Variant report

Variant	rs72892347
Chromosome Location	chr4:99186170-99186171
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99181433..99184032-chr4:99184791..99188052,5	K562	blood:
2	chr4:99185202..99187066-chr4:99307470..99310118,2	K562	blood:

Variant related genes	Relation type
ENSG00000214559	Chromatin interaction
ENSG00000138698	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs28651913	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2866008	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28683554	1.00[EUR][1000 genomes]
rs58408865	1.00[EUR][1000 genomes]
rs58485619	1.00[EUR][1000 genomes]
rs58977062	1.00[EUR][1000 genomes]
rs59516498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59929475	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60266816	1.00[EUR][1000 genomes]
rs60470511	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60914360	0.86[AFR][1000 genomes]
rs61041466	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72883608	1.00[EUR][1000 genomes]
rs72883610	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72883612	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72883618	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892327	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892332	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892346	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892354	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892355	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892359	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892365	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892368	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72892376	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894293	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894299	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72894392	1.00[EUR][1000 genomes]
rs72896117	1.00[EUR][1000 genomes]
rs72896309	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72896311	1.00[EUR][1000 genomes]
rs72896316	1.00[EUR][1000 genomes]
rs72896319	1.00[EUR][1000 genomes]
rs72896324	1.00[EUR][1000 genomes]
rs72896325	1.00[EUR][1000 genomes]
rs72896335	1.00[EUR][1000 genomes]
rs72896338	1.00[EUR][1000 genomes]
rs72896342	1.00[EUR][1000 genomes]
rs72896346	1.00[EUR][1000 genomes]
rs72896356	1.00[EUR][1000 genomes]
rs72896358	1.00[EUR][1000 genomes]
rs72896365	1.00[EUR][1000 genomes]
rs72896389	1.00[EUR][1000 genomes]
rs72896392	1.00[EUR][1000 genomes]
rs72898341	1.00[EUR][1000 genomes]
rs72898343	1.00[EUR][1000 genomes]
rs72898363	1.00[EUR][1000 genomes]
rs72898376	1.00[EUR][1000 genomes]
rs72898388	1.00[EUR][1000 genomes]
rs72898393	1.00[EUR][1000 genomes]
rs72900361	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72900365	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72900388	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72900390	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv529623	chr4:98501338-99460166	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv1001570	chr4:98976239-99239838	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1004616	chr4:99085875-99308901	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2763801	chr4:99094892-99413853	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv879651	chr4:99105055-99441349	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv879652	chr4:99125659-99303633	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv528127	chr4:99146436-99229839	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv879653	chr4:99152631-99260423	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99183400-99194200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:99183600-99198200	Weak transcription	Ovary	ovary
3	chr4:99183600-99205400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:99184000-99193200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr4:99184000-99196000	Weak transcription	Esophagus	oesophagus
6	chr4:99184000-99197000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr4:99184000-99205800	Weak transcription	Gastric	stomach
8	chr4:99184000-99210400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:99184000-99239600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:99184200-99186200	Enhancers	HUVEC	blood vessel
11	chr4:99184200-99186400	Weak transcription	Liver	Liver
12	chr4:99184200-99187400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:99184200-99188600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr4:99184200-99192800	Weak transcription	HSMM	muscle
15	chr4:99184200-99195200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr4:99184200-99196800	Weak transcription	Fetal Thymus	thymus
17	chr4:99184200-99199000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr4:99184200-99205800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:99184200-99205800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:99184200-99210000	Weak transcription	HSMMtube	muscle
21	chr4:99184200-99242200	Weak transcription	A549	lung
22	chr4:99184400-99188400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr4:99184400-99190400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr4:99184400-99190600	Weak transcription	Fetal Lung	lung
25	chr4:99184600-99186400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:99184600-99205800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:99184600-99211800	Weak transcription	NHLF	lung
28	chr4:99184800-99188000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:99184800-99188800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr4:99184800-99189000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr4:99184800-99189200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr4:99184800-99193200	Weak transcription	Thymus	Thymus
33	chr4:99184800-99195800	Weak transcription	Brain Hippocampus Middle	brain
34	chr4:99184800-99197000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr4:99184800-99197200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:99185000-99186200	Weak transcription	Primary T cells from cord blood	blood
37	chr4:99185000-99186200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr4:99185000-99186400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr4:99185000-99187000	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr4:99185000-99188200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:99185000-99188800	Weak transcription	Primary B cells from cord blood	blood
42	chr4:99185000-99193200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr4:99185000-99197800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr4:99185000-99199600	Weak transcription	NHDF-Ad	bronchial
45	chr4:99185000-99204400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:99185000-99206600	Weak transcription	NH-A	brain
47	chr4:99185200-99186200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:99185200-99186200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr4:99185200-99186200	Weak transcription	K562	blood
50	chr4:99185200-99193000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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