Variant report

Variant	rs71614082
Chromosome Location	chr5:14310172-14310173
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14305343..14307454-chr5:14308968..14310631,2	K562	blood:
2	chr5:14309077..14311493-chr5:14313266..14316028,2	K562	blood:
3	chr5:14304339..14306802-chr5:14309090..14311429,2	MCF-7	breast:
4	chr5:14306569..14308267-chr5:14310168..14313110,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11955435	1.00[ASN][1000 genomes]
rs13175673	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13177026	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17302408	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17303923	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs30616	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34045422	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs42485	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4702028	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs923616	1.00[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	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14270400-14313600	Weak transcription	Small Intestine	intestine
2	chr5:14278000-14341200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:14283000-14319400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:14286200-14320400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:14286400-14321000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:14286600-14314400	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:14287000-14315000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr5:14288000-14324000	Strong transcription	Primary B cells from peripheral blood	blood
9	chr5:14290800-14321200	Strong transcription	Primary B cells from cord blood	blood
10	chr5:14291400-14316600	Weak transcription	Thymus	Thymus
11	chr5:14295600-14313400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:14297800-14316600	Weak transcription	Brain Substantia Nigra	brain
13	chr5:14298000-14316600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:14298000-14316600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:14299000-14314400	Strong transcription	Adipose Nuclei	Adipose
16	chr5:14299200-14315400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:14300000-14311600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:14300000-14313200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:14300000-14316800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:14300400-14310200	Weak transcription	Fetal Thymus	thymus
21	chr5:14301200-14314000	Strong transcription	HepG2	liver
22	chr5:14301800-14310400	Weak transcription	Spleen	Spleen
23	chr5:14302000-14310400	Weak transcription	Fetal Lung	lung
24	chr5:14302000-14313200	Weak transcription	Psoas Muscle	Psoas
25	chr5:14303000-14311400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:14303400-14312200	Strong transcription	Fetal Stomach	stomach
27	chr5:14303600-14312000	Strong transcription	Fetal Intestine Small	intestine
28	chr5:14303600-14312200	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:14303600-14314400	Strong transcription	GM12878-XiMat	blood
30	chr5:14303800-14312200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:14303800-14312400	Strong transcription	Duodenum Mucosa	Duodenum
32	chr5:14303800-14314400	Strong transcription	Liver	Liver
33	chr5:14303800-14323600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:14304000-14311600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:14304000-14323800	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr5:14304200-14313200	Strong transcription	Fetal Muscle Leg	muscle
37	chr5:14304200-14319400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr5:14304200-14321800	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr5:14304800-14311200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr5:14305000-14315000	Strong transcription	HMEC	breast
41	chr5:14305400-14326800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr5:14305600-14313000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:14305600-14313400	Strong transcription	NHLF	lung
44	chr5:14305600-14316400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr5:14305600-14316600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr5:14305600-14316600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr5:14305600-14317600	Strong transcription	HUVEC	blood vessel
48	chr5:14305600-14321200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:14305800-14312600	Strong transcription	HSMMtube	muscle
50	chr5:14306600-14315200	Strong transcription	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links