Variant report

Variant	rs4982261
Chromosome Location	chr14:35822159-35822160
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35821416..35824471-chr14:35826109..35828501,4	K562	blood:
2	chr14:35817047..35819303-chr14:35821094..35823025,2	K562	blood:
3	chr14:35821200..35823074-chr14:35824484..35827644,3	MCF-7	breast:
4	chr14:35821416..35823849-chr14:35826359..35828501,2	K562	blood:
5	chr14:35759553..35761751-chr14:35821894..35823859,2	MCF-7	breast:
6	chr14:35821242..35825606-chr14:35828536..35833513,6	K562	blood:
7	chr14:35782340..35785234-chr14:35821689..35824167,2	K562	blood:

Variant related genes	Relation type
ENSG00000100902	Chromatin interaction
ENSG00000265530	Chromatin interaction
ENSG00000258860	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10083375	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10083387	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10132397	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10135277	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10135435	0.89[EUR][1000 genomes]
rs10136627	0.91[EUR][1000 genomes]
rs10140133	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10140922	0.94[EUR][1000 genomes]
rs10146008	0.88[ASN][1000 genomes]
rs10146017	0.88[ASN][1000 genomes]
rs10148567	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10162508	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10438062	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11156884	0.85[EUR][1000 genomes]
rs11625311	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12385925	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12435379	0.90[EUR][1000 genomes]
rs12436216	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1475045	0.84[EUR][1000 genomes]
rs1885151	0.88[ASN][1000 genomes]
rs2006074	0.84[ASN][1000 genomes]
rs2006075	0.88[ASN][1000 genomes]
rs28589517	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28627414	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2899835	0.84[ASN][1000 genomes]
rs4981283	0.83[ASN][1000 genomes]
rs4981285	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4981288	0.94[EUR][1000 genomes]
rs4982255	0.81[EUR][1000 genomes]
rs4982258	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982259	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982260	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982262	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982265	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4982267	0.94[EUR][1000 genomes]
rs4982268	0.93[EUR][1000 genomes]
rs55746125	0.87[ASN][1000 genomes]
rs57645874	0.91[EUR][1000 genomes]
rs58519555	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72666622	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72666634	0.94[EUR][1000 genomes]
rs762010	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8003074	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9322950	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1053604	chr14:35548276-35825805	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
5	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
6	nsv456205	chr14:35772940-35826370	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv564318	chr14:35772940-35826370	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv1829386	chr14:35789740-35845927	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv518090	chr14:35802483-35840241	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35816600-35823400	Enhancers	Primary hematopoietic stem cells	blood
2	chr14:35817200-35822200	Weak transcription	Stomach Mucosa	stomach
3	chr14:35817200-35834400	Weak transcription	Esophagus	oesophagus
4	chr14:35817600-35822200	Weak transcription	Fetal Lung	lung
5	chr14:35819400-35825400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:35820600-35822800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr14:35820800-35822400	Enhancers	Fetal Muscle Leg	muscle
8	chr14:35820800-35823000	Enhancers	Fetal Thymus	thymus
9	chr14:35820800-35823400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr14:35820800-35826600	Enhancers	Fetal Intestine Small	intestine
11	chr14:35820800-35826600	Enhancers	Placenta	Placenta
12	chr14:35821000-35822400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr14:35821000-35822400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:35821000-35822400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr14:35821000-35822400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:35821000-35822400	Enhancers	Lung	lung
17	chr14:35821000-35822400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr14:35821000-35822600	Enhancers	Adipose Nuclei	Adipose
19	chr14:35821000-35822600	Enhancers	Fetal Heart	heart
20	chr14:35821000-35822600	Enhancers	Thymus	Thymus
21	chr14:35821000-35822800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr14:35821000-35822800	Enhancers	Left Ventricle	heart
23	chr14:35821000-35822800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr14:35821000-35823200	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr14:35821000-35823200	Enhancers	K562	blood
26	chr14:35821000-35823400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:35821000-35825200	Enhancers	A549	lung
28	chr14:35821200-35822200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:35821200-35822200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:35821200-35822400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr14:35821200-35822400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:35821200-35822400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr14:35821200-35822400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:35821200-35822400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:35821200-35822400	Enhancers	Gastric	stomach
36	chr14:35821200-35822400	Enhancers	Ovary	ovary
37	chr14:35821200-35822600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr14:35821200-35822800	Enhancers	Fetal Stomach	stomach
39	chr14:35821200-35822800	Enhancers	GM12878-XiMat	blood
40	chr14:35821200-35823000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:35821200-35823000	Enhancers	Primary B cells from cord blood	blood
42	chr14:35821200-35823200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:35821200-35823400	Enhancers	Primary T cells from cord blood	blood
44	chr14:35821400-35822200	Weak transcription	Brain Hippocampus Middle	brain
45	chr14:35821400-35822200	Enhancers	Right Ventricle	heart
46	chr14:35821400-35822400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:35821400-35822600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr14:35821400-35823000	Enhancers	Duodenum Mucosa	Duodenum
49	chr14:35821400-35823400	Enhancers	Fetal Intestine Large	intestine
50	chr14:35821400-35823600	Flanking Active TSS	Liver	Liver

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