Variant report

Variant	rs55767008
Chromosome Location	chr5:96307359-96307360
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:96305644..96307461-chr5:96310426..96312705,2	MCF-7	breast:
2	chr5:96300496..96302966-chr5:96307279..96311164,4	K562	blood:
3	chr5:96306025..96308022-chr5:96517709..96519564,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251513	Chromatin interaction
ENSG00000058729	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10491385	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10491386	0.81[EUR][1000 genomes]
rs10515253	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1057808	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12656253	0.93[ASN][1000 genomes]
rs12657704	0.93[ASN][1000 genomes]
rs17407513	1.00[AFR][1000 genomes]
rs17407871	1.00[AFR][1000 genomes]
rs17407899	1.00[AFR][1000 genomes]
rs17408150	1.00[AFR][1000 genomes]
rs17409040	1.00[AFR][1000 genomes]
rs17446635	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17446755	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17446769	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17446837	0.81[EUR][1000 genomes]
rs17446907	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17446949	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17486181	1.00[AFR][1000 genomes]
rs17486481	1.00[AFR][1000 genomes]
rs17486509	1.00[AFR][1000 genomes]
rs17486775	1.00[AFR][1000 genomes]
rs17486915	1.00[AFR][1000 genomes]
rs17487132	1.00[AFR][1000 genomes]
rs17487596	1.00[AFR][1000 genomes]
rs17531068	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17531164	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17531192	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17531213	0.81[EUR][1000 genomes]
rs17531366	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17628359	1.00[AFR][1000 genomes]
rs17684739	1.00[AFR][1000 genomes]
rs2194245	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2287902	0.93[ASN][1000 genomes]
rs2303210	0.81[ASN][1000 genomes]
rs3797795	0.93[ASN][1000 genomes]
rs3797797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3797798	1.00[ASN][1000 genomes]
rs3797850	0.88[ASN][1000 genomes]
rs41276275	1.00[AFR][1000 genomes]
rs41276279	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs55658367	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs55746248	1.00[AFR][1000 genomes]
rs55769558	1.00[AFR][1000 genomes]
rs55870170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56002769	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs56003936	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs56009267	1.00[AFR][1000 genomes]
rs56071818	1.00[AFR][1000 genomes]
rs56078010	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs58748938	0.88[ASN][1000 genomes]
rs60280354	0.88[ASN][1000 genomes]
rs73141135	0.88[ASN][1000 genomes]
rs7728347	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv948703	chr5:96078309-96368839	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1027472	chr5:96081592-96337550	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1028741	chr5:96082401-96372165	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv598963	chr5:96084776-96363407	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96278200-96314400	Weak transcription	Fetal Intestine Large	intestine
2	chr5:96298000-96309200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr5:96298600-96307800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:96299000-96307800	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr5:96299400-96308200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr5:96299400-96314800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr5:96299400-96315000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr5:96299600-96315000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr5:96299800-96307800	Weak transcription	Thymus	Thymus
10	chr5:96299800-96308000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:96299800-96308200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr5:96299800-96314800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr5:96301200-96307800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:96301600-96311400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr5:96302600-96308600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr5:96303000-96313400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:96303400-96307800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr5:96303400-96308000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr5:96303600-96308000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:96303600-96309200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr5:96303800-96308400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr5:96304600-96307800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:96304600-96307800	Weak transcription	Right Ventricle	heart
24	chr5:96304600-96308000	Weak transcription	Gastric	stomach
25	chr5:96304600-96308000	Weak transcription	Spleen	Spleen
26	chr5:96304600-96308200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr5:96304600-96309800	Weak transcription	Esophagus	oesophagus
28	chr5:96304600-96309800	Weak transcription	Fetal Stomach	stomach
29	chr5:96304600-96314200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:96304600-96315000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:96304600-96315000	Weak transcription	Brain Germinal Matrix	brain
32	chr5:96304600-96315000	Weak transcription	Pancreas	Pancrea
33	chr5:96304600-96329600	Weak transcription	Fetal Brain Female	brain
34	chr5:96304600-96335600	Weak transcription	Stomach Mucosa	stomach
35	chr5:96304800-96308000	Weak transcription	Adipose Nuclei	Adipose
36	chr5:96304800-96308000	Weak transcription	Fetal Thymus	thymus
37	chr5:96304800-96309400	Weak transcription	HSMMtube	muscle
38	chr5:96304800-96309800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:96304800-96309800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr5:96304800-96314400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr5:96304800-96314400	Weak transcription	Fetal Intestine Small	intestine
42	chr5:96304800-96314800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:96304800-96315000	Weak transcription	Aorta	Aorta
44	chr5:96304800-96315000	Weak transcription	HepG2	liver
45	chr5:96304800-96315200	Weak transcription	Fetal Kidney	kidney
46	chr5:96304800-96346600	Weak transcription	Lung	lung
47	chr5:96304800-96359600	Weak transcription	Hela-S3	cervix
48	chr5:96305000-96309600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:96305000-96313000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:96305000-96315000	Weak transcription	A549	lung

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