Variant report

Variant	rs60800156
Chromosome Location	chr6:144629490-144629491
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144622631..144624157-chr6:144629354..144630857,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs55842866	1.00[AMR][1000 genomes]
rs57632768	1.00[AMR][1000 genomes]
rs57945244	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58244219	1.00[AMR][1000 genomes]
rs58476463	1.00[AMR][1000 genomes]
rs58595212	1.00[AMR][1000 genomes]
rs60593456	1.00[AMR][1000 genomes]
rs61128349	1.00[AMR][1000 genomes]
rs61224948	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73780530	1.00[AMR][1000 genomes]
rs73780542	1.00[AMR][1000 genomes]
rs73780543	1.00[AMR][1000 genomes]
rs73780545	1.00[AMR][1000 genomes]
rs73780546	1.00[AMR][1000 genomes]
rs7766619	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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144608600-144629800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:144608600-144631400	Weak transcription	Colonic Mucosa	Colon
3	chr6:144609200-144641600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:144609600-144629800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr6:144615400-144630200	Weak transcription	Hela-S3	cervix
6	chr6:144616400-144648000	Weak transcription	NHEK	skin
7	chr6:144617200-144636400	Weak transcription	A549	lung
8	chr6:144617400-144630200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:144617400-144632800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr6:144617600-144629800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:144617800-144629800	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr6:144618200-144629800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:144618200-144630200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr6:144618200-144630200	Weak transcription	HUVEC	blood vessel
15	chr6:144618400-144630000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:144619200-144634600	Weak transcription	Colon Smooth Muscle	Colon
17	chr6:144619600-144629800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr6:144619600-144629800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr6:144619600-144630000	Weak transcription	NHDF-Ad	bronchial
20	chr6:144619800-144629600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr6:144619800-144631800	Weak transcription	Fetal Heart	heart
22	chr6:144619800-144634600	Weak transcription	Brain Hippocampus Middle	brain
23	chr6:144620000-144629600	Weak transcription	Dnd41	blood
24	chr6:144620400-144629800	Weak transcription	Fetal Intestine Large	intestine
25	chr6:144622400-144637000	Genic enhancers	HepG2	liver
26	chr6:144623400-144629600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:144623400-144629600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr6:144624200-144632000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr6:144624200-144641400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr6:144624200-144641600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:144624400-144648000	Weak transcription	HMEC	breast
32	chr6:144625800-144632600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr6:144627000-144634600	Weak transcription	Small Intestine	intestine
34	chr6:144627400-144629800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:144627400-144630000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr6:144627400-144634600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr6:144627400-144641800	Weak transcription	Thymus	Thymus
38	chr6:144627600-144629600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr6:144627600-144629800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:144627600-144629800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr6:144627600-144629800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr6:144627600-144629800	Weak transcription	NHLF	lung
43	chr6:144627600-144630000	Weak transcription	Left Ventricle	heart
44	chr6:144627600-144630200	Weak transcription	HSMMtube	muscle
45	chr6:144627600-144631600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr6:144627600-144631800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr6:144627600-144631800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr6:144627600-144631800	Weak transcription	Pancreas	Pancrea
49	chr6:144627600-144631800	Weak transcription	Psoas Muscle	Psoas
50	chr6:144627600-144634200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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