Variant report

Variant	rs293774
Chromosome Location	chr5:36943268-36943269
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:36937606..36940951-chr5:36941936..36944746,3	K562	blood:
2	chr5:36935171..36938055-chr5:36942349..36945199,2	MCF-7	breast:
3	chr5:36932364..36935161-chr5:36941200..36944542,3	K562	blood:
4	chr5:36932364..36935161-chr5:36941200..36943809,2	K562	blood:
5	chr5:36875559..36878395-chr5:36942609..36944650,2	MCF-7	breast:
6	chr5:36876484..36879168-chr5:36940218..36943816,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164190	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

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]
rs13177875	0.87[EUR][1000 genomes]
rs13183090	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs151945	0.90[ASN][1000 genomes]
rs151946	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs151947	0.90[ASN][1000 genomes]
rs158410	0.94[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs158411	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs158412	0.90[ASN][1000 genomes]
rs158792	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs158793	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs158794	0.93[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs159140	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159141	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs167146	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16903459	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16903490	0.82[ASN][1000 genomes]
rs181755	0.90[ASN][1000 genomes]
rs2123010	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2133786	0.84[ASN][1000 genomes]
rs245587	0.90[ASN][1000 genomes]
rs245588	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs292160	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs292179	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs292180	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]
rs292181	0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs292186	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs292196	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs293746	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs293748	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.80[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs294695	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs34066351	0.85[ASN][1000 genomes]
rs34479946	0.85[ASN][1000 genomes]
rs34525350	0.85[EUR][1000 genomes]
rs34701667	0.87[ASN][1000 genomes]
rs34920909	0.84[ASN][1000 genomes]
rs35011787	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35135658	0.81[ASN][1000 genomes]
rs35263618	0.84[ASN][1000 genomes]
rs35701604	0.96[ASN][1000 genomes]
rs35899185	0.84[ASN][1000 genomes]
rs468022	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56261529	0.96[ASN][1000 genomes]
rs56974222	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs58952013	0.81[ASN][1000 genomes]
rs59889951	0.84[ASN][1000 genomes]
rs61748200	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9632396	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 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

No data

Chromatin state (count:62 , 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	chr5:36923600-36943600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:36924600-36943600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:36924800-36955200	Weak transcription	Dnd41	blood
7	chr5:36927600-36961600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:36929600-36947400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:36930000-36945000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:36933200-36944000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:36933200-36962000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:36933400-36949600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:36935200-36947200	Weak transcription	Primary T cells from cord blood	blood
14	chr5:36936000-36951600	Weak transcription	Primary B cells from cord blood	blood
15	chr5:36936200-36944000	Weak transcription	Colon Smooth Muscle	Colon
16	chr5:36936800-36951000	Weak transcription	Right Ventricle	heart
17	chr5:36938000-36945400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:36938000-36949200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr5:36938200-36945800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:36938200-36948200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr5:36938400-36943400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:36938400-36944000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:36938400-36945000	Weak transcription	Fetal Heart	heart
24	chr5:36938400-36946200	Weak transcription	Left Ventricle	heart
25	chr5:36939000-36945600	Weak transcription	Liver	Liver
26	chr5:36939200-36950800	Weak transcription	Ovary	ovary
27	chr5:36939400-36950800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr5:36939600-36950800	Weak transcription	Adipose Nuclei	Adipose
29	chr5:36939600-36954200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr5:36939600-36955400	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr5:36939800-36944400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr5:36940200-36945000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr5:36940200-36946200	Weak transcription	Osteobl	bone
34	chr5:36940200-36950800	Weak transcription	Hela-S3	cervix
35	chr5:36940200-36955600	Weak transcription	Fetal Thymus	thymus
36	chr5:36940400-36950600	Weak transcription	HepG2	liver
37	chr5:36940600-36943600	Weak transcription	Brain Substantia Nigra	brain
38	chr5:36940600-36943800	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr5:36940600-36943800	Weak transcription	Brain Anterior Caudate	brain
40	chr5:36940600-36944000	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr5:36940600-36948400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr5:36940600-36949400	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr5:36940600-36956000	Weak transcription	Fetal Intestine Small	intestine
44	chr5:36940600-36985400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr5:36940800-36943600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr5:36940800-36943600	Weak transcription	Brain Angular Gyrus	brain
47	chr5:36940800-36943600	Weak transcription	Brain Hippocampus Middle	brain
48	chr5:36940800-36943800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr5:36940800-36945600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:36940800-36948200	Weak transcription	HSMM	muscle

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