Variant report

Variant	rs60269785
Chromosome Location	chr16:47644707-47644708
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	chr16:47617563..47619345-chr16:47643121..47645705,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12719742	1.00[EUR][1000 genomes]
rs12920938	1.00[EUR][1000 genomes]
rs1420669	1.00[EUR][1000 genomes]
rs2098420	1.00[EUR][1000 genomes]
rs2342693	1.00[EUR][1000 genomes]
rs41427947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41438546	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4967849	1.00[EUR][1000 genomes]
rs55915748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56026849	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58917857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61075689	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61351980	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7187698	1.00[EUR][1000 genomes]
rs74016205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74016206	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74016219	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74016220	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8053095	1.00[EUR][1000 genomes]
rs8061702	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795199	chr16:47111119-47732476	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv916572	chr16:47227786-47646103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv933151	chr16:47236330-47646103	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34317	chr16:47390600-47672479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv1794084	chr16:47478207-47676184	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv525976	chr16:47583872-48035026	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47599800-47651200	Weak transcription	A549	lung
2	chr16:47609000-47646600	Weak transcription	NHLF	lung
3	chr16:47609600-47694400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr16:47620400-47653000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr16:47621200-47651600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr16:47625200-47668400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr16:47625600-47645800	Weak transcription	NHEK	skin
8	chr16:47625800-47645800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr16:47625800-47645800	Weak transcription	Psoas Muscle	Psoas
10	chr16:47625800-47646400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr16:47625800-47651400	Weak transcription	Brain Angular Gyrus	brain
12	chr16:47626000-47644800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr16:47626200-47650400	Weak transcription	Osteobl	bone
14	chr16:47626200-47651400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr16:47626200-47676600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr16:47626200-47677600	Weak transcription	Aorta	Aorta
17	chr16:47626400-47647800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr16:47626400-47648200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr16:47626400-47648600	Weak transcription	Colonic Mucosa	Colon
20	chr16:47626400-47649000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr16:47626400-47657200	Weak transcription	Hela-S3	cervix
22	chr16:47626400-47659800	Weak transcription	Fetal Lung	lung
23	chr16:47626400-47670400	Weak transcription	Fetal Intestine Small	intestine
24	chr16:47626600-47644800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr16:47626600-47644800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr16:47626600-47645000	Weak transcription	HUVEC	blood vessel
27	chr16:47626600-47645200	Weak transcription	Thymus	Thymus
28	chr16:47626600-47646000	Weak transcription	HMEC	breast
29	chr16:47626600-47646400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr16:47626600-47646800	Weak transcription	Gastric	stomach
31	chr16:47626600-47647000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr16:47626600-47647000	Weak transcription	NHDF-Ad	bronchial
33	chr16:47626600-47647200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr16:47626600-47647200	Weak transcription	Colon Smooth Muscle	Colon
35	chr16:47626600-47649200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr16:47626600-47651400	Weak transcription	Brain Anterior Caudate	brain
37	chr16:47626600-47651400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr16:47626600-47651600	Weak transcription	Brain Germinal Matrix	brain
39	chr16:47626600-47660800	Weak transcription	Stomach Mucosa	stomach
40	chr16:47626600-47670200	Weak transcription	Spleen	Spleen
41	chr16:47626600-47671000	Weak transcription	Esophagus	oesophagus
42	chr16:47626600-47724600	Weak transcription	Small Intestine	intestine
43	chr16:47626800-47646400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr16:47626800-47646400	Weak transcription	Lung	lung
45	chr16:47626800-47651800	Weak transcription	Placenta	Placenta
46	chr16:47627000-47644800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr16:47627000-47644800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr16:47627000-47651600	Weak transcription	K562	blood
49	chr16:47627000-47685000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr16:47627400-47644800	Weak transcription	Fetal Thymus	thymus

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