Variant report

Variant	rs1010073
Chromosome Location	chr14:78328593-78328594
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:78328333..78329100-chr14:78428230..78428820,4	MCF-7	breast:
2	chr14:78327921..78329109-chr14:78445594..78446641,5	K562	blood:
3	chr14:78328129..78329110-chr14:78458352..78458866,2	MCF-7	breast:
4	chr14:78327949..78329774-chr14:78457367..78458415,8	MCF-7	breast:
5	chr14:78328254..78328771-chr14:78457551..78458296,2	K562	blood:
6	chr14:78327978..78330671-chr14:78388681..78391406,2	K562	blood:
7	chr14:78328451..78329183-chr14:78495969..78496477,2	MCF-7	breast:
8	chr14:78319863..78321612-chr14:78326389..78328976,3	K562	blood:
9	chr14:78328443..78329200-chr14:78427907..78429148,4	MCF-7	breast:
10	chr14:78327427..78330329-chr14:78335652..78337700,2	MCF-7	breast:
11	chr14:78328370..78329208-chr14:78457451..78458246,4	MCF-7	breast:
12	chr14:78328263..78328876-chr14:79064087..79065092,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000063761	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10150472	0.80[EUR][1000 genomes]
rs17106507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17106513	0.88[YRI][hapmap];0.94[AFR][1000 genomes]
rs17752308	0.89[AMR][1000 genomes]
rs17752428	0.89[AMR][1000 genomes]
rs17752707	0.89[AMR][1000 genomes]
rs17752869	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17752882	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17752974	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17753231	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17753249	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17825422	0.89[AMR][1000 genomes]
rs17825834	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17825983	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17826206	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2287651	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2364	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783959	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783967	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4522354	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45610535	0.89[AMR][1000 genomes]
rs724264	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73313116	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1010073	ADCK1	cis	Whole Blood	GTEx

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78293400-78331800	Weak transcription	Pancreas	Pancrea
2	chr14:78297600-78336600	Weak transcription	Left Ventricle	heart
3	chr14:78297800-78353600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr14:78301400-78342200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr14:78302200-78331000	Weak transcription	Liver	Liver
6	chr14:78306000-78328800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr14:78306000-78331800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:78306000-78356400	Weak transcription	Thymus	Thymus
9	chr14:78306600-78330400	Weak transcription	Dnd41	blood
10	chr14:78310000-78339400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:78310400-78345000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr14:78314200-78348400	Weak transcription	Colon Smooth Muscle	Colon
13	chr14:78320800-78342200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr14:78321400-78342800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr14:78321800-78335400	Weak transcription	Psoas Muscle	Psoas
16	chr14:78321800-78348400	Weak transcription	Placenta	Placenta
17	chr14:78322000-78342000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr14:78322000-78342600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr14:78322200-78353400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr14:78322800-78331600	Enhancers	K562	blood
21	chr14:78323400-78339600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr14:78323600-78330600	Weak transcription	Aorta	Aorta
23	chr14:78323600-78331600	Weak transcription	Primary B cells from cord blood	blood
24	chr14:78324000-78353600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr14:78324200-78354800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr14:78324400-78328800	Weak transcription	Right Ventricle	heart
27	chr14:78324400-78339800	Weak transcription	Ovary	ovary
28	chr14:78324800-78330400	Weak transcription	Stomach Mucosa	stomach
29	chr14:78325000-78332400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr14:78325000-78345000	Weak transcription	Brain Angular Gyrus	brain
31	chr14:78325200-78329200	Strong transcription	Fetal Intestine Small	intestine
32	chr14:78325800-78330800	Weak transcription	Spleen	Spleen
33	chr14:78326400-78339800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr14:78326400-78342000	Weak transcription	Adipose Nuclei	Adipose
35	chr14:78326600-78352800	Weak transcription	Esophagus	oesophagus
36	chr14:78327000-78338000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr14:78327000-78339400	Weak transcription	Fetal Muscle Leg	muscle
38	chr14:78327000-78342000	Weak transcription	Lung	lung
39	chr14:78327200-78329000	Enhancers	Brain Anterior Caudate	brain
40	chr14:78327200-78330600	Weak transcription	Gastric	stomach
41	chr14:78327200-78348600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr14:78327400-78331800	Weak transcription	Fetal Stomach	stomach
43	chr14:78327600-78329400	Enhancers	Brain Hippocampus Middle	brain
44	chr14:78327800-78400600	Weak transcription	Colonic Mucosa	Colon
45	chr14:78328000-78329000	Enhancers	Brain Substantia Nigra	brain
46	chr14:78328000-78331800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr14:78328000-78338200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr14:78328000-78353400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr14:78328200-78328600	Enhancers	Fetal Heart	heart
50	chr14:78328200-78329000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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