Variant report

Variant	rs7147147
Chromosome Location	chr14:55407944-55407945
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55367913..55370093-chr14:55406707..55409456,2	MCF-7	breast:
2	chr14:55368109..55370701-chr14:55406226..55408150,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131979	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10151058	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844654	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11845908	1.00[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11845954	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847254	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1354	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128143	1.00[CHD][hapmap]
rs17671485	1.00[ASN][1000 genomes]
rs17738966	1.00[ASN][1000 genomes]
rs17739146	1.00[ASN][1000 genomes]
rs17851309	1.00[CHD][hapmap]
rs1951437	1.00[ASN][1000 genomes]
rs1951438	1.00[ASN][1000 genomes]
rs28678578	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4340245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55934565	1.00[ASN][1000 genomes]
rs61744409	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146775	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7148831	1.00[ASN][1000 genomes]
rs73278735	1.00[ASN][1000 genomes]
rs8016944	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8019791	0.80[YRI][hapmap]

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	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1038242	chr14:55398559-55444839	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7147147	CRLF3	trans	brain	seeQTL

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55394200-55443000	Weak transcription	HSMMtube	muscle
2	chr14:55394400-55409600	Weak transcription	A549	lung
3	chr14:55394400-55428800	Weak transcription	HSMM	muscle
4	chr14:55395200-55414800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:55395200-55422800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:55395400-55415000	Weak transcription	Fetal Muscle Leg	muscle
7	chr14:55402000-55427600	Weak transcription	Fetal Brain Female	brain
8	chr14:55402400-55414200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:55402600-55408000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:55402600-55414800	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr14:55402800-55409400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr14:55402800-55414800	Weak transcription	Hela-S3	cervix
13	chr14:55402800-55416000	Strong transcription	Dnd41	blood
14	chr14:55403000-55409600	Weak transcription	Primary B cells from cord blood	blood
15	chr14:55403000-55411600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr14:55403000-55412200	Weak transcription	Fetal Stomach	stomach
17	chr14:55403000-55413200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr14:55403000-55414800	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr14:55403000-55415200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:55403000-55449000	Weak transcription	Gastric	stomach
21	chr14:55403200-55411000	Weak transcription	HepG2	liver
22	chr14:55403200-55411600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr14:55403200-55414800	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr14:55403200-55421000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:55403200-55442600	Weak transcription	NHEK	skin
26	chr14:55403200-55442800	Weak transcription	NHDF-Ad	bronchial
27	chr14:55403400-55413200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:55403400-55421800	Weak transcription	HMEC	breast
29	chr14:55403600-55408400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr14:55403600-55423800	Weak transcription	K562	blood
31	chr14:55403600-55428600	Weak transcription	HUVEC	blood vessel
32	chr14:55403800-55413400	Weak transcription	Thymus	Thymus
33	chr14:55404000-55408000	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr14:55404200-55413200	Weak transcription	Fetal Intestine Small	intestine
35	chr14:55404400-55413200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:55404400-55427600	Weak transcription	Primary T cells from cord blood	blood
37	chr14:55404600-55411400	Weak transcription	Ovary	ovary
38	chr14:55404800-55409600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr14:55404800-55414600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr14:55404800-55415200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr14:55405200-55408600	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr14:55405200-55408800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr14:55405200-55412400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:55405200-55420200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr14:55405600-55413400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr14:55405800-55413400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:55405800-55414800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr14:55405800-55414800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr14:55406600-55408400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:55406800-55408000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links