Variant report

Variant	rs4982263
Chromosome Location	chr14:35822265-35822266
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
ENSG00000258860	Chromatin interaction
ENSG00000100902	Chromatin interaction
ENSG00000265530	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11156878	1.00[ASW][hapmap];0.82[MEX][hapmap];0.88[YRI][hapmap]
rs11624462	0.88[YRI][hapmap]
rs11626113	1.00[ASW][hapmap];0.88[YRI][hapmap]
rs11627092	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17458312	0.88[YRI][hapmap]
rs1963154	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1967739	0.82[EUR][1000 genomes]
rs2057337	1.00[ASW][hapmap];0.89[CEU][hapmap];0.81[MEX][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4391963	0.82[EUR][1000 genomes]
rs4432181	1.00[ASW][hapmap];0.88[YRI][hapmap]
rs4982264	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571713	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571714	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013647	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][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];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018657	1.00[ASW][hapmap];0.89[CEU][hapmap];0.81[MEX][hapmap];0.80[TSI][hapmap];0.82[EUR][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:66 , 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	chr14:35817200-35834400	Weak transcription	Esophagus	oesophagus
3	chr14:35819400-35825400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:35820600-35822800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr14:35820800-35822400	Enhancers	Fetal Muscle Leg	muscle
6	chr14:35820800-35823000	Enhancers	Fetal Thymus	thymus
7	chr14:35820800-35823400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr14:35820800-35826600	Enhancers	Fetal Intestine Small	intestine
9	chr14:35820800-35826600	Enhancers	Placenta	Placenta
10	chr14:35821000-35822400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr14:35821000-35822400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:35821000-35822400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr14:35821000-35822400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:35821000-35822400	Enhancers	Lung	lung
15	chr14:35821000-35822400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr14:35821000-35822600	Enhancers	Adipose Nuclei	Adipose
17	chr14:35821000-35822600	Enhancers	Fetal Heart	heart
18	chr14:35821000-35822600	Enhancers	Thymus	Thymus
19	chr14:35821000-35822800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr14:35821000-35822800	Enhancers	Left Ventricle	heart
21	chr14:35821000-35822800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr14:35821000-35823200	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr14:35821000-35823200	Enhancers	K562	blood
24	chr14:35821000-35823400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:35821000-35825200	Enhancers	A549	lung
26	chr14:35821200-35822400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr14:35821200-35822400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:35821200-35822400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr14:35821200-35822400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:35821200-35822400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:35821200-35822400	Enhancers	Gastric	stomach
32	chr14:35821200-35822400	Enhancers	Ovary	ovary
33	chr14:35821200-35822600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr14:35821200-35822800	Enhancers	Fetal Stomach	stomach
35	chr14:35821200-35822800	Enhancers	GM12878-XiMat	blood
36	chr14:35821200-35823000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:35821200-35823000	Enhancers	Primary B cells from cord blood	blood
38	chr14:35821200-35823200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr14:35821200-35823400	Enhancers	Primary T cells from cord blood	blood
40	chr14:35821400-35822400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr14:35821400-35822600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr14:35821400-35823000	Enhancers	Duodenum Mucosa	Duodenum
43	chr14:35821400-35823400	Enhancers	Fetal Intestine Large	intestine
44	chr14:35821400-35823600	Flanking Active TSS	Liver	Liver
45	chr14:35821600-35822400	Enhancers	Pancreas	Pancrea
46	chr14:35821600-35823000	Enhancers	Fetal Muscle Trunk	muscle
47	chr14:35821600-35823400	Enhancers	Hela-S3	cervix
48	chr14:35821600-35843800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr14:35821800-35822400	Genic enhancers	Right Atrium	heart
50	chr14:35821800-35823200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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