Variant report

Variant	rs10993341
Chromosome Location	chr9:97529606-97529607
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97525737..97528052-chr9:97529535..97531764,2	K562	blood:
2	chr9:97529221..97532775-chr9:97533309..97537011,4	K562	blood:
3	chr9:97488223..97490513-chr9:97527802..97530003,2	MCF-7	breast:
4	chr9:97529158..97531102-chr9:97866148..97868747,2	MCF-7	breast:
5	chr9:97528259..97530073-chr9:97535498..97538318,2	MCF-7	breast:
6	chr9:97524321..97526027-chr9:97528891..97531029,2	K562	blood:

Variant related genes	Relation type
ENSG00000148120	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1028843	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10512234	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10512236	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10993325	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10993329	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10993337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993349	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10993350	0.81[EUR][1000 genomes]
rs10993360	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10993362	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10993363	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10993364	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12336061	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12336308	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12336437	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12337706	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12337992	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12338982	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12341764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12341814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12343530	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12344157	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12344256	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12345098	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12345321	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12345763	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12345783	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12346548	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12347744	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12348060	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12348206	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12351111	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12352600	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12352856	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16911670	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16911713	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2025793	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34335636	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41281168	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60048957	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60514919	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61446634	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6479566	0.85[AFR][1000 genomes]
rs7866487	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs925813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9987493	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9987549	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9987803	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[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	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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97506200-97533400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr9:97509200-97536000	Weak transcription	Pancreas	Pancrea
3	chr9:97512600-97530400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr9:97512600-97540800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr9:97512600-97544600	Weak transcription	Psoas Muscle	Psoas
6	chr9:97519800-97531200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:97519800-97544600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:97520400-97531800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr9:97520600-97530600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr9:97520800-97531200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr9:97521800-97541200	Weak transcription	Right Ventricle	heart
12	chr9:97522400-97540400	Weak transcription	Fetal Heart	heart
13	chr9:97522800-97532600	Weak transcription	K562	blood
14	chr9:97522800-97534600	Weak transcription	Fetal Brain Male	brain
15	chr9:97522800-97534600	Weak transcription	NHLF	lung
16	chr9:97523000-97530200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr9:97523000-97534600	Weak transcription	Ovary	ovary
18	chr9:97523200-97529800	Weak transcription	GM12878-XiMat	blood
19	chr9:97523200-97532600	Weak transcription	Brain Hippocampus Middle	brain
20	chr9:97523200-97535000	Weak transcription	Colon Smooth Muscle	Colon
21	chr9:97523400-97529800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr9:97523400-97530000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr9:97523400-97530400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr9:97523400-97530800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr9:97523400-97530800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr9:97523400-97531200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr9:97523400-97532000	Weak transcription	Adipose Nuclei	Adipose
28	chr9:97523400-97532000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr9:97523400-97532000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr9:97523400-97533000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr9:97523400-97533400	Weak transcription	Brain Substantia Nigra	brain
32	chr9:97523400-97533600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr9:97523400-97534400	Weak transcription	Osteobl	bone
34	chr9:97523400-97534600	Weak transcription	Right Atrium	heart
35	chr9:97523400-97535600	Weak transcription	Aorta	Aorta
36	chr9:97523400-97535800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr9:97523400-97541400	Weak transcription	NHEK	skin
38	chr9:97523400-97544400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr9:97523400-97544400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr9:97523400-97545200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr9:97523400-97545200	Weak transcription	Liver	Liver
42	chr9:97523400-97545200	Weak transcription	Lung	lung
43	chr9:97523400-97545400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr9:97523400-97552600	Weak transcription	Dnd41	blood
45	chr9:97523400-97554000	Weak transcription	Primary T cells from cord blood	blood
46	chr9:97523400-97557800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr9:97523400-97563800	Weak transcription	Fetal Kidney	kidney
48	chr9:97523600-97530200	Weak transcription	Fetal Stomach	stomach
49	chr9:97523600-97530800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr9:97523600-97530800	Weak transcription	Fetal Lung	lung

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