Variant report

Variant	rs2005976
Chromosome Location	chr6:15650802-15650803
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:15646355..15648529-chr6:15650273..15652824,2	K562	blood:
2	chr6:15649452..15651058-chr6:15652747..15654421,2	K562	blood:
3	chr6:15648890..15651570-chr6:15661615..15664723,3	K562	blood:

Variant related genes	Relation type
ENSG00000047579	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1474605	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2252470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2619521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2619522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2619524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2619525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2619528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2619545	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2619547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2619549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2619550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2743856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2743857	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2743862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2743863	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs760761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[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	nsv428136	chr6:15595640-15781241	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2755670	chr6:15624762-15736008	Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15600000-15660400	Weak transcription	Hela-S3	cervix
2	chr6:15615000-15652600	Weak transcription	Colonic Mucosa	Colon
3	chr6:15615200-15662200	Weak transcription	Gastric	stomach
4	chr6:15616800-15662000	Weak transcription	Placenta	Placenta
5	chr6:15616800-15662200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:15621800-15662200	Weak transcription	Pancreas	Pancrea
7	chr6:15623800-15662000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr6:15628600-15662000	Weak transcription	NHLF	lung
9	chr6:15629600-15654000	Weak transcription	Osteobl	bone
10	chr6:15629600-15657000	Weak transcription	K562	blood
11	chr6:15629600-15661800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:15632200-15662000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr6:15634400-15657600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:15634600-15657600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:15637200-15662000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:15638200-15662000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:15639400-15662200	Weak transcription	Left Ventricle	heart
18	chr6:15641000-15651600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:15642000-15662000	Weak transcription	Brain Angular Gyrus	brain
20	chr6:15642200-15662200	Weak transcription	Aorta	Aorta
21	chr6:15642400-15661400	Weak transcription	Spleen	Spleen
22	chr6:15642600-15662200	Weak transcription	Esophagus	oesophagus
23	chr6:15642800-15662000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:15642800-15662000	Weak transcription	Lung	lung
25	chr6:15642800-15662000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr6:15643000-15658600	Weak transcription	Fetal Thymus	thymus
27	chr6:15643000-15662000	Weak transcription	Fetal Stomach	stomach
28	chr6:15644400-15658600	Weak transcription	Psoas Muscle	Psoas
29	chr6:15644400-15661800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr6:15644400-15662000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:15644800-15651200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr6:15644800-15658600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr6:15644800-15661800	Weak transcription	HepG2	liver
34	chr6:15644800-15662000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr6:15644800-15662000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr6:15645600-15654800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr6:15645600-15661800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr6:15646000-15653400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr6:15646000-15662000	Weak transcription	NHDF-Ad	bronchial
40	chr6:15646200-15662000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr6:15647000-15651600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr6:15647200-15658800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr6:15647400-15653800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr6:15647600-15653800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr6:15647800-15662000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:15648000-15652000	Strong transcription	Primary B cells from peripheral blood	blood
47	chr6:15648200-15656200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr6:15648200-15662200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr6:15648400-15657200	Weak transcription	Primary T cells from cord blood	blood
50	chr6:15648600-15651600	Strong transcription	Dnd41	blood

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