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr5:43298800-43306200	Weak transcription	Brain Anterior Caudate	brain
13	chr5:43298800-43306200	Weak transcription	Fetal Kidney	kidney
14	chr5:43298800-43310400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr5:43298800-43311600	Weak transcription	Colon Smooth Muscle	Colon
16	chr5:43298800-43312400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:43299000-43306400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr5:43299000-43307800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr5:43299000-43309400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:43299000-43309400	Weak transcription	Gastric	stomach
21	chr5:43299000-43309800	Weak transcription	Colonic Mucosa	Colon
22	chr5:43299000-43312000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr5:43299000-43312200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:43299000-43312400	Weak transcription	Right Ventricle	heart
25	chr5:43299200-43309800	Weak transcription	Fetal Lung	lung
26	chr5:43299200-43310200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr5:43299400-43311800	Weak transcription	HSMM	muscle
28	chr5:43299400-43312600	Weak transcription	Placenta	Placenta
29	chr5:43300200-43311800	Weak transcription	Fetal Stomach	stomach
30	chr5:43300400-43312200	Weak transcription	Esophagus	oesophagus
31	chr5:43300400-43312200	Weak transcription	Fetal Muscle Leg	muscle
32	chr5:43300400-43312200	Weak transcription	Fetal Thymus	thymus
33	chr5:43300400-43312400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr5:43300400-43312400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr5:43300600-43305000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:43300600-43309800	Weak transcription	HSMMtube	muscle
37	chr5:43300800-43309200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr5:43300800-43309600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr5:43300800-43312000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr5:43301000-43305000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr5:43301000-43305200	Weak transcription	Fetal Intestine Small	intestine
42	chr5:43301000-43309400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:43301000-43312000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr5:43301000-43312200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr5:43302000-43306200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:43302000-43307800	Genic enhancers	HepG2	liver
47	chr5:43302000-43311600	Weak transcription	NH-A	brain
48	chr5:43302200-43305400	Genic enhancers	K562	blood
49	chr5:43302200-43309800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr5:43302400-43308200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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