Variant report

Variant	rs11249620
Chromosome Location	chr5:178701055-178701056
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:178694614..178696474-chr5:178699270..178701166,2	K562	blood:
2	chr5:178639660..178640480-chr5:178701010..178701947,3	MCF-7	breast:
3	chr5:178545417..178547035-chr5:178698975..178701216,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11249621	0.98[ASN][1000 genomes]
rs12153439	0.83[AFR][1000 genomes]
rs13158356	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2013411	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2013658	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs62394996	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62395001	0.98[ASN][1000 genomes]
rs6884564	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024560	chr5:178415364-178917595	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv537975	chr5:178415364-178917595	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv817413	chr5:178415365-179020558	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv1033597	chr5:178423101-178752095	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1016097	chr5:178544084-178866001	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1026968	chr5:178545479-178865895	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv537976	chr5:178545479-178865895	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv600496	chr5:178552518-178752351	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv883228	chr5:178604465-178796142	Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv883231	chr5:178614867-178813207	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv830558	chr5:178624391-178805604	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv883232	chr5:178626437-178805612	Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1018641	chr5:178627012-178911254	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv537978	chr5:178627012-178911254	Flanking Bivalent TSS/Enh Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv462577	chr5:178645310-178706162	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv600499	chr5:178645310-178706162	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv462578	chr5:178659691-178713712	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv600500	chr5:178659691-178713712	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv2758031	chr5:178661266-179037529	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
20	esv2759397	chr5:178661266-179037529	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
21	nsv531996	chr5:178669297-178989687	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
22	nsv883233	chr5:178675065-178746447	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv883234	chr5:178686438-178728830	Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178691000-178703600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr5:178691000-178705000	Enhancers	NHDF-Ad	bronchial
3	chr5:178691600-178707000	Enhancers	Ovary	ovary
4	chr5:178692000-178704400	Enhancers	Placenta	Placenta
5	chr5:178692000-178711800	Weak transcription	Gastric	stomach
6	chr5:178693800-178702400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr5:178694600-178703400	Weak transcription	Esophagus	oesophagus
8	chr5:178695400-178704200	Enhancers	Fetal Lung	lung
9	chr5:178696600-178703200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:178698000-178702400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr5:178698200-178703400	Enhancers	HSMMtube	muscle
12	chr5:178698400-178707000	Weak transcription	Colon Smooth Muscle	Colon
13	chr5:178698600-178701400	Weak transcription	Lung	lung
14	chr5:178698800-178704000	Weak transcription	Fetal Intestine Small	intestine
15	chr5:178699000-178704200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr5:178699200-178703200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
17	chr5:178699400-178702200	Enhancers	Stomach Smooth Muscle	stomach
18	chr5:178699600-178702600	Enhancers	Spleen	Spleen
19	chr5:178699600-178703800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr5:178699800-178701400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:178699800-178702000	Enhancers	HSMM	muscle
22	chr5:178699800-178702200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr5:178699800-178704200	Enhancers	Adipose Nuclei	Adipose
24	chr5:178699800-178707600	Enhancers	Fetal Muscle Leg	muscle
25	chr5:178700000-178701400	Enhancers	Fetal Stomach	stomach
26	chr5:178700000-178701800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:178700000-178701800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr5:178700000-178702400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:178700000-178702800	Enhancers	NHLF	lung
30	chr5:178700000-178703200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:178700000-178703800	Weak transcription	Pancreas	Pancrea
32	chr5:178700000-178704400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr5:178700000-178705600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:178700000-178706800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:178700200-178701400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:178700400-178701400	Enhancers	Fetal Kidney	kidney
37	chr5:178700400-178703200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:178700600-178701400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:178700600-178702000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr5:178700600-178704000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr5:178700600-178704200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr5:178700800-178701400	Enhancers	HepG2	liver
43	chr5:178700800-178702400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:178700800-178702600	Enhancers	Osteobl	bone
45	chr5:178701000-178701200	Enhancers	Right Atrium	heart
46	chr5:178701000-178701400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:178701000-178701400	Weak transcription	Colonic Mucosa	Colon
48	chr5:178701000-178702400	Weak transcription	Stomach Mucosa	stomach

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