Variant report

Variant	rs12596605
Chromosome Location	chr16:81504161-81504162
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81502365..81504791-chr16:81811321..81813304,2	K562	blood:
2	chr16:81500553..81502385-chr16:81503708..81505589,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197943	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12596103	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs12596138	1.00[CEU][hapmap];0.89[CHB][hapmap]
rs12599606	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12599890	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13330589	1.00[CEU][hapmap]
rs13333580	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[AMR][1000 genomes]
rs16955379	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[AMR][1000 genomes]
rs16955417	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[AMR][1000 genomes]
rs2306115	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28634254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3803656	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs60898915	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9928008	1.00[CEU][hapmap]
rs9930117	0.81[CHB][hapmap]
rs9932863	1.00[CEU][hapmap]

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	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
6	esv3401957	chr16:81502651-81507149	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3419798	chr16:81503451-81507349	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 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	chr16:81486600-81525200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr16:81487000-81504400	Weak transcription	Fetal Brain Male	brain
5	chr16:81487000-81507200	Weak transcription	Colon Smooth Muscle	Colon
6	chr16:81490600-81509800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr16:81492200-81504400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr16:81492200-81504400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr16:81492200-81512200	Genic enhancers	A549	lung
10	chr16:81492600-81506200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr16:81492800-81504600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr16:81493000-81504400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr16:81496800-81506200	Weak transcription	NHLF	lung
14	chr16:81496800-81514400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr16:81497600-81514600	Weak transcription	HSMM	muscle
16	chr16:81498000-81506600	Weak transcription	Ovary	ovary
17	chr16:81498800-81504400	Enhancers	Brain Angular Gyrus	brain
18	chr16:81498800-81504400	Enhancers	Duodenum Mucosa	Duodenum
19	chr16:81499000-81504600	Enhancers	Spleen	Spleen
20	chr16:81499200-81504400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr16:81499200-81504600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr16:81500000-81505000	Enhancers	Fetal Thymus	thymus
23	chr16:81500400-81506200	Weak transcription	NHDF-Ad	bronchial
24	chr16:81500400-81506800	Weak transcription	Osteobl	bone
25	chr16:81500600-81504400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr16:81500600-81504400	Enhancers	Primary hematopoietic stem cells	blood
27	chr16:81500600-81504400	Weak transcription	Fetal Lung	lung
28	chr16:81500600-81504600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr16:81500600-81504600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr16:81500600-81504600	Weak transcription	HMEC	breast
31	chr16:81500800-81504600	Weak transcription	Fetal Brain Female	brain
32	chr16:81500800-81506600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr16:81500800-81506600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr16:81501000-81504600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr16:81501000-81504600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr16:81501000-81506000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr16:81501000-81506400	Weak transcription	Right Ventricle	heart
38	chr16:81501000-81506600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr16:81501400-81506600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr16:81501600-81504200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr16:81501800-81504400	Enhancers	Fetal Muscle Trunk	muscle
42	chr16:81501800-81504600	Enhancers	Liver	Liver
43	chr16:81501800-81504600	Enhancers	Brain Hippocampus Middle	brain
44	chr16:81501800-81506400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr16:81501800-81514400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr16:81501800-81515200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr16:81502000-81504200	Enhancers	Right Atrium	heart
48	chr16:81502000-81504600	Enhancers	Adipose Nuclei	Adipose
49	chr16:81502000-81504600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr16:81502000-81504600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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