Variant report

Variant	rs35443927
Chromosome Location	chr14:103849715-103849716
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:103808733..103811293-chr14:103846736..103850136,4	K562	blood:
2	chr14:103794753..103806137-chr14:103849038..103864103,36	MCF-7	breast:
3	chr14:103799041..103818802-chr14:103836567..103862153,82	K562	blood:
4	chr14:103797262..103804754-chr14:103849003..103864058,49	MCF-7	breast:
5	chr14:103848958..103850556-chr14:103852445..103854637,3	MCF-7	breast:
6	chr14:103843587..103846122-chr14:103847414..103850857,4	K562	blood:

Variant related genes	Relation type
ENSG00000272533	Chromatin interaction
ENSG00000075413	Chromatin interaction
ENSG00000100664	Chromatin interaction
ENSG00000259775	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10459573	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11160750	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11541718	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11625172	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12147655	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12185021	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12588705	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12879663	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12881583	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12883668	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12885234	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12885714	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12885762	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12885786	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12888042	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12889703	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12892062	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12894275	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12896612	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12896832	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12896919	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13987	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17617094	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17617307	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17617832	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17617935	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17679729	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17680085	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1951389	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2065015	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2065016	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2065017	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2065018	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28711288	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34161327	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34347076	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34372508	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34479426	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34606394	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35056010	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35126287	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35224956	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35339837	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35344594	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35366629	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35466180	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35771849	0.86[AMR][1000 genomes]
rs35799018	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35862113	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35999760	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3783396	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3783397	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3783398	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3783400	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4900574	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4900575	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4906323	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4906327	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4906330	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4906331	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4906332	0.86[AMR][1000 genomes]
rs55731474	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55930273	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59858038	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7141674	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71417863	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7143609	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7155822	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7155980	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7159665	0.86[AMR][1000 genomes]
rs7401563	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8004501	0.86[AMR][1000 genomes]
rs8004780	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8012127	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8012623	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[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	nsv1042714	chr14:103085298-103860730	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
3	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
4	nsv9168	chr14:103531729-103913306	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv542200	chr14:103838939-103868007	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103839200-103850800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:103839600-103850600	Weak transcription	Esophagus	oesophagus
3	chr14:103845400-103851000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr14:103845600-103850800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr14:103846200-103850600	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr14:103846400-103850600	Weak transcription	Gastric	stomach
7	chr14:103847200-103850600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr14:103847800-103850600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:103848200-103849800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr14:103848200-103850600	Enhancers	HMEC	breast
11	chr14:103848400-103850400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr14:103848600-103850600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:103849200-103850600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:103849200-103850600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:103849200-103850600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:103849200-103850600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr14:103849200-103850600	Weak transcription	A549	lung
18	chr14:103849200-103850600	Weak transcription	GM12878-XiMat	blood
19	chr14:103849200-103850600	Weak transcription	HSMM	muscle
20	chr14:103849200-103850600	Weak transcription	Osteobl	bone
21	chr14:103849200-103850800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:103849200-103850800	Weak transcription	Hela-S3	cervix
23	chr14:103849400-103849800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr14:103849400-103850400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:103849400-103850400	Weak transcription	NHDF-Ad	bronchial
26	chr14:103849400-103850400	Weak transcription	NHLF	lung
27	chr14:103849400-103850600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:103849400-103850600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:103849400-103850600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:103849400-103850600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr14:103849400-103850600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr14:103849400-103850600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr14:103849400-103850600	Weak transcription	K562	blood
34	chr14:103849400-103850600	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr14:103849400-103850600	Weak transcription	NH-A	brain
36	chr14:103849400-103850600	Weak transcription	NHEK	skin
37	chr14:103849400-103850800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr14:103849400-103850800	Weak transcription	HSMMtube	muscle
39	chr14:103849600-103850600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:103849600-103850800	Weak transcription	Placenta Amnion	Placenta Amnion

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