Variant report

Variant	rs468022
Chromosome Location	chr5:36988252-36988253
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:36743938..36745907-chr5:36986468..36988860,2	MCF-7	breast:
2	chr5:36982523..36985797-chr5:36985897..36989039,3	K562	blood:
3	chr5:36987049..36989193-chr5:36992034..36994434,2	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10512664	1.00[YRI][hapmap]
rs13177875	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13183090	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs151945	0.87[ASN][1000 genomes]
rs151946	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs151947	0.87[ASN][1000 genomes]
rs158410	0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs158411	0.94[CHB][hapmap];0.87[ASN][1000 genomes]
rs158412	0.87[ASN][1000 genomes]
rs158792	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs158793	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs158794	0.91[CEU][hapmap];0.89[CHB][hapmap];1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs158797	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs158798	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs158799	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs158802	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs159140	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs159141	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs167146	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16903459	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16903490	0.85[ASN][1000 genomes]
rs181755	0.87[ASN][1000 genomes]
rs2133786	0.81[ASN][1000 genomes]
rs245587	0.87[ASN][1000 genomes]
rs245588	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs292160	0.94[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs292179	0.94[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs292180	0.94[CHB][hapmap];0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs292181	0.89[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs292186	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs292196	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs293746	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs293748	0.94[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs293774	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs294695	0.94[CHB][hapmap];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34066351	0.88[ASN][1000 genomes]
rs34479946	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34525350	0.81[EUR][1000 genomes]
rs34701667	0.84[ASN][1000 genomes]
rs34920909	0.81[ASN][1000 genomes]
rs35011787	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35263618	0.81[ASN][1000 genomes]
rs35701604	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35899185	0.81[ASN][1000 genomes]
rs56261529	0.99[ASN][1000 genomes]
rs59889951	0.81[ASN][1000 genomes]
rs61748200	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6861906	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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
20	nsv881592	chr5:36954812-37027258	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
21	esv1802391	chr5:36958598-37242600	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
22	nsv881136	chr5:36976160-37029885	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36948600-36996600	Weak transcription	HSMMtube	muscle
2	chr5:36949600-37086800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:36951400-37004400	Weak transcription	Right Ventricle	heart
4	chr5:36954400-37026400	Weak transcription	Pancreas	Pancrea
5	chr5:36954800-37023600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:36955400-37010400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:36959400-36988800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:36959400-36996800	Weak transcription	Gastric	stomach
9	chr5:36962400-37028400	Weak transcription	Spleen	Spleen
10	chr5:36965800-37018600	Weak transcription	Psoas Muscle	Psoas
11	chr5:36966000-36998800	Weak transcription	Fetal Heart	heart
12	chr5:36968800-36996200	Weak transcription	Lung	lung
13	chr5:36968800-37031200	Weak transcription	Aorta	Aorta
14	chr5:36969800-37065000	Weak transcription	Stomach Mucosa	stomach
15	chr5:36972600-37019200	Weak transcription	Brain Angular Gyrus	brain
16	chr5:36974200-36996400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr5:36976400-36996200	Weak transcription	Brain Substantia Nigra	brain
18	chr5:36976400-37010600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr5:36976600-37008800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:36976600-37019200	Weak transcription	NHLF	lung
21	chr5:36976600-37022800	Weak transcription	Fetal Brain Male	brain
22	chr5:36977000-36996000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr5:36977000-37002000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr5:36977000-37003400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr5:36978000-36995800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:36978000-37004400	Weak transcription	Fetal Intestine Small	intestine
27	chr5:36978200-37004200	Weak transcription	Fetal Brain Female	brain
28	chr5:36979000-37002200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:36979800-37057800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr5:36982200-36995800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:36983000-37000400	Weak transcription	HMEC	breast
32	chr5:36983800-36999400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr5:36984200-36996400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr5:36985400-37008800	Weak transcription	Brain Germinal Matrix	brain
35	chr5:36985600-36989600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr5:36985600-36990000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr5:36985600-36995800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr5:36985800-36995200	Weak transcription	Fetal Kidney	kidney
39	chr5:36985800-36996000	Weak transcription	A549	lung
40	chr5:36985800-36996200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:36985800-36996400	Weak transcription	Esophagus	oesophagus
42	chr5:36985800-36999000	Weak transcription	Colon Smooth Muscle	Colon
43	chr5:36986000-36995000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr5:36986000-36995200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr5:36986000-36995800	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr5:36986000-36995800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr5:36986000-36996200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:36986000-36996200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr5:36986000-36996200	Weak transcription	Left Ventricle	heart
50	chr5:36986000-36996400	Weak transcription	Thymus	Thymus

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