Variant report

Variant	rs10472110
Chromosome Location	chr5:58883802-58883803
allele	C/G
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	KAP1	chr5:58883278-58883954	U2OS	brain:	n/a	n/a
2	CEBPB	chr5:58883226-58884500	A549	lung:	n/a	n/a
3	NR3C1	chr5:58883741-58884162	A549	lung:	n/a	n/a
4	POLR2A	chr5:58882542-58884154	Hela-S3	cervix:	n/a	n/a
5	TCF12	chr5:58881962-58885264	A549	lung:	n/a	n/a
6	MAX	chr5:58883329-58884128	A549	lung:	n/a	chr5:58883888-58883903 chr5:58883889-58883899
7	FOSL2	chr5:58883089-58884338	A549	lung:	n/a	chr5:58883090-58883099
8	TCF12	chr5:58883252-58884198	A549	lung:	n/a	n/a
9	KAP1	chr5:58883289-58884121	HEK293	kidney:	n/a	n/a
10	BCL3	chr5:58883139-58884358	A549	lung:	n/a	n/a
11	FOXA1	chr5:58883453-58884151	T-47D	breast:	n/a	n/a
12	YY1	chr5:58883796-58884074	A549	lung:	n/a	n/a
13	NR3C1	chr5:58883754-58884111	A549	lung:	n/a	n/a
14	TEAD4	chr5:58883198-58884366	A549	lung:	n/a	n/a
15	ATF3	chr5:58883234-58884342	A549	lung:	n/a	n/a
16	MAX	chr5:58883120-58884326	A549	lung:	n/a	chr5:58883888-58883903 chr5:58883889-58883899
17	TAF1	chr5:58882425-58884070	A549	lung:	n/a	n/a
18	GATA3	chr5:58882367-58884630	A549	lung:	n/a	chr5:58883032-58883043
19	SP1	chr5:58882489-58884349	A549	lung:	n/a	n/a
20	FOXA1	chr5:58883786-58884121	T-47D	breast:	n/a	n/a
21	NR3C1	chr5:58883724-58884196	A549	lung:	n/a	n/a
22	EP300	chr5:58883159-58884564	A549	lung:	n/a	chr5:58883757-58883771 chr5:58883547-58883560 chr5:58883159-58883173
23	FOXA2	chr5:58883236-58884259	A549	lung:	n/a	n/a
24	RAD21	chr5:58883203-58883841	A549	lung:	n/a	n/a
25	SIN3AK20	chr5:58883114-58884206	A549	lung:	n/a	n/a
26	RAD21	chr5:58883193-58884181	A549	lung:	n/a	n/a
27	RAD21	chr5:58883251-58883812	MCF-7	breast:	n/a	n/a
28	FOSL2	chr5:58883781-58884217	A549	lung:	n/a	n/a
29	MAX	chr5:58883185-58884312	A549	lung:	n/a	chr5:58883888-58883903 chr5:58883889-58883899
30	SIN3AK20	chr5:58883209-58884217	A549	lung:	n/a	n/a
31	FOXA2	chr5:58883282-58884297	A549	lung:	n/a	n/a
32	EP300	chr5:58882370-58884694	A549	lung:	n/a	chr5:58883757-58883771 chr5:58882698-58882712 chr5:58883547-58883560 chr5:58883159-58883173 chr5:58883150-58883164
33	CEBPB	chr5:58883307-58884569	A549	lung:	n/a	n/a
34	BCL3	chr5:58883053-58884372	A549	lung:	n/a	chr5:58884357-58884366
35	REST	chr5:58882339-58884262	A549	lung:	n/a	chr5:58883421-58883441 chr5:58883459-58883472 chr5:58883427-58883441
36	REST	chr5:58882645-58884428	H1-neurons	neurons:	n/a	chr5:58883421-58883441 chr5:58883459-58883472 chr5:58883427-58883441
37	SP1	chr5:58881859-58884538	A549	lung:	n/a	n/a
38	TCF7L2	chr5:58883727-58883966	PANC-1	pancreas:	n/a	n/a
39	RAD21	chr5:58882948-58884324	SK-N-SH	brain:	n/a	n/a
40	MXI1	chr5:58882578-58885137	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:164034968..164035708-chr5:58883088..58883850,2	MCF-7	breast:
2	chr5:58883648..58886059-chr5:58910060..58912120,2	MCF-7	breast:

Variant related genes	Relation type
PDE4D	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11952011	1.00[YRI][hapmap]
rs12186707	1.00[YRI][hapmap]
rs296410	1.00[YRI][hapmap]
rs58244062	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598254	chr5:58715782-58923601	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1031631	chr5:58783629-59015470	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv881708	chr5:58869051-59093198	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10472110	C5orf35	cis	parietal	SCAN

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58859400-58884000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:58878800-58888200	Active TSS	Psoas Muscle	Psoas
3	chr5:58879000-58884200	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr5:58879200-58884800	Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr5:58879200-58885000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:58879400-58884000	Active TSS	Brain Substantia Nigra	brain
7	chr5:58879600-58884200	Active TSS	Colonic Mucosa	Colon
8	chr5:58879600-58884400	Active TSS	Brain Angular Gyrus	brain
9	chr5:58880000-58884000	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr5:58880000-58884000	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr5:58880000-58884400	Active TSS	Brain Cingulate Gyrus	brain
12	chr5:58880400-58884000	Active TSS	Brain Anterior Caudate	brain
13	chr5:58882400-58884200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:58882600-58884200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr5:58882600-58884200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:58882600-58884200	Flanking Active TSS	Fetal Lung	lung
17	chr5:58882600-58884600	Enhancers	Small Intestine	intestine
18	chr5:58882800-58884000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:58882800-58884000	Active TSS	Fetal Intestine Large	intestine
20	chr5:58882800-58884200	Active TSS	A549	lung
21	chr5:58883000-58884000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr5:58883000-58884000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr5:58883000-58884000	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr5:58883200-58884000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:58883200-58884000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:58883200-58884000	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr5:58883200-58884000	Active TSS	Duodenum Mucosa	Duodenum
28	chr5:58883200-58884000	Enhancers	Pancreas	Pancrea
29	chr5:58883200-58884000	Flanking Active TSS	HSMM	muscle
30	chr5:58883200-58884000	Flanking Active TSS	NH-A	brain
31	chr5:58883200-58884000	Active TSS	Osteobl	bone
32	chr5:58883200-58884200	Enhancers	Primary B cells from peripheral blood	blood
33	chr5:58883200-58884200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr5:58883200-58884200	Enhancers	Liver	Liver
35	chr5:58883200-58884200	Active TSS	Ovary	ovary
36	chr5:58883200-58884200	Active TSS	Right Atrium	heart
37	chr5:58883200-58884200	Active TSS	Stomach Smooth Muscle	stomach
38	chr5:58883200-58885400	Enhancers	HUVEC	blood vessel
39	chr5:58883400-58884000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr5:58883400-58884000	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr5:58883400-58884000	Active TSS	HSMMtube	muscle
42	chr5:58883400-58884200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:58883400-58884200	Enhancers	Primary hematopoietic stem cells	blood
44	chr5:58883400-58885200	Enhancers	HMEC	breast
45	chr5:58883600-58884000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr5:58883600-58884000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr5:58883600-58884000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr5:58883600-58884000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:58883600-58884000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:58883600-58884000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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