Variant report

Variant	rs4421941
Chromosome Location	chr15:75400740-75400741
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:75339421..75342350-chr15:75399401..75401239,2	MCF-7	breast:
2	chr15:75397784..75400283-chr15:75400579..75402865,2	MCF-7	breast:
3	chr15:75397387..75399012-chr15:75399789..75402626,2	MCF-7	breast:
4	chr15:75400646..75403509-chr15:75493261..75495577,2	MCF-7	breast:
5	chr15:75400403..75403303-chr15:75403990..75407305,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138621	Chromatin interaction
ENSG00000167173	Chromatin interaction
ENSG00000260152	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1021382	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10775208	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10851877	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10851878	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11072525	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11072526	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11072528	0.88[ASN][1000 genomes]
rs11638746	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12102035	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12442392	0.88[ASN][1000 genomes]
rs12442410	0.88[ASN][1000 genomes]
rs12910348	0.87[ASN][1000 genomes]
rs12914536	0.88[ASN][1000 genomes]
rs12917185	0.88[ASN][1000 genomes]
rs12917304	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1602360	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1806793	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1806794	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1867147	0.83[ASN][1000 genomes]
rs2029519	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2029520	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2415158	0.85[ASN][1000 genomes]
rs2415159	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28767543	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34180494	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34511319	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4243032	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4334268	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4381563	0.85[EUR][1000 genomes]
rs4479194	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4480765	0.87[ASN][1000 genomes]
rs4519311	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4886420	0.88[ASN][1000 genomes]
rs4886422	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4886656	0.85[EUR][1000 genomes]
rs4886657	0.85[EUR][1000 genomes]
rs4886658	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4886661	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4886667	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4886668	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4886669	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4995269	0.85[EUR][1000 genomes]
rs55662404	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58201389	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59390721	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6495153	0.88[ASN][1000 genomes]
rs6495154	0.88[ASN][1000 genomes]
rs6495155	0.88[ASN][1000 genomes]
rs6495158	0.86[ASN][1000 genomes]
rs7162055	0.84[ASN][1000 genomes]
rs7162376	0.83[ASN][1000 genomes]
rs7163083	0.88[ASN][1000 genomes]
rs7166695	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7168020	0.81[ASN][1000 genomes]
rs7169545	0.88[ASN][1000 genomes]
rs7169867	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7172205	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7172677	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7177528	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7178005	0.88[ASN][1000 genomes]
rs7178625	0.88[ASN][1000 genomes]
rs7178784	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7179426	0.88[ASN][1000 genomes]
rs7179436	0.84[EUR][1000 genomes]
rs7181933	0.88[ASN][1000 genomes]
rs72730598	0.85[EUR][1000 genomes]
rs72730601	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8025412	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8026273	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8027604	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8028146	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8029092	0.83[EUR][1000 genomes]
rs8029756	0.88[ASN][1000 genomes]
rs8029760	0.88[ASN][1000 genomes]
rs8032208	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8033754	0.88[ASN][1000 genomes]
rs8035588	0.80[ASN][1000 genomes]
rs8035789	0.82[EUR][1000 genomes];0.84[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	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv457205	chr15:75336729-75447773	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv569994	chr15:75336729-75447773	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv904383	chr15:75382542-75520378	Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	esv1796196	chr15:75389382-75531124	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv1039713	chr15:75394213-75674389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75395400-75403400	Enhancers	Placenta	Placenta
2	chr15:75395600-75405800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr15:75396600-75401400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr15:75396600-75402200	Enhancers	HUVEC	blood vessel
5	chr15:75396600-75405600	Enhancers	Primary hematopoietic stem cells	blood
6	chr15:75396600-75406200	Enhancers	Primary B cells from cord blood	blood
7	chr15:75397000-75403600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:75397400-75400800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr15:75397600-75400800	Weak transcription	Right Ventricle	heart
10	chr15:75397600-75400800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr15:75397600-75401400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:75397600-75406800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr15:75397600-75415800	Weak transcription	Ovary	ovary
14	chr15:75397800-75400800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr15:75397800-75400800	Weak transcription	Fetal Muscle Leg	muscle
16	chr15:75397800-75400800	Weak transcription	Left Ventricle	heart
17	chr15:75397800-75402400	Weak transcription	Brain Hippocampus Middle	brain
18	chr15:75398000-75400800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr15:75398000-75400800	Weak transcription	Esophagus	oesophagus
20	chr15:75398000-75401000	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr15:75398000-75401600	Weak transcription	Small Intestine	intestine
22	chr15:75398000-75403000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr15:75398000-75403200	Weak transcription	Pancreas	Pancrea
24	chr15:75398200-75400800	Weak transcription	Fetal Intestine Small	intestine
25	chr15:75398600-75400800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr15:75398600-75400800	Weak transcription	Lung	lung
27	chr15:75398800-75400800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr15:75398800-75400800	Weak transcription	Spleen	Spleen
29	chr15:75398800-75401000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr15:75399600-75400800	Enhancers	Hela-S3	cervix
31	chr15:75399600-75402200	Enhancers	Osteobl	bone
32	chr15:75399600-75402400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:75399800-75400800	Enhancers	NHEK	skin
34	chr15:75399800-75401400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr15:75399800-75401600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr15:75399800-75401800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr15:75399800-75401800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr15:75400000-75401600	Enhancers	NHLF	lung
39	chr15:75400000-75401800	Enhancers	HMEC	breast
40	chr15:75400000-75402400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr15:75400000-75402400	Enhancers	NHDF-Ad	bronchial
42	chr15:75400000-75403000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr15:75400000-75403000	Enhancers	HSMM	muscle
44	chr15:75400200-75401000	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr15:75400200-75401400	Enhancers	A549	lung
46	chr15:75400200-75401600	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr15:75400200-75401600	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr15:75400200-75403600	Enhancers	Dnd41	blood
49	chr15:75400400-75401000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr15:75400400-75401000	Flanking Active TSS	GM12878-XiMat	blood

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