Variant report

Variant	rs1048949
Chromosome Location	chr9:26903759-26903760
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:26891080..26893894-chr9:26901411..26904515,3	MCF-7	breast:
2	chr9:26900485..26902697-chr9:26902754..26904663,2	K562	blood:

Variant related genes	Relation type
ENSG00000120159	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10283496	0.84[AFR][1000 genomes]
rs10283643	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10967592	0.84[AFR][1000 genomes]
rs10967595	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10967596	0.84[AFR][1000 genomes]
rs10967606	0.84[AFR][1000 genomes]
rs10967607	0.84[AFR][1000 genomes]
rs10967624	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10967634	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10967638	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10967639	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10967640	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10967644	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11999015	1.00[ASN][1000 genomes]
rs12001845	1.00[ASN][1000 genomes]
rs12002068	1.00[ASN][1000 genomes]
rs12003612	1.00[ASN][1000 genomes]
rs12336131	0.84[AFR][1000 genomes]
rs12336425	0.84[AFR][1000 genomes]
rs12337864	0.84[AFR][1000 genomes]
rs12338421	0.84[AFR][1000 genomes]
rs12338678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12338827	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12339063	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12341319	0.84[AFR][1000 genomes]
rs12341560	0.84[AFR][1000 genomes]
rs12343349	0.84[AFR][1000 genomes]
rs12343386	0.84[AFR][1000 genomes]
rs12345094	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12346262	0.89[AFR][1000 genomes]
rs12348209	0.84[AFR][1000 genomes]
rs12348249	0.84[AFR][1000 genomes]
rs12349359	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16910755	1.00[AMR][1000 genomes]
rs16910832	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16910834	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17694121	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17694140	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17694300	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17694306	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17755398	1.00[AMR][1000 genomes]
rs17755820	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17755887	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17755911	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17756221	0.90[EUR][1000 genomes]
rs41271173	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41272237	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs41272239	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55902149	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59478807	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59757728	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61331313	1.00[ASN][1000 genomes]
rs7037860	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73433963	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73643117	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73643119	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73643120	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73643125	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs892570	1.00[AMR][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	nsv1026827	chr9:26693515-26904699	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv528614	chr9:26893662-27074233	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26892800-26916200	Weak transcription	Small Intestine	intestine
2	chr9:26893000-26905600	Weak transcription	Lung	lung
3	chr9:26893000-26916000	Weak transcription	Left Ventricle	heart
4	chr9:26893000-26916000	Weak transcription	Pancreas	Pancrea
5	chr9:26893000-26916200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:26893000-26922600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr9:26893000-26924200	Weak transcription	Esophagus	oesophagus
8	chr9:26893200-26905600	Weak transcription	Ovary	ovary
9	chr9:26893200-26923200	Weak transcription	Right Ventricle	heart
10	chr9:26893400-26904000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr9:26893400-26904000	Weak transcription	HUVEC	blood vessel
12	chr9:26893400-26904400	Weak transcription	Fetal Brain Male	brain
13	chr9:26893400-26904600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:26893400-26904600	Weak transcription	NH-A	brain
15	chr9:26893400-26904800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr9:26893400-26905200	Weak transcription	Colon Smooth Muscle	Colon
17	chr9:26893400-26905200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr9:26893400-26905400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:26893400-26905400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr9:26893400-26905400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr9:26893400-26905400	Weak transcription	NHDF-Ad	bronchial
22	chr9:26893400-26905600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr9:26893400-26905800	Weak transcription	Fetal Stomach	stomach
24	chr9:26893400-26914800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr9:26893400-26916000	Weak transcription	Fetal Lung	lung
26	chr9:26893400-26916800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr9:26893400-26925000	Weak transcription	Stomach Mucosa	stomach
28	chr9:26893400-26936400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr9:26893400-26936400	Weak transcription	Psoas Muscle	Psoas
30	chr9:26893600-26903800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr9:26893600-26904000	Weak transcription	Fetal Thymus	thymus
32	chr9:26893600-26904200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:26893600-26904200	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr9:26893600-26904600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr9:26893600-26904800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr9:26893600-26905200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr9:26893600-26905200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr9:26893600-26905200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr9:26893600-26905200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr9:26893600-26905400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr9:26893600-26905400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr9:26893600-26905400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr9:26893600-26905400	Weak transcription	Osteobl	bone
44	chr9:26893600-26905600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr9:26893600-26905600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr9:26893600-26905600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr9:26893600-26905600	Weak transcription	Thymus	Thymus
48	chr9:26893600-26906600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr9:26893600-26907600	Weak transcription	NHLF	lung
50	chr9:26893600-26912200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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