Variant report

Variant	rs12344256
Chromosome Location	chr9:97498046-97498047
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:97494353..97497226-chr9:97497507..97500698,3	K562	blood:
2	chr9:97495948..97498258-chr9:97507078..97508866,2	K562	blood:
3	chr9:97487875..97491312-chr9:97494821..97498928,5	MCF-7	breast:

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:49)

rs_ID	r²[population]
rs1028843	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10512234	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10512236	0.80[EUR][1000 genomes]
rs10993325	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10993329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10993337	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10993340	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10993341	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10993349	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10993360	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10993362	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10993363	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10993364	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12336061	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12336308	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12336437	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12337706	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12337992	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12338982	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12341764	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12341814	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12343530	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12344157	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12345098	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12345321	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12345763	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12345783	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12346548	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12347744	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12348060	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12348206	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12351111	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12352600	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12352856	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16911670	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16911713	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2025793	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34335636	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3808890	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41281168	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60048957	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60514919	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61446634	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6479566	0.93[AFR][1000 genomes]
rs7866487	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs925813	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9987493	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9987549	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9987803	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv2764145	chr9:97495261-97505608	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97489600-97503200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr9:97489600-97504000	Weak transcription	Ovary	ovary
3	chr9:97489600-97506000	Weak transcription	Lung	lung
4	chr9:97489600-97524800	Weak transcription	Esophagus	oesophagus
5	chr9:97489800-97502000	Weak transcription	Fetal Intestine Large	intestine
6	chr9:97489800-97502200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr9:97489800-97505200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr9:97489800-97505800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr9:97489800-97505800	Weak transcription	Right Ventricle	heart
10	chr9:97489800-97508000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr9:97489800-97511000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr9:97489800-97511400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr9:97489800-97511600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr9:97489800-97521600	Weak transcription	Fetal Thymus	thymus
15	chr9:97489800-97522000	Weak transcription	Thymus	Thymus
16	chr9:97489800-97522400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr9:97490000-97498800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:97490000-97502200	Weak transcription	Brain Angular Gyrus	brain
19	chr9:97490000-97502400	Weak transcription	Fetal Kidney	kidney
20	chr9:97490000-97505400	Weak transcription	HMEC	breast
21	chr9:97490000-97505600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr9:97490000-97510600	Weak transcription	Primary T cells from cord blood	blood
23	chr9:97490000-97510800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr9:97490000-97510800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr9:97490000-97510800	Weak transcription	Fetal Brain Female	brain
26	chr9:97490000-97510800	Weak transcription	NHDF-Ad	bronchial
27	chr9:97490000-97511600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr9:97490000-97511600	Weak transcription	Osteobl	bone
29	chr9:97490000-97512200	Weak transcription	Colon Smooth Muscle	Colon
30	chr9:97490000-97519400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr9:97490000-97521600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr9:97490200-97499000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr9:97490200-97502400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr9:97490200-97502600	Weak transcription	Primary B cells from cord blood	blood
35	chr9:97490200-97504600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr9:97490200-97508800	Weak transcription	Fetal Muscle Leg	muscle
37	chr9:97490200-97510800	Weak transcription	GM12878-XiMat	blood
38	chr9:97490200-97511000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr9:97490200-97511000	Weak transcription	NHEK	skin
40	chr9:97490200-97512200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr9:97490200-97519200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr9:97490400-97498400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr9:97490400-97500200	Weak transcription	A549	lung
44	chr9:97490400-97508800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr9:97490400-97508800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr9:97490400-97511400	Weak transcription	Hela-S3	cervix
47	chr9:97490400-97511600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr9:97490600-97499000	Weak transcription	Brain Hippocampus Middle	brain
49	chr9:97490600-97510800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr9:97491000-97502200	Weak transcription	Brain Anterior Caudate	brain

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