Variant report

Variant	rs2599508
Chromosome Location	chr5:79782100-79782101
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:79781713..79786255-chr5:79948613..79954295,12	MCF-7	breast:
2	chr5:79775554..79779263-chr5:79781101..79783184,3	K562	blood:
3	chr5:79776960..79779263-chr5:79781101..79783184,2	K562	blood:

Variant related genes	Relation type
ENSG00000228716	Chromatin interaction
ENSG00000113318	Chromatin interaction

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10942926	0.95[ASN][1000 genomes]
rs1097307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1097308	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1097309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1102116	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1103116	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13354660	1.00[JPT][hapmap]
rs1363775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs168938	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs168939	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs168940	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs171595	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs171596	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs171821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[EUR][1000 genomes]
rs173597	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs173598	0.82[ASN][1000 genomes]
rs173599	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs174075	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs174076	0.88[CHB][hapmap]
rs1820119	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs183654	0.83[AFR][1000 genomes]
rs185100	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs187478	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs187479	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs192313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs194540	0.83[ASN][1000 genomes]
rs2112152	0.85[EUR][1000 genomes]
rs2251759	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs248995	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[EUR][1000 genomes]
rs248999	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs249000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs249001	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs249003	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs249004	1.00[ASN][1000 genomes]
rs249005	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs249006	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs249016	0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs249018	0.83[AFR][1000 genomes]
rs249019	0.80[AFR][1000 genomes]
rs249020	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs249021	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs249023	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs249024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs249025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs249026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs249027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs249028	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs249029	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs249030	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs249031	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs249032	1.00[ASN][1000 genomes]
rs249033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs249037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs249038	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs249039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2544592	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2544593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2544598	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2544599	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2544600	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2544603	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2544604	0.95[ASN][1000 genomes]
rs2547487	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2547497	0.82[EUR][1000 genomes]
rs259023	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs259024	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs259025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs259026	0.85[ASN][1000 genomes]
rs259027	0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs259028	0.86[CHB][hapmap];0.95[ASN][1000 genomes]
rs259029	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs259030	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs259031	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs259032	0.95[ASN][1000 genomes]
rs259033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs259034	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs259035	0.82[EUR][1000 genomes]
rs259037	0.86[CHB][hapmap]
rs259038	0.86[CHB][hapmap]
rs259041	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs259042	0.88[CHB][hapmap]
rs259043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.88[EUR][1000 genomes]
rs259044	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs259045	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs259047	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs259048	0.88[CHB][hapmap]
rs259049	1.00[JPT][hapmap]
rs259051	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs259052	0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs259053	1.00[JPT][hapmap]
rs259054	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs259055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3095851	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3096111	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs394076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs394170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs399261	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs401612	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs408899	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4704674	0.95[ASN][1000 genomes]
rs557346	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6887302	1.00[JPT][hapmap]
rs701380	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835726	0.82[ASN][1000 genomes]
rs835729	0.87[ASN][1000 genomes]
rs835731	0.81[EUR][1000 genomes]
rs856765	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs856772	1.00[ASN][1000 genomes]
rs863163	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs969567	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948807	chr5:79549207-79805765	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1028027	chr5:79694699-79841752	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers 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

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79733400-79782600	Weak transcription	NHLF	lung
2	chr5:79744800-79783200	Weak transcription	Colonic Mucosa	Colon
3	chr5:79759400-79782800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:79765600-79783400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:79766600-79782600	Weak transcription	Fetal Heart	heart
6	chr5:79766600-79783400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr5:79766800-79782400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr5:79766800-79782800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:79767800-79783600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:79768200-79782600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:79768200-79782800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:79768200-79783400	Weak transcription	HSMMtube	muscle
13	chr5:79768400-79783400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:79771000-79782800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr5:79771200-79782600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:79771200-79783000	Weak transcription	NH-A	brain
17	chr5:79771400-79782800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr5:79771400-79783000	Weak transcription	Fetal Brain Male	brain
19	chr5:79771600-79782600	Weak transcription	Primary T cells from cord blood	blood
20	chr5:79771600-79783400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr5:79771600-79783400	Weak transcription	NHDF-Ad	bronchial
22	chr5:79772000-79782800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr5:79772000-79783200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr5:79772000-79783200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr5:79772000-79783400	Weak transcription	Left Ventricle	heart
26	chr5:79772000-79783400	Weak transcription	HUVEC	blood vessel
27	chr5:79772400-79783400	Weak transcription	Psoas Muscle	Psoas
28	chr5:79772400-79783400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:79775800-79782400	Weak transcription	Hela-S3	cervix
30	chr5:79775800-79782800	Weak transcription	HMEC	breast
31	chr5:79775800-79782800	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr5:79776000-79782800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:79776000-79783000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr5:79776600-79782800	Weak transcription	Stomach Mucosa	stomach
35	chr5:79777000-79782800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:79777200-79782800	Weak transcription	NHEK	skin
37	chr5:79777200-79783200	Weak transcription	HSMM	muscle
38	chr5:79777200-79783400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:79777400-79782400	Weak transcription	Fetal Kidney	kidney
40	chr5:79777400-79782800	Weak transcription	Colon Smooth Muscle	Colon
41	chr5:79777400-79783400	Weak transcription	Ovary	ovary
42	chr5:79777400-79783600	Weak transcription	Aorta	Aorta
43	chr5:79778200-79782200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:79778400-79782600	Weak transcription	Brain Anterior Caudate	brain
45	chr5:79778600-79782400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr5:79779600-79782800	Weak transcription	Liver	Liver
47	chr5:79779800-79782600	Weak transcription	Brain Hippocampus Middle	brain
48	chr5:79779800-79782800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:79779800-79783000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr5:79779800-79783000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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