Variant report

Variant	rs4744388
Chromosome Location	chr9:97622840-97622841
allele	A/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:97622637..97624202-chr9:97643913..97646583,2	MCF-7	breast:
2	chr9:97622108..97624130-chr9:97681878..97683664,2	MCF-7	breast:
3	chr9:97580607..97583233-chr9:97622786..97625198,2	MCF-7	breast:
4	chr9:97622455..97625860-chr9:97683870..97686784,3	MCF-7	breast:
5	chr9:97621497..97623011-chr9:97887968..97889825,2	MCF-7	breast:
6	chr9:97621507..97626749-chr9:97626893..97633201,8	MCF-7	breast:
7	chr9:97622419..97625186-chr9:97683983..97685680,2	MCF-7	breast:
8	chr9:97621787..97623596-chr9:97671086..97673869,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000158169	Chromatin interaction
ENSG00000148120	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10122127	0.96[AFR][1000 genomes]
rs10217441	0.85[EUR][1000 genomes]
rs10732405	0.92[AFR][1000 genomes]
rs10732407	0.85[EUR][1000 genomes]
rs10733756	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10739986	0.93[AFR][1000 genomes]
rs10739988	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10739990	0.85[EUR][1000 genomes]
rs10761360	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10761363	0.85[EUR][1000 genomes]
rs10821405	0.89[AFR][1000 genomes]
rs10821407	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10821411	0.85[EUR][1000 genomes]
rs10993348	0.85[AFR][1000 genomes]
rs10993386	0.85[EUR][1000 genomes]
rs12553916	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1530331	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1542108	0.85[EUR][1000 genomes]
rs17355875	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs181488	0.85[AFR][1000 genomes]
rs191654	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2099868	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2165715	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2304884	0.92[AFR][1000 genomes]
rs2406899	0.94[AFR][1000 genomes]
rs242260	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2584804	0.90[AFR][1000 genomes]
rs2584805	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2675168	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs356125	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs356128	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs356132	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs356133	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs356135	0.85[AFR][1000 genomes]
rs356136	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs356139	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs356142	0.85[AFR][1000 genomes]
rs356145	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs356147	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs356148	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs356149	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs365465	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs367319	1.00[EUR][1000 genomes]
rs376902	0.85[AFR][1000 genomes]
rs384039	0.85[AFR][1000 genomes]
rs3887267	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3910730	0.82[EUR][1000 genomes]
rs397783	0.87[AMR][1000 genomes]
rs397806	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs415016	0.92[AFR][1000 genomes]
rs422502	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4332191	0.85[EUR][1000 genomes]
rs438742	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs448899	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs456276	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs457795	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4612413	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4743968	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743970	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743972	0.82[EUR][1000 genomes]
rs4743973	0.82[EUR][1000 genomes]
rs4744379	0.82[AFR][1000 genomes]
rs4744380	0.96[AFR][1000 genomes]
rs4744382	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744383	0.91[AFR][1000 genomes]
rs4744387	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs555799	0.97[EUR][1000 genomes]
rs56198429	0.94[EUR][1000 genomes]
rs562605	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56317174	0.94[EUR][1000 genomes]
rs58281499	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60120	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61086657	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6479569	1.00[CEU][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6479570	0.91[AFR][1000 genomes]
rs6479571	0.91[AFR][1000 genomes]
rs6479572	0.92[AFR][1000 genomes]
rs6479574	1.00[CEU][hapmap];0.92[AFR][1000 genomes]
rs6479575	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6479576	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6479577	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6479578	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6479579	0.85[EUR][1000 genomes]
rs6479581	0.85[EUR][1000 genomes]
rs6479582	0.85[EUR][1000 genomes]
rs6479583	0.85[EUR][1000 genomes]
rs66495734	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66710673	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67208365	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68090960	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68091393	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7019602	0.85[EUR][1000 genomes]
rs7022963	0.85[EUR][1000 genomes]
rs7025100	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7025934	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7026714	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7031172	0.84[AFR][1000 genomes]
rs7035166	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7038519	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7038891	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7044371	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7045387	0.96[AFR][1000 genomes]
rs7047478	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72747019	0.94[EUR][1000 genomes]
rs7341710	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7855781	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7864389	0.89[AMR][1000 genomes]
rs7867856	0.85[EUR][1000 genomes]
rs7870679	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs894425	1.00[CEU][hapmap]
rs894426	0.85[EUR][1000 genomes]
rs894428	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9409589	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9409805	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933919	chr9:97619512-97919344	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	293 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97603200-97624600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:97605800-97626000	Weak transcription	Right Atrium	heart
3	chr9:97609800-97623800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr9:97610200-97623200	Weak transcription	Fetal Intestine Large	intestine
5	chr9:97610200-97625800	Weak transcription	Right Ventricle	heart
6	chr9:97610400-97623600	Weak transcription	Fetal Kidney	kidney
7	chr9:97610600-97623000	Weak transcription	NHLF	lung
8	chr9:97612000-97627600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr9:97612800-97626200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr9:97614000-97627800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr9:97614800-97623400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr9:97614800-97623400	Weak transcription	Esophagus	oesophagus
13	chr9:97615000-97623200	Weak transcription	Pancreas	Pancrea
14	chr9:97615000-97623200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr9:97616200-97623600	Weak transcription	Fetal Lung	lung
16	chr9:97616400-97623200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr9:97616400-97623400	Weak transcription	Brain Angular Gyrus	brain
18	chr9:97616600-97629600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr9:97616800-97623200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr9:97616800-97623400	Weak transcription	Stomach Mucosa	stomach
21	chr9:97617000-97627600	Weak transcription	Adipose Nuclei	Adipose
22	chr9:97617200-97623200	Weak transcription	HepG2	liver
23	chr9:97618600-97623200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr9:97618600-97628400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr9:97619800-97623000	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr9:97620600-97627800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr9:97621000-97623200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr9:97621000-97623200	Weak transcription	Fetal Intestine Small	intestine
29	chr9:97621000-97623200	Weak transcription	Fetal Stomach	stomach
30	chr9:97621000-97623800	Weak transcription	Small Intestine	intestine
31	chr9:97621000-97624200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr9:97621400-97623000	Enhancers	Dnd41	blood
33	chr9:97621400-97624600	Enhancers	Primary B cells from peripheral blood	blood
34	chr9:97621400-97625200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr9:97621600-97625200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr9:97621800-97623000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr9:97621800-97623200	Weak transcription	Brain Hippocampus Middle	brain
38	chr9:97621800-97623800	Weak transcription	Brain Anterior Caudate	brain
39	chr9:97621800-97624200	Enhancers	Thymus	Thymus
40	chr9:97621800-97626200	Weak transcription	Fetal Heart	heart
41	chr9:97622000-97623000	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr9:97622000-97623000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr9:97622000-97623200	Weak transcription	HMEC	breast
44	chr9:97622000-97623800	Enhancers	HSMM	muscle
45	chr9:97622000-97625000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr9:97622000-97625200	Enhancers	Placenta	Placenta
47	chr9:97622200-97623000	Enhancers	Primary T cells fromperipheralblood	blood
48	chr9:97622200-97623000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr9:97622200-97623000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr9:97622200-97623000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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