Variant report

Variant	rs4441672
Chromosome Location	chr3:142149212-142149213
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	chr3:142146723..142149402-chr3:142165233..142167666,2	K562	blood:

Variant related genes	Relation type
ENSG00000114127	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10935461	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11711821	0.85[CEU][hapmap]
rs11925693	0.96[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12695761	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13061823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13075471	0.89[EUR][1000 genomes]
rs1825522	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2086933	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2171035	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2227928	0.91[CHB][hapmap]
rs2862743	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2862744	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2862745	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2862746	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28708455	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3816805	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3922730	0.92[CHB][hapmap]
rs4434160	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4597728	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4608715	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57177110	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6440077	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6440078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6440082	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6440083	0.87[CHB][hapmap]
rs6440089	0.91[CHB][hapmap]
rs6440094	0.92[CHB][hapmap]
rs6769786	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6772400	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6775583	0.81[EUR][1000 genomes]
rs6775718	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6777255	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6780250	0.91[CHB][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6782400	0.91[CHB][hapmap]
rs6782897	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6792259	0.92[CHB][hapmap]
rs6799752	0.92[CHB][hapmap]
rs6800695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6802631	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7610557	0.92[CHB][hapmap]
rs7613664	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7625539	0.84[CEU][hapmap]
rs7627694	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7641330	0.91[CHB][hapmap]
rs7646701	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7651071	0.95[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap]
rs7652687	1.00[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9289647	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9289648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9816736	0.91[CHB][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9820770	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9821271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9826786	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9828178	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9846960	0.86[CHB][hapmap]
rs9847364	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9855140	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9861997	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9869842	0.91[CHB][hapmap]
rs9871402	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv522549	chr3:141812759-142164735	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv877556	chr3:141898980-142331360	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv523945	chr3:141933649-142219542	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv1000083	chr3:141956718-142172666	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv877557	chr3:142090402-142150204	Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv877558	chr3:142123841-142331360	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	nsv523596	chr3:142132749-142164735	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv877559	chr3:142132749-142331360	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv877560	chr3:142132749-142362179	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142083600-142158600	Weak transcription	NHEK	skin
2	chr3:142105000-142151800	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr3:142106800-142150800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:142112200-142151600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:142112200-142152000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr3:142112200-142152200	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr3:142112200-142154600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr3:142112600-142150600	Strong transcription	Placenta	Placenta
9	chr3:142113000-142152200	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr3:142113400-142151800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:142113400-142151800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:142114800-142151800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:142120400-142151800	Strong transcription	Primary B cells from peripheral blood	blood
14	chr3:142120600-142151800	Strong transcription	Dnd41	blood
15	chr3:142125000-142151800	Strong transcription	Fetal Thymus	thymus
16	chr3:142127000-142152000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:142127200-142152200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:142127400-142159600	Weak transcription	Psoas Muscle	Psoas
19	chr3:142127800-142149400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:142131600-142156000	Weak transcription	Fetal Heart	heart
21	chr3:142134200-142152600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr3:142136400-142157400	Weak transcription	HMEC	breast
23	chr3:142136800-142150800	Strong transcription	Liver	Liver
24	chr3:142138400-142149400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr3:142138600-142158600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:142138600-142164600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr3:142138800-142163000	Weak transcription	Spleen	Spleen
28	chr3:142139200-142151200	Weak transcription	Right Ventricle	heart
29	chr3:142139400-142156200	Weak transcription	Small Intestine	intestine
30	chr3:142139400-142157000	Weak transcription	Brain Germinal Matrix	brain
31	chr3:142139400-142158600	Weak transcription	Pancreas	Pancrea
32	chr3:142139400-142163200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr3:142139600-142150400	Strong transcription	Primary hematopoietic stem cells	blood
34	chr3:142141000-142149600	Weak transcription	HepG2	liver
35	chr3:142141200-142157000	Weak transcription	Esophagus	oesophagus
36	chr3:142141600-142162400	Weak transcription	Brain Angular Gyrus	brain
37	chr3:142142000-142149600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr3:142142200-142151200	Weak transcription	Hela-S3	cervix
39	chr3:142142200-142165400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr3:142142400-142153400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr3:142142800-142153200	Weak transcription	HUVEC	blood vessel
42	chr3:142143600-142151800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:142144200-142151600	Strong transcription	Adipose Nuclei	Adipose
44	chr3:142144400-142150200	Strong transcription	Primary B cells from cord blood	blood
45	chr3:142145200-142150400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:142145800-142150400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr3:142145800-142151400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr3:142145800-142152200	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr3:142146000-142150400	Strong transcription	Primary T cells from cord blood	blood
50	chr3:142146000-142150600	Strong transcription	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links