Variant report

Variant	rs6814046
Chromosome Location	chr4:48180989-48180990
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10016563	0.81[EUR][1000 genomes]
rs10021919	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10033663	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16861044	0.86[ASN][1000 genomes]
rs16861106	0.82[ASN][1000 genomes]
rs16861108	0.82[ASN][1000 genomes]
rs17470919	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17471024	0.93[EUR][1000 genomes]
rs17471142	0.85[ASN][1000 genomes]
rs17574399	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2456928	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2661535	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28408546	0.94[ASN][1000 genomes]
rs28538414	0.94[ASN][1000 genomes]
rs28702422	0.93[EUR][1000 genomes]
rs3749503	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3792619	0.90[ASN][1000 genomes]
rs4543083	0.82[ASN][1000 genomes]
rs55683170	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55809586	0.81[EUR][1000 genomes]
rs58651988	0.82[ASN][1000 genomes]
rs6814614	0.96[EUR][1000 genomes]
rs6819804	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73244489	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7654182	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7654466	0.80[EUR][1000 genomes]
rs7682890	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7684558	0.98[EUR][1000 genomes]
rs955692	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs996223	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9991974	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1006853	chr4:48164958-48196335	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1011820	chr4:48170669-48186729	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1011366	chr4:48173947-48186644	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1005668	chr4:48173947-48186729	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48157800-48181000	Weak transcription	Pancreas	Pancrea
2	chr4:48158400-48181800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:48158400-48190000	Weak transcription	Aorta	Aorta
4	chr4:48169000-48190000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:48170600-48181200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr4:48171200-48181600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:48173800-48188400	Weak transcription	Lung	lung
8	chr4:48175800-48191600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:48176000-48185200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr4:48176000-48185200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:48176000-48185400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr4:48176200-48185200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr4:48177600-48182200	Weak transcription	HSMM	muscle
14	chr4:48177800-48181600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr4:48178000-48192400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr4:48178200-48182200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr4:48178200-48185200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:48178800-48185400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:48179400-48181000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
20	chr4:48179600-48182200	ZNF genes & repeats	GM12878-XiMat	blood
21	chr4:48180000-48181200	Strong transcription	Primary hematopoietic stem cells	blood
22	chr4:48180200-48183200	Enhancers	Fetal Thymus	thymus
23	chr4:48180400-48181200	Enhancers	Thymus	Thymus
24	chr4:48180600-48181000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:48180600-48181000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:48180600-48181200	Enhancers	H9 Cell Line	embryonic stem cell
27	chr4:48180600-48181200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
28	chr4:48180800-48181200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr4:48180800-48181400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:48180800-48182400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:48180800-48182400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:48180800-48187800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links