Variant report

Variant	rs428191
Chromosome Location	chr5:114947114-114947115
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:114944937..114948434-chr5:114949316..114954143,5	MCF-7	breast:
2	chr5:114937714..114942156-chr5:114944301..114949198,7	K562	blood:
3	chr5:114937684..114940456-chr5:114946742..114949198,3	K562	blood:

Variant related genes	Relation type
ENSG00000249249	Chromatin interaction
ENSG00000243414	Chromatin interaction
ENSG00000251201	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10055677	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs13164545	0.81[CHB][hapmap]
rs13186296	0.88[ASN][1000 genomes]
rs171773	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs171774	0.82[AMR][1000 genomes]
rs2303747	0.82[CHB][hapmap]
rs2559990	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs256941	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs256942	1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs256943	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs256947	0.92[ASN][1000 genomes]
rs256948	0.92[ASN][1000 genomes]
rs256949	0.91[ASN][1000 genomes]
rs256950	0.92[ASN][1000 genomes]
rs256951	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs256952	0.92[ASN][1000 genomes]
rs256953	0.92[ASN][1000 genomes]
rs256954	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs256955	0.87[CHB][hapmap]
rs256962	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs256964	0.84[AMR][1000 genomes]
rs256967	0.81[AMR][1000 genomes]
rs256968	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs256994	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs256996	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs256998	0.81[AMR][1000 genomes]
rs377290	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3822579	0.89[ASN][1000 genomes]
rs387718	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs400570	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs413059	0.96[ASN][1000 genomes]
rs416234	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs424434	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];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs698365	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs698366	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs698367	1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs712550	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs712551	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7702283	0.92[ASN][1000 genomes]
rs7702869	0.91[ASN][1000 genomes]
rs7702881	0.91[ASN][1000 genomes]
rs790824	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs790825	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9326969	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114937800-114951600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr5:114938200-114957200	Weak transcription	Small Intestine	intestine
3	chr5:114938200-114958200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:114938200-114960200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:114938400-114951400	Weak transcription	HepG2	liver
6	chr5:114938600-114948400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr5:114938600-114949600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:114938600-114949600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr5:114938600-114949800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:114938600-114950000	Weak transcription	Fetal Intestine Large	intestine
11	chr5:114938600-114950000	Weak transcription	HSMMtube	muscle
12	chr5:114938600-114950200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr5:114938600-114951600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:114938600-114951800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:114938600-114951800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr5:114938600-114951800	Weak transcription	Esophagus	oesophagus
17	chr5:114938600-114958000	Weak transcription	Ovary	ovary
18	chr5:114938600-114960000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr5:114938800-114947600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr5:114938800-114948400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr5:114938800-114948400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:114938800-114949600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr5:114938800-114949600	Weak transcription	Hela-S3	cervix
24	chr5:114938800-114950000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:114938800-114950200	Weak transcription	Primary T cells from cord blood	blood
26	chr5:114938800-114951600	Weak transcription	K562	blood
27	chr5:114938800-114951800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr5:114938800-114951800	Weak transcription	Thymus	Thymus
29	chr5:114938800-114951800	Weak transcription	NHLF	lung
30	chr5:114938800-114952000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr5:114938800-114953800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:114938800-114954000	Weak transcription	Fetal Brain Female	brain
33	chr5:114938800-114954200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr5:114938800-114954200	Weak transcription	Colonic Mucosa	Colon
35	chr5:114938800-114957400	Weak transcription	Aorta	Aorta
36	chr5:114938800-114958600	Weak transcription	Right Ventricle	heart
37	chr5:114938800-114960000	Weak transcription	Lung	lung
38	chr5:114939000-114947400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr5:114939000-114947800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr5:114939000-114947800	Weak transcription	HUVEC	blood vessel
41	chr5:114939000-114948000	Weak transcription	Fetal Lung	lung
42	chr5:114939000-114948400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:114939000-114949400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr5:114939000-114949600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr5:114939000-114950000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr5:114939000-114950200	Weak transcription	Brain Germinal Matrix	brain
47	chr5:114939000-114955200	Weak transcription	Fetal Heart	heart
48	chr5:114939000-114957200	Weak transcription	Fetal Brain Male	brain
49	chr5:114939000-114957200	Weak transcription	Fetal Intestine Small	intestine
50	chr5:114939000-114957200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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