Variant report

Variant	rs72734610
Chromosome Location	chr5:36872394-36872395
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:36871480-36872412	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36858168..36860650-chr5:36872272..36874447,2	K562	blood:
2	chr5:36870958..36873840-chr5:36982182..36984989,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C5orf42-2	chr5:36867686-36876860	NONHSAT101045
2	lnc-C5orf42-2	chr5:36871463-36876796	NONHSAT147328

No data

Variant related genes	Relation type
NIPBL	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs55702678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55712022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55739939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55886401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56065778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56272083	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs56332781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72732594	0.90[EUR][1000 genomes]
rs72732600	0.90[EUR][1000 genomes]
rs72732601	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72734604	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72734607	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72734609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72734671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734681	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72734682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72734700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72734702	0.81[EUR][1000 genomes]
rs72736704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736708	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72736710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736723	0.81[EUR][1000 genomes]
rs72736727	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv532133	chr5:36834932-36906436	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36862400-36874000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr5:36862600-36873600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:36862600-36874800	Weak transcription	Aorta	Aorta
4	chr5:36862800-36873800	Weak transcription	NH-A	brain
5	chr5:36863000-36874800	Weak transcription	Left Ventricle	heart
6	chr5:36864000-36873400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:36864400-36873200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:36864600-36874000	Weak transcription	Fetal Stomach	stomach
9	chr5:36864600-36874000	Weak transcription	Thymus	Thymus
10	chr5:36864800-36873600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:36864800-36874000	Weak transcription	Fetal Intestine Small	intestine
12	chr5:36864800-36874800	Weak transcription	Placenta	Placenta
13	chr5:36865800-36873400	Weak transcription	NHDF-Ad	bronchial
14	chr5:36866200-36873600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr5:36866200-36874000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:36867400-36875200	Weak transcription	Lung	lung
17	chr5:36868200-36873400	Weak transcription	NHEK	skin
18	chr5:36868200-36874800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr5:36868400-36873800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr5:36868400-36874000	Weak transcription	Fetal Kidney	kidney
21	chr5:36869400-36873200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:36869400-36873400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr5:36869400-36873600	Weak transcription	Brain Substantia Nigra	brain
24	chr5:36870000-36874600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr5:36870200-36872600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:36870200-36872800	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr5:36870400-36873400	Genic enhancers	Dnd41	blood
28	chr5:36870600-36873400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr5:36870600-36873600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:36870600-36874000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr5:36870800-36873400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr5:36870800-36873400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:36870800-36873400	Weak transcription	HUVEC	blood vessel
34	chr5:36870800-36873600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr5:36870800-36874000	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr5:36870800-36874600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr5:36871000-36872800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr5:36871000-36873000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr5:36871000-36873200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr5:36871000-36873200	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr5:36871000-36873400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr5:36871000-36873400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr5:36871000-36873400	Weak transcription	Brain Angular Gyrus	brain
44	chr5:36871000-36873600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr5:36871000-36873600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:36871000-36874000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr5:36871000-36874000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr5:36871000-36874200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr5:36871000-36874600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr5:36871000-36874600	Weak transcription	H1 Cell Line	embryonic stem cell

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