Variant report

Variant	rs292180
Chromosome Location	chr5:36950259-36950260
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	chr5:36743855..36746677-chr5:36948839..36952257,4	MCF-7	breast:
2	chr5:36874711..36878038-chr5:36947695..36950933,3	K562	blood:

Variant related genes	Relation type
ENSG00000164190	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs12656269	0.81[ASN][1000 genomes]
rs12659960	0.81[ASN][1000 genomes]
rs12659981	0.81[ASN][1000 genomes]
rs12659983	0.81[ASN][1000 genomes]
rs13183090	0.94[ASN][1000 genomes]
rs151945	0.90[ASN][1000 genomes]
rs151946	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs151947	0.90[ASN][1000 genomes]
rs158410	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs158411	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs158412	0.90[ASN][1000 genomes]
rs158792	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs158793	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs158794	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs158797	0.94[ASN][1000 genomes]
rs158798	0.94[ASN][1000 genomes]
rs158799	0.94[ASN][1000 genomes]
rs158802	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs159140	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs159141	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs167146	0.94[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs16903459	0.93[ASN][1000 genomes]
rs16903490	0.82[ASN][1000 genomes]
rs181755	0.90[ASN][1000 genomes]
rs2123010	0.81[ASN][1000 genomes]
rs2133786	0.84[ASN][1000 genomes]
rs245587	0.90[ASN][1000 genomes]
rs245588	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs292160	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs292179	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs292181	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs292186	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs292196	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs293746	0.94[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs293748	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs293774	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs294695	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs34066351	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34479946	0.85[ASN][1000 genomes]
rs34701667	0.87[ASN][1000 genomes]
rs34920909	0.84[ASN][1000 genomes]
rs35011787	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35135658	0.81[ASN][1000 genomes]
rs35263618	0.84[ASN][1000 genomes]
rs35701604	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs35899185	0.84[ASN][1000 genomes]
rs468022	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs56261529	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56974222	0.82[ASN][1000 genomes]
rs58952013	0.81[ASN][1000 genomes]
rs59889951	0.84[ASN][1000 genomes]
rs61748200	0.86[ASN][1000 genomes]
rs6861906	0.91[EUR][1000 genomes]
rs9632396	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv1033562	chr5:36927652-36994811	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1023362	chr5:36927652-37010749	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
10	nsv1017947	chr5:36927652-37017180	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
11	nsv1029936	chr5:36927652-37025871	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
12	nsv1029319	chr5:36928654-37017180	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
13	nsv1030883	chr5:36932448-37039857	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
14	esv1803659	chr5:36935129-37039857	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
15	nsv1034694	chr5:36946454-36991605	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv1015172	chr5:36946454-36993280	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv1033778	chr5:36946454-36994811	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv1033928	chr5:36947293-37039857	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
19	nsv917880	chr5:36948778-37115342	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36919800-36953000	Weak transcription	Primary B cells from peripheral blood	blood
2	chr5:36919800-36961600	Weak transcription	K562	blood
3	chr5:36920400-36951400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:36924800-36955200	Weak transcription	Dnd41	blood
5	chr5:36927600-36961600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:36933200-36962000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:36936000-36951600	Weak transcription	Primary B cells from cord blood	blood
8	chr5:36936800-36951000	Weak transcription	Right Ventricle	heart
9	chr5:36939200-36950800	Weak transcription	Ovary	ovary
10	chr5:36939400-36950800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:36939600-36950800	Weak transcription	Adipose Nuclei	Adipose
12	chr5:36939600-36954200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:36939600-36955400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr5:36940200-36950800	Weak transcription	Hela-S3	cervix
15	chr5:36940200-36955600	Weak transcription	Fetal Thymus	thymus
16	chr5:36940400-36950600	Weak transcription	HepG2	liver
17	chr5:36940600-36956000	Weak transcription	Fetal Intestine Small	intestine
18	chr5:36940600-36985400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:36940800-36950400	Weak transcription	Fetal Intestine Large	intestine
20	chr5:36940800-36956600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr5:36941200-36950600	Weak transcription	GM12878-XiMat	blood
22	chr5:36944200-36950800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:36944200-36957200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:36944400-36950400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr5:36944400-36955200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr5:36944600-36950400	Weak transcription	Brain Hippocampus Middle	brain
27	chr5:36944600-36950600	Weak transcription	Brain Substantia Nigra	brain
28	chr5:36944600-36950800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr5:36944800-36955400	Weak transcription	Placenta	Placenta
30	chr5:36945000-36950600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:36945200-36950400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr5:36945400-36951600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr5:36945600-36952000	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr5:36945800-36950800	Enhancers	NHLF	lung
35	chr5:36945800-36951000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr5:36945800-36953600	Weak transcription	Fetal Heart	heart
37	chr5:36946000-36950400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:36946000-36957000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr5:36946200-36950600	Enhancers	Osteobl	bone
40	chr5:36946200-36952000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr5:36946200-36965000	Weak transcription	Psoas Muscle	Psoas
42	chr5:36946400-36955400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr5:36946400-36978000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr5:36946600-36950400	Weak transcription	Aorta	Aorta
45	chr5:36946600-36950600	Weak transcription	Brain Anterior Caudate	brain
46	chr5:36946600-36955200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:36946600-36957000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:36946600-36970000	Weak transcription	Left Ventricle	heart
49	chr5:36946600-36976000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr5:36946800-36951800	Enhancers	Pancreatic Islets	Pancreatic Islet

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