Variant report

Variant	rs1275820
Chromosome Location	chr14:70185458-70185459
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70167525..70169374-chr14:70183810..70186763,2	K562	blood:
2	chr14:70185030..70187373-chr14:70233789..70235344,2	MCF-7	breast:
3	chr14:70184941..70187799-chr14:70233850..70236833,2	K562	blood:
4	chr14:70178635..70181592-chr14:70183298..70186714,3	K562	blood:
5	chr14:70184516..70187049-chr14:70238294..70240182,2	MCF-7	breast:
6	chr14:70183599..70186731-chr14:70186733..70189536,3	K562	blood:

Variant related genes	Relation type
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11158811	0.88[AFR][1000 genomes]
rs1275741	0.94[AFR][1000 genomes]
rs1275743	0.94[AFR][1000 genomes]
rs1275818	1.00[AFR][1000 genomes]
rs1275819	1.00[AFR][1000 genomes]
rs1275821	1.00[AFR][1000 genomes]
rs1275822	0.94[AFR][1000 genomes]
rs1957366	0.88[AFR][1000 genomes]
rs2181051	0.94[AFR][1000 genomes]
rs2208653	0.88[AFR][1000 genomes]
rs4902740	0.82[AFR][1000 genomes]
rs762050	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70178200-70187000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:70180400-70186200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:70180400-70193400	Weak transcription	Pancreas	Pancrea
4	chr14:70181400-70193600	Weak transcription	Primary T cells from cord blood	blood
5	chr14:70181600-70185600	Enhancers	Fetal Thymus	thymus
6	chr14:70181600-70186200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr14:70181600-70186200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr14:70181600-70186200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:70181600-70186400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr14:70181600-70186400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr14:70181600-70186400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr14:70181600-70188000	Enhancers	Fetal Muscle Leg	muscle
13	chr14:70181600-70193400	Weak transcription	Thymus	Thymus
14	chr14:70182000-70185800	Weak transcription	GM12878-XiMat	blood
15	chr14:70182000-70186600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:70182000-70187200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:70182000-70193200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr14:70182200-70186000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:70182600-70186400	Enhancers	Right Ventricle	heart
20	chr14:70182600-70186800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr14:70182600-70187200	Enhancers	Adipose Nuclei	Adipose
22	chr14:70182600-70187600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:70182600-70188000	Enhancers	Lung	lung
24	chr14:70183000-70185800	Weak transcription	Psoas Muscle	Psoas
25	chr14:70183000-70186400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:70183000-70193400	Weak transcription	Fetal Intestine Small	intestine
27	chr14:70183200-70186200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:70183200-70186400	Weak transcription	Liver	Liver
29	chr14:70183200-70187800	Weak transcription	Fetal Intestine Large	intestine
30	chr14:70183400-70185600	Weak transcription	Fetal Kidney	kidney
31	chr14:70183600-70185800	Weak transcription	HSMM	muscle
32	chr14:70183600-70186000	Weak transcription	Gastric	stomach
33	chr14:70183600-70186200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr14:70183600-70186200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr14:70183600-70186200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr14:70183600-70187200	Enhancers	HUVEC	blood vessel
37	chr14:70183600-70187600	Enhancers	HMEC	breast
38	chr14:70183800-70185800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr14:70183800-70185800	Weak transcription	Left Ventricle	heart
40	chr14:70183800-70185800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr14:70183800-70185800	Weak transcription	HSMMtube	muscle
42	chr14:70183800-70185800	Weak transcription	NHLF	lung
43	chr14:70183800-70186000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:70183800-70186000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr14:70183800-70186200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:70183800-70186200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:70183800-70186200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr14:70183800-70186200	Weak transcription	Fetal Lung	lung
49	chr14:70183800-70186200	Weak transcription	Ovary	ovary
50	chr14:70183800-70186600	Weak transcription	Aorta	Aorta

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