Variant report

Variant	rs548862851
Chromosome Location	chr4:48946279-48946280
allele	C/T
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	chr4:48940697..48943486-chr4:48944101..48946747,2	K562	blood:
3	chr4:48945599..48951626-chr4:48954985..48958451,5	MCF-7	breast:
4	chr4:48907439..48910223-chr4:48943864..48946792,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145247	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48942600-48946400	Weak transcription	NH-A	brain
2	chr4:48944600-48946400	Weak transcription	K562	blood
3	chr4:48945000-48946600	Enhancers	Primary T cells from cord blood	blood
4	chr4:48945200-48946800	Enhancers	HMEC	breast
5	chr4:48945200-48947000	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr4:48945200-48947400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:48945200-48956400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:48945400-48947400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:48945400-48947600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr4:48945600-48947200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr4:48945600-48947400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:48945600-48947600	Enhancers	NHEK	skin
13	chr4:48946000-48947600	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr4:48946200-48946400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr4:48946200-48946400	Enhancers	Hela-S3	cervix
16	chr4:48946200-48946600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:48946200-48946600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:48946200-48946600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr4:48946200-48946600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr4:48946200-48946600	Enhancers	Esophagus	oesophagus
21	chr4:48946200-48946600	Enhancers	Gastric	stomach
22	chr4:48946200-48946600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
23	chr4:48946200-48946600	Enhancers	HUVEC	blood vessel
24	chr4:48946200-48946800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:48946200-48946800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:48946200-48946800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr4:48946200-48947200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr4:48946200-48947200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:48946200-48947200	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr4:48946200-48947400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr4:48946200-48947400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:48946200-48947600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr4:48946200-48947600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr4:48946200-48947600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:48946200-48949200	Enhancers	Stomach Mucosa	stomach

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