Variant report

Variant	rs10583
Chromosome Location	chr14:24662177-24662178
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24662077-24662317	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:24662142-24662252	K562	blood:	n/a	n/a
3	POLR2A	chr14:24662113-24662290	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:24662177-24662227	AG04449	skin:	fetal
2	chr14:24662177-24662227	AoSMC	blood vessel:	n/a
3	chr14:24662177-24662227	HAEpiC	amniotic membrane:	n/a
4	chr14:24662177-24662227	PFSK-1	brain:	n/a
5	chr14:24662177-24662227	AG10803	skin:	n/a
6	chr14:24662177-24662227	GM19239	blood:	n/a
7	chr14:24662177-24662227	HPAEpiC	pulmonary alveolar:	n/a
8	chr14:24662177-24662227	SK-N-SH	brain:	n/a
9	chr14:24662177-24662227	A549	lung:	n/a
10	chr14:24662177-24662227	Jurkat	blood:	n/a
11	chr14:24662177-24662227	NB4	blood:	n/a
12	chr14:24662177-24662227	CMK	blood:	n/a
13	chr14:24662177-24662227	Hepatocyte	liver:	n/a
14	chr14:24662177-24662227	AG09319	gingival:	n/a
15	chr14:24662177-24662227	HCF	heart:	n/a
16	chr14:24662177-24662227	PANC-1	pancreas:	n/a
17	chr14:24662177-24662227	LNCaP	prostate:	n/a
18	chr14:24662177-24662227	NH-A	brain:	n/a
19	chr14:24662177-24662227	K562	blood:	n/a
20	chr14:24662177-24662227	HRCEpiC	kidney:	n/a
21	chr14:24662177-24662227	SKMC	muscle:	n/a
22	chr14:24662177-24662227	ProgFib	skin:	n/a
23	chr14:24662177-24662227	NHBE	bronchial:	n/a
24	chr14:24662177-24662227	U87	brain:	n/a
25	chr14:24662177-24662227	BJ	skin:	n/a
26	chr14:24662177-24662227	ECC-1	luminal epithelium:	n/a
27	chr14:24662177-24662227	PrEC	prostate:	n/a
28	chr14:24662177-24662227	MCF10A-Er-Src	breast:	n/a
29	chr14:24662177-24662227	HIPEpiC	eye:	n/a
30	chr14:24662177-24662227	HCM	heart:	n/a
31	chr14:24662177-24662227	BE2_C	brain:	n/a
32	chr14:24662177-24662227	Caco-2	colon:	n/a
33	chr14:24662177-24662227	HMEC	breast:	n/a
34	chr14:24662177-24662227	HCT-116	colon:	n/a
35	chr14:24662177-24662227	NHDF-neo	bronchial:	n/a
36	chr14:24662177-24662227	GM12891	blood:	n/a
37	chr14:24662177-24662227	SK-N-MC	brain:	n/a
38	chr14:24662177-24662227	HRPEpiC	eye:	n/a
39	chr14:24662177-24662227	NT2-D1	testis:	n/a
40	chr14:24662177-24662227	SAEC	small airway:	n/a
41	chr14:24662177-24662227	AG09309	skin:	n/a
42	chr14:24662177-24662227	SK-N-SH_RA	brain:	n/a
43	chr14:24662177-24662227	HEEpiC	esophagus:	n/a
44	chr14:24662177-24662227	HL-60	blood:	n/a
45	chr14:24662177-24662227	HepG2	liver:	n/a
46	chr14:24662177-24662227	MCF-7	breast:	n/a
47	chr14:24662177-24662227	AG04450	lung:	fetal
48	chr14:24662177-24662227	GM06990	blood:	n/a
49	chr14:24662177-24662227	HNPCEpiC	eye:	n/a
50	chr14:24662177-24662227	HUVEC	blood vessel:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24657069..24662255-chr14:24679017..24683823,7	K562	blood:
2	chr14:24609343..24611469-chr14:24661918..24663721,2	K562	blood:
3	chr14:24655120..24666858-chr14:24765577..24776253,24	MCF-7	breast:

