Variant report

Variant	rs294692
Chromosome Location	chr5:36959104-36959105
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr5:36958943-36959117	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr5:36959007-36959158	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36959037..36960971-chr5:36969014..36971044,2	K562	blood:

Variant related genes	Relation type
NIPBL	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10041439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10044651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10053695	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10056607	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10223124	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11956853	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1389861	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs150537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs159750	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs159754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs159911	1.00[AMR][1000 genomes]
rs159912	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28408500	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs294690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs294691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs294693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs294696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs294698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs297538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs298970	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs300047	1.00[AMR][1000 genomes]
rs300048	1.00[AMR][1000 genomes]
rs300056	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs300057	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs300059	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs301858	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs301900	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs391366	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs463041	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55786650	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59774526	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6863784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750906	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750908	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7702256	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7724311	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7735990	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9292646	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9764719	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36919800-36961600	Weak transcription	K562	blood
2	chr5:36927600-36961600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr5:36933200-36962000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:36940600-36985400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:36946200-36965000	Weak transcription	Psoas Muscle	Psoas
6	chr5:36946400-36978000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:36946600-36970000	Weak transcription	Left Ventricle	heart
8	chr5:36946600-36976000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:36948400-36985800	Weak transcription	Colonic Mucosa	Colon
10	chr5:36948600-36962000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:36948600-36996600	Weak transcription	HSMMtube	muscle
12	chr5:36948800-36961800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr5:36949600-37086800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:36951000-36975800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr5:36951200-36962200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr5:36951200-36968000	Weak transcription	Aorta	Aorta
17	chr5:36951400-36961600	Weak transcription	Fetal Lung	lung
18	chr5:36951400-36962200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr5:36951400-36963600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr5:36951400-36964600	Weak transcription	Brain Anterior Caudate	brain
21	chr5:36951400-36965000	Weak transcription	HUVEC	blood vessel
22	chr5:36951400-36971000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr5:36951400-37004400	Weak transcription	Right Ventricle	heart
24	chr5:36951600-36959400	Weak transcription	NHDF-Ad	bronchial
25	chr5:36951600-36961400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr5:36951600-36962200	Weak transcription	HMEC	breast
27	chr5:36951600-36962600	Weak transcription	Brain Substantia Nigra	brain
28	chr5:36951600-36963400	Weak transcription	NHLF	lung
29	chr5:36951600-36963600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr5:36951600-36964400	Weak transcription	NH-A	brain
31	chr5:36951600-36971200	Weak transcription	Brain Angular Gyrus	brain
32	chr5:36951600-36975800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:36951600-36976000	Weak transcription	Fetal Brain Female	brain
34	chr5:36951800-36964800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr5:36952200-36971200	Weak transcription	Brain Germinal Matrix	brain
36	chr5:36952200-36985000	Weak transcription	Small Intestine	intestine
37	chr5:36953800-36972600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr5:36954000-36963600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr5:36954000-36969800	Weak transcription	Colon Smooth Muscle	Colon
40	chr5:36954200-36968000	Weak transcription	Lung	lung
41	chr5:36954200-36975800	Weak transcription	Thymus	Thymus
42	chr5:36954200-36978200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr5:36954200-36979800	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr5:36954400-36962200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr5:36954400-36978200	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr5:36954400-37026400	Weak transcription	Pancreas	Pancrea
47	chr5:36954600-36964800	Weak transcription	A549	lung
48	chr5:36954600-36979000	Weak transcription	Brain Hippocampus Middle	brain
49	chr5:36954800-37023600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr5:36955000-36959600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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