Variant report

Variant	rs12599606
Chromosome Location	chr16:81501347-81501348
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81500553..81502385-chr16:81503708..81505589,2	MCF-7	breast:
2	chr16:81501153..81503002-chr16:81601427..81603985,2	K562	blood:
3	chr16:81489735..81495358-chr16:81495824..81502529,7	MCF-7	breast:
4	chr16:81476563..81478400-chr16:81499399..81501663,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12596103	1.00[AMR][1000 genomes]
rs12596605	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12599890	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13333580	1.00[AMR][1000 genomes]
rs16955379	1.00[AMR][1000 genomes]
rs16955417	1.00[AMR][1000 genomes]
rs2306115	1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs28634254	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3803656	1.00[AMR][1000 genomes]
rs60898915	1.00[AMR][1000 genomes];0.93[ASN][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	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	esv34108	chr16:81469090-81510471	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	nsv907010	chr16:81488893-81534790	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81482000-81507000	Weak transcription	Fetal Heart	heart
2	chr16:81485600-81516800	Weak transcription	Hela-S3	cervix
3	chr16:81486400-81501800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr16:81486600-81502600	Weak transcription	Fetal Kidney	kidney
5	chr16:81486600-81525200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr16:81487000-81504400	Weak transcription	Fetal Brain Male	brain
7	chr16:81487000-81507200	Weak transcription	Colon Smooth Muscle	Colon
8	chr16:81490600-81509800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr16:81491600-81503400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr16:81492200-81502000	Weak transcription	Colonic Mucosa	Colon
11	chr16:81492200-81504400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr16:81492200-81504400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr16:81492200-81512200	Genic enhancers	A549	lung
14	chr16:81492400-81503000	Weak transcription	NH-A	brain
15	chr16:81492400-81503400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr16:81492600-81506200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr16:81492800-81504600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr16:81493000-81504400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr16:81494200-81502200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr16:81494200-81503400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr16:81494800-81502000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr16:81495200-81503400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr16:81495400-81502800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr16:81496400-81503200	Weak transcription	HUVEC	blood vessel
25	chr16:81496800-81503400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr16:81496800-81506200	Weak transcription	NHLF	lung
27	chr16:81496800-81514400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr16:81497600-81504000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr16:81497600-81514600	Weak transcription	HSMM	muscle
30	chr16:81497800-81503600	Enhancers	Pancreas	Pancrea
31	chr16:81498000-81501400	Weak transcription	Fetal Stomach	stomach
32	chr16:81498000-81502800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr16:81498000-81506600	Weak transcription	Ovary	ovary
34	chr16:81498400-81502800	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr16:81498800-81502000	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr16:81498800-81503200	Enhancers	Primary T cells from cord blood	blood
37	chr16:81498800-81503200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr16:81498800-81504400	Enhancers	Brain Angular Gyrus	brain
39	chr16:81498800-81504400	Enhancers	Duodenum Mucosa	Duodenum
40	chr16:81499000-81502000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr16:81499000-81503400	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr16:81499000-81503400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr16:81499000-81503600	Enhancers	Primary T cells fromperipheralblood	blood
44	chr16:81499000-81504600	Enhancers	Spleen	Spleen
45	chr16:81499200-81501800	Weak transcription	NHEK	skin
46	chr16:81499200-81502000	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr16:81499200-81502200	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr16:81499200-81504400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr16:81499200-81504600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr16:81499400-81502000	Weak transcription	Esophagus	oesophagus

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