Variant report

Variant	rs9321982
Chromosome Location	chr6:144919049-144919050
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:144862779..144865501-chr6:144917245..144920128,2	K562	blood:
2	chr6:144862779..144865501-chr6:144916881..144920128,3	K562	blood:
3	chr6:144912593..144916364-chr6:144916671..144919134,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10080939	0.85[AFR][1000 genomes]
rs4428521	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73778367	1.00[AMR][1000 genomes]
rs7742257	0.89[AFR][1000 genomes]
rs7758990	0.84[AFR][1000 genomes]
rs9484893	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496999	0.80[AFR][1000 genomes]
rs9497000	0.80[AFR][1000 genomes]
rs9497002	0.84[AFR][1000 genomes]
rs9497007	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9497017	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9497018	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9497020	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9497026	0.84[AFR][1000 genomes]
rs9497035	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9497040	0.89[AFR][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	nsv1015228	chr6:144780458-144989321	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv538462	chr6:144780458-144989321	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144881800-144937800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:144885800-144943400	Weak transcription	Ovary	ovary
3	chr6:144899600-144931800	Weak transcription	Esophagus	oesophagus
4	chr6:144904400-144931600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:144904400-144931800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:144904600-144921600	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:144904600-144923600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr6:144904600-144939800	Weak transcription	HSMMtube	muscle
9	chr6:144904800-144921200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:144904800-144929000	Weak transcription	Left Ventricle	heart
11	chr6:144904800-144935400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:144905400-144923200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:144905400-144923400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr6:144905800-144922200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr6:144906400-144922800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr6:144908600-144922400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr6:144908600-144922800	Weak transcription	Osteobl	bone
18	chr6:144908800-144947400	Weak transcription	HUVEC	blood vessel
19	chr6:144909400-144931000	Weak transcription	Aorta	Aorta
20	chr6:144910400-144924600	Weak transcription	Fetal Kidney	kidney
21	chr6:144912600-144920800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr6:144912600-144923600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr6:144912800-144922600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr6:144913200-144921400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr6:144914600-144921400	Weak transcription	Adipose Nuclei	Adipose
26	chr6:144914800-144919400	Weak transcription	Dnd41	blood
27	chr6:144914800-144921200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr6:144914800-144921400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:144914800-144921400	Weak transcription	Primary T cells from cord blood	blood
30	chr6:144914800-144921400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:144914800-144921400	Weak transcription	Liver	Liver
32	chr6:144914800-144921600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr6:144914800-144921600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr6:144914800-144921600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:144914800-144921800	Weak transcription	Fetal Lung	lung
36	chr6:144914800-144921800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr6:144914800-144922800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:144914800-144923200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr6:144914800-144929400	Weak transcription	Fetal Thymus	thymus
40	chr6:144914800-144937800	Weak transcription	HSMM	muscle
41	chr6:144914800-144960000	Weak transcription	Lung	lung
42	chr6:144915000-144920600	Weak transcription	HepG2	liver
43	chr6:144915000-144921800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr6:144915000-144934400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:144915200-144921400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:144915200-144922800	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr6:144916000-144919800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:144916000-144921400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr6:144916000-144922400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr6:144917400-144920600	Weak transcription	Primary B cells from cord blood	blood

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