Variant report

Variant	rs365465
Chromosome Location	chr9:97511839-97511840
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97510167..97511936-chr9:97513211..97515620,2	K562	blood:
2	chr9:97510928..97513839-chr9:97515556..97518922,4	MCF-7	breast:
3	chr9:97510788..97512507-chr9:97764246..97767153,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000148120	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10217441	0.85[EUR][1000 genomes]
rs10732407	0.85[EUR][1000 genomes]
rs10733756	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10739988	0.85[EUR][1000 genomes]
rs10739990	0.85[EUR][1000 genomes]
rs10761360	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10761363	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10821407	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10821411	0.85[EUR][1000 genomes]
rs10993386	0.85[EUR][1000 genomes]
rs12553916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1382411	0.95[AFR][1000 genomes]
rs1382412	0.95[AFR][1000 genomes]
rs1530331	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1542108	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs16911856	0.87[AFR][1000 genomes]
rs17355875	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs191654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2099868	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2165715	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs242260	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2584805	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs356125	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs356128	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs356132	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs356133	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs356136	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs356139	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs356145	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs356147	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs356148	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs356149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs367319	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3887267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3910730	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs397783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs397806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41316526	0.95[AFR][1000 genomes]
rs422502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4332191	0.85[EUR][1000 genomes]
rs438742	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs448899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs456276	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs457795	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4612413	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4743968	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4743970	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4743972	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4743973	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4744382	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4744387	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4744388	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4744402	0.84[AFR][1000 genomes]
rs555799	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56198429	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs562605	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56317174	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58281499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60553517	0.82[AFR][1000 genomes]
rs61086657	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6479569	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6479575	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6479576	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6479577	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6479578	0.85[EUR][1000 genomes]
rs6479579	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6479581	0.85[EUR][1000 genomes]
rs6479582	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6479583	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs66495734	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66642068	0.95[AFR][1000 genomes]
rs66710673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66863985	0.95[AFR][1000 genomes]
rs67208365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68090960	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68091393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7019602	0.85[EUR][1000 genomes]
rs7022963	0.85[EUR][1000 genomes]
rs7025100	0.85[EUR][1000 genomes]
rs7025934	0.87[EUR][1000 genomes]
rs7026714	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7035166	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7037239	0.82[AFR][1000 genomes]
rs7038519	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7038891	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7044371	0.85[EUR][1000 genomes]
rs7047478	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72747019	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7341710	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73532323	0.82[AFR][1000 genomes]
rs73532332	0.82[AFR][1000 genomes]
rs73532340	0.82[AFR][1000 genomes]
rs73532355	0.82[AFR][1000 genomes]
rs73534109	0.82[AFR][1000 genomes]
rs73534113	0.82[AFR][1000 genomes]
rs73534154	0.82[AFR][1000 genomes]
rs73534159	0.82[AFR][1000 genomes]
rs73536042	0.82[AFR][1000 genomes]
rs73536067	0.82[AFR][1000 genomes]
rs73536074	0.82[AFR][1000 genomes]
rs73538140	0.82[AFR][1000 genomes]
rs73538152	0.82[AFR][1000 genomes]
rs73538177	0.95[AFR][1000 genomes]
rs73540059	0.82[AFR][1000 genomes]
rs73540062	0.82[AFR][1000 genomes]
rs7855781	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7867856	0.85[EUR][1000 genomes]
rs7870679	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs894426	0.85[EUR][1000 genomes]
rs894428	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9409589	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9409805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv893596	chr9:97321172-97598966	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1041922	chr9:97444976-97536753	Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97489600-97524800	Weak transcription	Esophagus	oesophagus
2	chr9:97489800-97521600	Weak transcription	Fetal Thymus	thymus
3	chr9:97489800-97522000	Weak transcription	Thymus	Thymus
4	chr9:97489800-97522400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr9:97490000-97512200	Weak transcription	Colon Smooth Muscle	Colon
6	chr9:97490000-97519400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:97490000-97521600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr9:97490200-97512200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr9:97490200-97519200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:97497000-97522000	Weak transcription	Placenta	Placenta
11	chr9:97497200-97522200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr9:97502800-97518800	Weak transcription	K562	blood
13	chr9:97503200-97522400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr9:97503800-97518800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr9:97504400-97522600	Weak transcription	Ovary	ovary
16	chr9:97504600-97521800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr9:97505200-97522200	Weak transcription	NHLF	lung
18	chr9:97506200-97512400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr9:97506200-97521600	Weak transcription	Fetal Stomach	stomach
20	chr9:97506200-97533400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr9:97506400-97522000	Weak transcription	Lung	lung
22	chr9:97506400-97522200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr9:97506400-97526000	Weak transcription	Small Intestine	intestine
24	chr9:97509000-97522600	Weak transcription	Gastric	stomach
25	chr9:97509200-97536000	Weak transcription	Pancreas	Pancrea
26	chr9:97509400-97519000	Weak transcription	NH-A	brain
27	chr9:97509800-97512200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr9:97509800-97519000	Weak transcription	Brain Hippocampus Middle	brain
29	chr9:97510000-97512800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr9:97510600-97512600	ZNF genes & repeats	Primary T cells from cord blood	blood
31	chr9:97510800-97512000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr9:97510800-97512600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:97510800-97512600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr9:97510800-97512600	ZNF genes & repeats	Fetal Brain Female	brain
35	chr9:97510800-97512600	ZNF genes & repeats	A549	lung
36	chr9:97510800-97513600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:97511000-97512000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
38	chr9:97511000-97512600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr9:97511000-97512600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
40	chr9:97511000-97512600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
41	chr9:97511000-97512600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr9:97511000-97512600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr9:97511000-97512600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr9:97511000-97512600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr9:97511000-97512600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
46	chr9:97511000-97512600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
47	chr9:97511000-97512600	ZNF genes & repeats	Dnd41	blood
48	chr9:97511000-97512600	ZNF genes & repeats	HSMM	muscle
49	chr9:97511000-97512800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr9:97511000-97513000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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