Variant report

Variant	rs60083419
Chromosome Location	chr6:144625409-144625410
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144619381..144622236-chr6:144622938..144625711,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs2179337	0.83[AMR][1000 genomes]
rs2179338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2179339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59084029	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60318438	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6912024	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6912336	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73585069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73585072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73585080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73585083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73585088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73585090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73585093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73585099	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73585102	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73586908	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73586910	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73586913	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73591120	0.85[AMR][1000 genomes]
rs7745952	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7761266	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830831	chr6:144501371-144649509	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144608400-144626600	Weak transcription	Spleen	Spleen
2	chr6:144608600-144626800	Weak transcription	Esophagus	oesophagus
3	chr6:144608600-144629800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:144608600-144631400	Weak transcription	Colonic Mucosa	Colon
5	chr6:144609200-144626800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:144609200-144641600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:144609600-144628800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr6:144609600-144629000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr6:144609600-144629800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr6:144611400-144626800	Weak transcription	Fetal Thymus	thymus
11	chr6:144613800-144626800	Weak transcription	Thymus	Thymus
12	chr6:144615400-144630200	Weak transcription	Hela-S3	cervix
13	chr6:144616400-144648000	Weak transcription	NHEK	skin
14	chr6:144617200-144629400	Weak transcription	Placenta	Placenta
15	chr6:144617200-144636400	Weak transcription	A549	lung
16	chr6:144617400-144625600	Weak transcription	Fetal Kidney	kidney
17	chr6:144617400-144626800	Weak transcription	Aorta	Aorta
18	chr6:144617400-144628600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr6:144617400-144628800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:144617400-144629000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr6:144617400-144630200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:144617400-144632800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr6:144617600-144629000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr6:144617600-144629800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:144617800-144629800	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr6:144618000-144626800	Weak transcription	Gastric	stomach
27	chr6:144618000-144626800	Weak transcription	Right Ventricle	heart
28	chr6:144618000-144626800	Weak transcription	NH-A	brain
29	chr6:144618200-144628600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr6:144618200-144629400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:144618200-144629800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr6:144618200-144630200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr6:144618200-144630200	Weak transcription	HUVEC	blood vessel
34	chr6:144618400-144626600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:144618400-144626600	Weak transcription	NHLF	lung
36	chr6:144618400-144626800	Weak transcription	Right Atrium	heart
37	chr6:144618400-144628800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr6:144618400-144630000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:144618800-144626600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr6:144619200-144626600	Weak transcription	Osteobl	bone
41	chr6:144619200-144629400	Weak transcription	Fetal Lung	lung
42	chr6:144619200-144634600	Weak transcription	Colon Smooth Muscle	Colon
43	chr6:144619600-144626800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:144619600-144627200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr6:144619600-144629800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr6:144619600-144629800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr6:144619600-144630000	Weak transcription	NHDF-Ad	bronchial
48	chr6:144619800-144626800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr6:144619800-144626800	Weak transcription	Small Intestine	intestine
50	chr6:144619800-144627000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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