Variant report

Variant	rs2605256
Chromosome Location	chr4:48946629-48946630
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48907952..48908549-chr4:48945945..48946857,2	MCF-7	breast:
2	chr4:48946560..48948277-chr4:48957901..48960344,2	K562	blood:
3	chr4:48940697..48943486-chr4:48944101..48946747,2	K562	blood:
4	chr4:48945599..48951626-chr4:48954985..48958451,5	MCF-7	breast:
5	chr4:48580476..48581095-chr4:48946367..48946964,2	K562	blood:
6	chr4:48907439..48910223-chr4:48943864..48946792,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145247	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12511764	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12512181	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13113577	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1455941	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1463366	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1463367	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2124435	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2255103	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2572325	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2572326	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2572327	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2572328	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2572351	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2572354	0.84[ASN][1000 genomes]
rs2572355	0.86[ASN][1000 genomes]
rs2605257	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2605258	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2605259	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2605260	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2605261	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2605262	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2605263	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2605265	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2605266	0.88[ASN][1000 genomes]
rs2605267	0.88[ASN][1000 genomes]
rs2605268	0.86[ASN][1000 genomes]
rs2605270	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2605271	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28418993	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2883555	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2916870	0.85[ASN][1000 genomes]
rs936137	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS 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	18 gene(s)	inside rSNPs	diseases
5	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription 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	16 gene(s)	inside rSNPs	diseases
6	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1010381	chr4:48701525-49309842	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1003718	chr4:48771947-49083089	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv916809	chr4:48784318-49083302	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv1011910	chr4:48784332-49154757	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv879010	chr4:48794403-49061141	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv1008733	chr4:48827603-48971172	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv427680	chr4:48829607-49660117	ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
14	nsv4330	chr4:48933036-48958121	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	esv3366299	chr4:48945095-48947243	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48945200-48946800	Enhancers	HMEC	breast
2	chr4:48945200-48947000	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr4:48945200-48947400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:48945200-48956400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:48945400-48947400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:48945400-48947600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr4:48945600-48947200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr4:48945600-48947400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:48945600-48947600	Enhancers	NHEK	skin
10	chr4:48946000-48947600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr4:48946200-48946800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:48946200-48946800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:48946200-48946800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr4:48946200-48947200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr4:48946200-48947200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:48946200-48947200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr4:48946200-48947400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr4:48946200-48947400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:48946200-48947600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr4:48946200-48947600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr4:48946200-48947600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:48946200-48949200	Enhancers	Stomach Mucosa	stomach
23	chr4:48946400-48946800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:48946400-48946800	Flanking Active TSS	Hela-S3	cervix
25	chr4:48946400-48946800	Enhancers	K562	blood
26	chr4:48946400-48947000	Enhancers	NH-A	brain
27	chr4:48946400-48947200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr4:48946400-48947400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr4:48946400-48947400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr4:48946400-48947400	Enhancers	Primary T cells fromperipheralblood	blood
31	chr4:48946400-48947400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr4:48946400-48947400	Enhancers	Fetal Thymus	thymus
33	chr4:48946400-48947600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:48946600-48946800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:48946600-48947000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr4:48946600-48947000	Weak transcription	Gastric	stomach
37	chr4:48946600-48947400	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr4:48946600-48947400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr4:48946600-48951000	Weak transcription	Muscle Satellite Cultured Cells	--

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