Variant report

Variant	rs9972189
Chromosome Location	chr14:78290220-78290221
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78285490..78287761-chr14:78290003..78292616,2	K562	blood:
2	chr14:78269397..78271453-chr14:78289633..78292223,2	K562	blood:

Variant related genes	Relation type
ENSG00000199440	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10139828	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10149767	0.83[CEU][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10150446	0.89[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10150706	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621593	0.82[JPT][hapmap]
rs11848126	0.88[ASN][1000 genomes]
rs11848358	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17106478	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17106499	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17106558	0.87[CEU][hapmap];1.00[JPT][hapmap]
rs1862125	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2111829	0.82[JPT][hapmap]
rs28489182	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28613643	0.88[ASN][1000 genomes]
rs55708480	0.89[EUR][1000 genomes]
rs55898434	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55956517	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55967811	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55976930	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57859162	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61050485	0.89[EUR][1000 genomes]
rs61053946	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493	0.82[JPT][hapmap]
rs7153025	0.94[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs7160485	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs72688844	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009704	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8015796	0.82[JPT][hapmap]
rs8018233	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018945	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8022914	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323652	0.88[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323654	0.88[CEU][hapmap];1.00[JPT][hapmap];0.81[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

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78267200-78304200	Weak transcription	HSMMtube	muscle
2	chr14:78267200-78310800	Weak transcription	Esophagus	oesophagus
3	chr14:78274800-78316600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:78283000-78293400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr14:78283200-78301800	Weak transcription	Small Intestine	intestine
6	chr14:78283600-78311000	Weak transcription	Hela-S3	cervix
7	chr14:78283800-78297200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:78284000-78292200	Weak transcription	Stomach Mucosa	stomach
9	chr14:78284000-78299400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr14:78284200-78298000	Weak transcription	HepG2	liver
11	chr14:78284200-78309400	Weak transcription	Brain Germinal Matrix	brain
12	chr14:78284200-78312600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr14:78284800-78291600	Weak transcription	Fetal Heart	heart
14	chr14:78284800-78300800	Weak transcription	Fetal Brain Male	brain
15	chr14:78284800-78305200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:78285200-78293200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:78285800-78305800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr14:78286200-78299000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr14:78286200-78301800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr14:78286200-78303000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr14:78286400-78293400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr14:78286400-78294000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:78286400-78299200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr14:78286400-78300400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:78286400-78303000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr14:78286400-78305200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:78286600-78292200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:78287000-78290600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:78287000-78292200	Weak transcription	Gastric	stomach
30	chr14:78287000-78297400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr14:78287000-78301400	Weak transcription	Right Ventricle	heart
32	chr14:78287000-78309400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr14:78287000-78309600	Weak transcription	Osteobl	bone
34	chr14:78288400-78290400	Strong transcription	Fetal Intestine Small	intestine
35	chr14:78288600-78290400	Strong transcription	Fetal Intestine Large	intestine
36	chr14:78288600-78290800	Weak transcription	Fetal Lung	lung
37	chr14:78288600-78290800	Strong transcription	Fetal Stomach	stomach
38	chr14:78288600-78293000	Strong transcription	Ovary	ovary
39	chr14:78288600-78299400	Weak transcription	GM12878-XiMat	blood
40	chr14:78288800-78290400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:78288800-78290600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr14:78288800-78295200	Weak transcription	Primary B cells from cord blood	blood
43	chr14:78289200-78292200	Weak transcription	Right Atrium	heart
44	chr14:78289200-78296600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:78289200-78297000	Weak transcription	Aorta	Aorta
46	chr14:78289200-78301200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr14:78289200-78303400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr14:78289400-78291000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr14:78289400-78291800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr14:78289400-78292200	Weak transcription	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links