Variant report

Variant	rs701380
Chromosome Location	chr5:79776887-79776888
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:79776235..79778856-chr5:79779463..79781234,3	MCF-7	breast:
2	chr5:79776456..79777320-chr5:79968941..79969659,2	MCF-7	breast:
3	chr5:79641722..79642508-chr5:79776780..79777324,2	MCF-7	breast:
4	chr5:79775554..79779263-chr5:79781101..79783184,3	K562	blood:
5	chr5:79773681..79775725-chr5:79775917..79778205,2	MCF-7	breast:
6	chr5:79776769..79777619-chr5:79975544..79976160,2	MCF-7	breast:
7	chr5:79776861..79777378-chr5:79967679..79968657,2	MCF-7	breast:
8	chr5:79776807..79777355-chr5:79950370..79950923,2	MCF-7	breast:
9	chr5:79770285..79774468-chr5:79774572..79777563,4	K562	blood:
10	chr5:79776847..79777727-chr5:79835653..79836475,2	MCF-7	breast:
11	chr5:79765389..79768213-chr5:79774731..79777264,2	K562	blood:
12	chr5:79775911..79778807-chr5:79936874..79939340,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD34B-2	chr5:79775500-79781380	NONHSAT102403

No data

Variant related genes	Relation type
ENSG00000228716	Chromatin interaction
ENSG00000113318	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];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];0.93[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];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1102116	0.84[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];0.91[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];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];0.88[EUR][1000 genomes]
rs173597	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]
rs185100	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs187478	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs187479	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[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];0.92[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];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs249001	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	0.89[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]
rs249020	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];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs249023	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.95[ASN][1000 genomes]
rs249024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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];0.91[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];0.84[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];0.91[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];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs249029	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	0.95[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]
rs249037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];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];0.91[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];0.93[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[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];0.93[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];0.91[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];0.88[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]
rs2599508	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]
rs3095851	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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];0.81[YRI][hapmap];0.84[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];0.81[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs399261	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs401612	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs408899	0.84[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]
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	0.84[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:104 , 50 per page) page: 1 2 3

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	chr5:79759400-79778800	Weak transcription	Small Intestine	intestine
4	chr5:79759400-79779200	Weak transcription	Lung	lung
5	chr5:79759400-79782800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:79763200-79779600	Weak transcription	Gastric	stomach
7	chr5:79765600-79783400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:79766600-79778000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr5:79766600-79779400	Weak transcription	Pancreas	Pancrea
10	chr5:79766600-79782600	Weak transcription	Fetal Heart	heart
11	chr5:79766600-79783400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr5:79766800-79782400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr5:79766800-79782800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:79767200-79780000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:79767800-79777400	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr5:79767800-79783600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:79768200-79778800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:79768200-79782600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:79768200-79782800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:79768200-79783400	Weak transcription	HSMMtube	muscle
21	chr5:79768400-79783400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:79768600-79777000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:79769600-79777200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:79771000-79778000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr5:79771000-79778800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:79771000-79782800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr5:79771200-79777800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr5:79771200-79782600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr5:79771200-79783000	Weak transcription	NH-A	brain
30	chr5:79771400-79777800	Weak transcription	Brain Angular Gyrus	brain
31	chr5:79771400-79779200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr5:79771400-79779400	Weak transcription	Osteobl	bone
33	chr5:79771400-79782800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr5:79771400-79783000	Weak transcription	Fetal Brain Male	brain
35	chr5:79771600-79778000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr5:79771600-79779200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr5:79771600-79782600	Weak transcription	Primary T cells from cord blood	blood
38	chr5:79771600-79783400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr5:79771600-79783400	Weak transcription	NHDF-Ad	bronchial
40	chr5:79772000-79777200	Weak transcription	Brain Hippocampus Middle	brain
41	chr5:79772000-79778800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr5:79772000-79779400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr5:79772000-79779600	Weak transcription	HepG2	liver
44	chr5:79772000-79782800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr5:79772000-79783200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr5:79772000-79783200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr5:79772000-79783400	Weak transcription	Left Ventricle	heart
48	chr5:79772000-79783400	Weak transcription	HUVEC	blood vessel
49	chr5:79772200-79777000	Weak transcription	Ovary	ovary
50	chr5:79772400-79778200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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