No data

Variant related genes	Relation type
IPO4	TF binding region
ENSG00000259522	TF binding region
IPO4	CpG island
ENSG00000259522	CpG island
ENSG00000254692	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000100908	Chromatin interaction
ENSG00000136305	Chromatin interaction
ENSG00000213906	Chromatin interaction
ENSG00000196943	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1126432	0.81[MEX][hapmap]
rs12432194	1.00[CEU][hapmap]
rs12436555	1.00[CEU][hapmap]

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	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	esv1827678	chr14:24520544-24663325	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv901498	chr14:24591892-24662177	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10583	DHRS1	cis	cerebellum	SCAN
rs10583	ADCY4	cis	cerebellum	SCAN
rs10583	TGM1	cis	cerebellum	SCAN
rs10583	OSGEP	cis	cerebellum	SCAN
rs10583	DHRS1	cis	parietal	SCAN
rs10583	OR4N2	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24658000-24663400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:24658200-24663800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:24658200-24663800	Weak transcription	Psoas Muscle	Psoas
4	chr14:24658600-24663200	Weak transcription	Stomach Mucosa	stomach
5	chr14:24658600-24663400	Strong transcription	Placenta	Placenta
6	chr14:24658600-24663400	Strong transcription	Fetal Stomach	stomach
7	chr14:24658600-24663600	Weak transcription	Fetal Heart	heart
8	chr14:24658800-24662400	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr14:24658800-24662600	Strong transcription	Adipose Nuclei	Adipose
10	chr14:24658800-24662600	Strong transcription	Brain Cingulate Gyrus	brain
11	chr14:24658800-24662600	Strong transcription	Thymus	Thymus
12	chr14:24658800-24662800	Strong transcription	Fetal Intestine Small	intestine
13	chr14:24658800-24663200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr14:24658800-24663200	Weak transcription	Fetal Brain Male	brain
15	chr14:24658800-24663400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr14:24658800-24663400	Strong transcription	Fetal Muscle Leg	muscle
17	chr14:24658800-24663400	Strong transcription	Skeletal Muscle Male	skeletal muscle
18	chr14:24658800-24663600	Genic enhancers	HepG2	liver
19	chr14:24658800-24663600	Weak transcription	HSMMtube	muscle
20	chr14:24659000-24662400	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr14:24659000-24662400	Strong transcription	Duodenum Mucosa	Duodenum
22	chr14:24659000-24662400	Strong transcription	Fetal Thymus	thymus
23	chr14:24659000-24662400	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr14:24659000-24662400	Strong transcription	NH-A	brain
25	chr14:24659000-24662600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:24659000-24662600	Strong transcription	Fetal Muscle Trunk	muscle
27	chr14:24659000-24662600	Strong transcription	HSMM	muscle
28	chr14:24659000-24663400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:24659000-24663400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr14:24659000-24663600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:24659000-24663600	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr14:24659000-24663600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:24659200-24662400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr14:24659200-24662400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:24659200-24662400	Strong transcription	Primary T cells from cord blood	blood
36	chr14:24659200-24662400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr14:24659200-24662400	Strong transcription	Brain Anterior Caudate	brain
38	chr14:24659200-24662400	Strong transcription	HMEC	breast
39	chr14:24659200-24662600	Strong transcription	Primary B cells from peripheral blood	blood
40	chr14:24659200-24662600	Strong transcription	Brain Hippocampus Middle	brain
41	chr14:24659200-24663000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr14:24659200-24663000	Weak transcription	K562	blood
43	chr14:24659200-24663200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:24659200-24663200	Strong transcription	Fetal Intestine Large	intestine
45	chr14:24659200-24663400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr14:24659200-24663400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr14:24659200-24663400	Genic enhancers	Dnd41	blood
48	chr14:24659200-24663800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr14:24659400-24662200	Strong transcription	Left Ventricle	heart
50	chr14:24659400-24662400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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