Variant report

Variant	rs4902630
Chromosome Location	chr14:69142390-69142391
allele	A/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:69142189..69144606-chr14:69257532..69259635,3	MCF-7	breast:
2	chr14:69134172..69139010-chr14:69141375..69149578,10	MCF-7	breast:
3	chr14:69135213..69137998-chr14:69141394..69143507,2	K562	blood:
4	chr14:69142355..69144666-chr14:69256973..69259455,3	MCF-7	breast:
5	chr14:68772159..68774969-chr14:69141691..69143278,2	MCF-7	breast:
6	chr14:68923972..68925932-chr14:69141412..69143252,2	MCF-7	breast:
7	chr14:69141367..69143864-chr14:69145141..69147073,2	MCF-7	breast:
8	chr14:69139896..69142806-chr14:69144430..69145954,2	MCF-7	breast:
9	chr14:68683371..68686097-chr14:69141858..69143811,2	MCF-7	breast:
10	chr14:69135606..69138335-chr14:69141741..69144459,2	K562	blood:
11	chr14:69140612..69143897-chr14:69144932..69147672,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10483820	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1884807	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2145149	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56144448	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7145032	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[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	esv3392590	chr14:69138099-69142797	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4902630	SLC10A1	cis	cerebellum	SCAN

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69136200-69145800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr14:69136800-69150000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:69137800-69148400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:69138200-69144400	Weak transcription	Small Intestine	intestine
5	chr14:69138600-69147800	Weak transcription	Brain Anterior Caudate	brain
6	chr14:69138800-69147200	Weak transcription	Lung	lung
7	chr14:69139200-69150000	Weak transcription	Thymus	Thymus
8	chr14:69139800-69142800	Weak transcription	Fetal Stomach	stomach
9	chr14:69139800-69143000	Weak transcription	Fetal Muscle Leg	muscle
10	chr14:69139800-69143000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr14:69139800-69143200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr14:69139800-69144200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr14:69139800-69144400	Weak transcription	Left Ventricle	heart
14	chr14:69139800-69144400	Weak transcription	Right Atrium	heart
15	chr14:69140000-69143800	Weak transcription	Primary B cells from cord blood	blood
16	chr14:69140000-69147200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr14:69140200-69143000	Weak transcription	Stomach Mucosa	stomach
18	chr14:69140200-69143000	Weak transcription	HepG2	liver
19	chr14:69140400-69143000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr14:69140400-69143200	Weak transcription	Gastric	stomach
21	chr14:69140400-69144600	Weak transcription	Right Ventricle	heart
22	chr14:69140400-69145800	Weak transcription	Liver	Liver
23	chr14:69140600-69146400	Weak transcription	Colon Smooth Muscle	Colon
24	chr14:69140600-69147400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr14:69140800-69143000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:69140800-69146200	Weak transcription	Fetal Lung	lung
27	chr14:69141000-69145400	Weak transcription	Fetal Kidney	kidney
28	chr14:69141400-69142400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:69141400-69142400	Enhancers	Primary B cells from peripheral blood	blood
30	chr14:69141400-69142600	Enhancers	HSMM	muscle
31	chr14:69141400-69143000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr14:69141400-69143000	Enhancers	HUVEC	blood vessel
33	chr14:69141400-69143000	Enhancers	NHEK	skin
34	chr14:69141400-69143400	Enhancers	NHDF-Ad	bronchial
35	chr14:69141400-69143600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr14:69141400-69144400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr14:69141400-69145400	Enhancers	HMEC	breast
38	chr14:69141400-69146200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:69141400-69146800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:69141400-69147000	Enhancers	Fetal Intestine Small	intestine
41	chr14:69141400-69153800	Enhancers	Fetal Intestine Large	intestine
42	chr14:69141400-69156800	Enhancers	Placenta	Placenta
43	chr14:69141600-69142400	Enhancers	Osteobl	bone
44	chr14:69141600-69142600	Enhancers	Hela-S3	cervix
45	chr14:69141600-69143000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr14:69141600-69145200	Enhancers	Placenta Amnion	Placenta Amnion
47	chr14:69141600-69145600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:69141800-69142400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:69141800-69142400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr14:69141800-69142800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links