Variant report

Variant	rs10145326
Chromosome Location	chr14:56272038-56272039
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:56263621..56267640-chr14:56269558..56273646,4	K562	blood:
2	chr14:56269404..56272163-chr14:56272459..56274714,3	MCF-7	breast:
3	chr14:56264314..56267640-chr14:56270614..56273646,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10138273	0.90[ASN][1000 genomes]
rs11158056	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12433383	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2152275	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2184561	0.80[CHD][hapmap];0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs4901602	0.92[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55802027	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6573063	0.85[AMR][1000 genomes]
rs67224654	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7150603	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7155999	0.84[AMR][1000 genomes]
rs8006501	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8012083	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8012472	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8012607	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[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	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv901966	chr14:56160904-56436203	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv901977	chr14:56213392-56492996	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10145326	DDHD1	cis	cerebellum	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56269200-56272600	Enhancers	Small Intestine	intestine
2	chr14:56269200-56275200	Enhancers	Fetal Intestine Small	intestine
3	chr14:56269600-56275200	Enhancers	Pancreas	Pancrea
4	chr14:56270000-56273800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr14:56270200-56273400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr14:56270200-56273400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:56270400-56273600	Weak transcription	K562	blood
8	chr14:56270600-56275200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr14:56270800-56273200	Weak transcription	Dnd41	blood
10	chr14:56270800-56273400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:56270800-56273400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:56270800-56273400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:56270800-56273600	Weak transcription	Esophagus	oesophagus
14	chr14:56270800-56273800	Weak transcription	HepG2	liver
15	chr14:56271000-56273400	Weak transcription	NHEK	skin
16	chr14:56271200-56272400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr14:56271200-56272600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr14:56271200-56272800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr14:56271200-56272800	Enhancers	Stomach Mucosa	stomach
20	chr14:56271200-56273400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr14:56271200-56273400	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr14:56271200-56273400	Weak transcription	HUVEC	blood vessel
23	chr14:56271200-56275200	Enhancers	Fetal Intestine Large	intestine
24	chr14:56271600-56272800	Enhancers	Left Ventricle	heart
25	chr14:56271600-56273400	Enhancers	Hela-S3	cervix
26	chr14:56271600-56275200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr14:56271800-56273400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:56271800-56274200	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr14:56271800-56274800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr14:56272000-56273400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:56272000-56273400	Weak transcription	Right Ventricle	heart
32	chr14:56272000-56274200	Enhancers	Duodenum Mucosa	Duodenum
33	chr14:56272000-56274200	Enhancers	Fetal Heart	heart
34	chr14:56272000-56274400	Weak transcription	Gastric	stomach
35	chr14:56272000-56275200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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