Variant report

Variant	rs10483285
Chromosome Location	chr14:24799358-24799359
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24797962-24800024	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr14:24797888-24800588	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr14:24798783-24799470	HL-60	blood:	n/a	n/a
4	POLR2A	chr14:24798780-24799478	HL-60	blood:	n/a	n/a
5	POLR2A	chr14:24799122-24799512	HUVEC	blood vessel:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24794139..24796164-chr14:24797754..24799865,2	K562	blood:
2	chr14:24798684..24800642-chr14:24867625..24869190,2	K562	blood:
3	chr14:24796879..24804920-chr14:24831628..24840088,12	MCF-7	breast:
4	chr14:24789439..24822082-chr14:24898039..24913135,99	MCF-7	breast:
5	chr14:24791358..24808812-chr14:24895309..24913599,55	K562	blood:
6	chr14:24629199..24631872-chr14:24798413..24800219,2	MCF-7	breast:
7	chr14:24768871..24772362-chr14:24798723..24803416,4	MCF-7	breast:
8	chr14:24781460..24810019-chr14:24892340..24914262,110	MCF-7	breast:
9	chr14:24796459..24799989-chr14:24897944..24901736,5	K562	blood:
10	chr14:24683967..24686751-chr14:24798225..24800322,2	MCF-7	breast:
11	chr14:24796718..24800207-chr14:24803965..24807105,3	MCF-7	breast:

No data

Variant related genes	Relation type
ADCY4	TF binding region
ENSG00000100968	Chromatin interaction
ENSG00000129465	Chromatin interaction
ENSG00000258973	Chromatin interaction
ENSG00000260669	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000213928	Chromatin interaction
ENSG00000205978	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000157379	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1124644	0.90[CHB][hapmap];0.86[CHD][hapmap]
rs12895908	0.83[ASN][1000 genomes]
rs17102976	0.81[CHB][hapmap];0.87[ASN][1000 genomes]
rs2332324	0.83[ASN][1000 genomes]
rs28561820	0.89[ASN][1000 genomes]
rs3212241	0.84[ASN][1000 genomes]
rs3212245	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs3212254	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4982897	0.85[ASN][1000 genomes]
rs57167043	0.89[ASN][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	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv564060	chr14:24776401-24809795	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv516237	chr14:24793762-24799358	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10483285	DHRS1	cis	multi-tissue	Pritchard
rs10483285	DHRS1	cis	lymphoblastoid	seeQTL
rs10483285	DHRS1	cis	normal skin	skin_eQTL

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24786200-24801600	Weak transcription	Left Ventricle	heart
2	chr14:24787000-24801200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr14:24788400-24801000	Weak transcription	Gastric	stomach
4	chr14:24793800-24801000	Weak transcription	Right Ventricle	heart
5	chr14:24794800-24801200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:24794800-24801200	Weak transcription	K562	blood
7	chr14:24795000-24801200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr14:24795600-24801600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:24796800-24801000	Weak transcription	Colonic Mucosa	Colon
10	chr14:24796800-24801600	Weak transcription	Right Atrium	heart
11	chr14:24796800-24801600	Weak transcription	Osteobl	bone
12	chr14:24797000-24800400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr14:24797000-24800800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr14:24797000-24801000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:24797000-24801000	Weak transcription	Liver	Liver
16	chr14:24797000-24801000	Weak transcription	Lung	lung
17	chr14:24797000-24801000	Weak transcription	Pancreas	Pancrea
18	chr14:24797000-24801000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr14:24797000-24801000	Weak transcription	Dnd41	blood
20	chr14:24797000-24801400	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr14:24797000-24801400	Weak transcription	HUVEC	blood vessel
22	chr14:24797600-24799800	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr14:24797600-24800000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr14:24797800-24799600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:24797800-24801600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:24798000-24799400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr14:24798000-24799600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr14:24798000-24799600	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr14:24798000-24799600	Enhancers	Placenta	Placenta
30	chr14:24798000-24800000	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr14:24798000-24801000	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr14:24798200-24799400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr14:24798200-24799400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:24798200-24799400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr14:24798200-24799600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr14:24798200-24799600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr14:24798400-24799400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr14:24798400-24799400	Enhancers	Primary hematopoietic stem cells	blood
39	chr14:24798400-24799400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr14:24798400-24799400	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr14:24798400-24799400	Genic enhancers	Spleen	Spleen
42	chr14:24798400-24799600	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr14:24798400-24801000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr14:24798400-24801000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr14:24798600-24799400	Enhancers	Fetal Muscle Leg	muscle
46	chr14:24798800-24799600	Weak transcription	Primary B cells from cord blood	blood
47	chr14:24798800-24800000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
48	chr14:24799000-24801600	Weak transcription	Stomach Mucosa	stomach
49	chr14:24799200-24799400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
50	chr14:24799200-24799400	Enhancers	NHDF-Ad	bronchial

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