Variant report

Variant	rs6535843
Chromosome Location	chr4:153086567-153086568
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10023167	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11721471	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11727188	0.84[ASN][1000 genomes]
rs13115998	0.80[AMR][1000 genomes]
rs1986740	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6849420	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6858503	1.00[CEU][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][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	nsv880341	chr4:152861685-153110256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv931416	chr4:152877808-153440553	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv880774	chr4:153035743-153121818	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6535843	RP11-18H21.1	cis	Whole Blood	GTEx
rs6535843	ACVR1B	trans	lymphoblastoid	seeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:153078000-153090600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:153083800-153089000	Weak transcription	Right Atrium	heart
3	chr4:153085000-153087600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr4:153085200-153087800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr4:153085400-153087200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr4:153085600-153086600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:153085600-153086600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr4:153085600-153086600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:153085600-153086800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr4:153085600-153087200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr4:153085600-153087400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr4:153085600-153087800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr4:153085800-153086800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr4:153085800-153087000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr4:153085800-153087000	Enhancers	HMEC	breast
16	chr4:153085800-153087400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr4:153085800-153087400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr4:153085800-153087600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:153086000-153087000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr4:153086000-153087400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:153086000-153090400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:153086000-153094400	Weak transcription	Aorta	Aorta
23	chr4:153086200-153086600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:153086400-153086600	Enhancers	NH-A	brain
25	chr4:153086400-153086800	Enhancers	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links