Variant report

Variant	rs13331194
Chromosome Location	chr16:47294425-47294426
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	chr16:47257065..47259254-chr16:47293834..47296356,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12102280	1.00[AFR][1000 genomes]
rs12103136	1.00[AFR][1000 genomes]
rs13329876	1.00[AFR][1000 genomes]
rs13332687	1.00[AFR][1000 genomes]
rs13334553	1.00[AFR][1000 genomes]
rs13337909	1.00[AFR][1000 genomes]
rs13338192	1.00[AFR][1000 genomes]
rs13339329	1.00[AFR][1000 genomes]
rs28404995	1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs28430442	1.00[AFR][1000 genomes]
rs28432840	1.00[AFR][1000 genomes]
rs28441575	1.00[AFR][1000 genomes]
rs28709022	1.00[AFR][1000 genomes]
rs28768157	1.00[AFR][1000 genomes]
rs28811125	1.00[AFR][1000 genomes]
rs28868367	0.87[AFR][1000 genomes]
rs34514482	1.00[AFR][1000 genomes]
rs9921607	0.87[AFR][1000 genomes]
rs9922236	1.00[AFR][1000 genomes]
rs9922954	1.00[AFR][1000 genomes]
rs9924420	1.00[AFR][1000 genomes]
rs9925483	1.00[AFR][1000 genomes]
rs9930629	1.00[AFR][1000 genomes]
rs9932666	1.00[AFR][1000 genomes]
rs9933580	0.87[AFR][1000 genomes]
rs9934103	1.00[AFR][1000 genomes]
rs9935939	1.00[AFR][1000 genomes]
rs9936017	1.00[AFR][1000 genomes]
rs9938457	1.00[AFR][1000 genomes]
rs9939423	1.00[AFR][1000 genomes]
rs9940019	1.00[AFR][1000 genomes]
rs9940262	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	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
4	esv1803802	chr16:47115776-47367144	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv906660	chr16:47123724-47347780	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1059763	chr16:47147194-47373834	ZNF genes & repeats Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv528423	chr16:47163874-47347780	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	esv1821100	chr16:47171333-47330244	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv525170	chr16:47194051-47303635	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv1821089	chr16:47223418-47330244	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	esv1832105	chr16:47223418-47347780	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	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
13	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
14	esv2757637	chr16:47261512-47595005	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS 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
15	esv2758644	chr16:47261512-47606287	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
16	nsv1060396	chr16:47264261-47469345	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47178800-47296600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:47230000-47332600	Weak transcription	Thymus	Thymus
3	chr16:47231800-47298600	Weak transcription	Right Ventricle	heart
4	chr16:47246800-47298600	Weak transcription	Brain Angular Gyrus	brain
5	chr16:47247200-47299000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr16:47250400-47296600	Weak transcription	Lung	lung
7	chr16:47253400-47294800	Weak transcription	Psoas Muscle	Psoas
8	chr16:47258600-47298400	Weak transcription	Fetal Intestine Small	intestine
9	chr16:47259800-47298200	Weak transcription	Colonic Mucosa	Colon
10	chr16:47262400-47296600	Weak transcription	Gastric	stomach
11	chr16:47263600-47297200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr16:47264200-47321000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr16:47264600-47296600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr16:47264600-47296600	Weak transcription	Aorta	Aorta
15	chr16:47264600-47296600	Weak transcription	Spleen	Spleen
16	chr16:47266000-47298800	Weak transcription	Brain Anterior Caudate	brain
17	chr16:47269400-47298400	Weak transcription	NHEK	skin
18	chr16:47276400-47297200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr16:47281600-47296400	Weak transcription	Brain Substantia Nigra	brain
20	chr16:47282200-47321000	Weak transcription	Brain Hippocampus Middle	brain
21	chr16:47282400-47305000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr16:47282800-47295800	Weak transcription	NH-A	brain
23	chr16:47285200-47297200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:47285200-47305000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr16:47285400-47296600	Weak transcription	Fetal Stomach	stomach
26	chr16:47286400-47295000	Strong transcription	Primary T cells from cord blood	blood
27	chr16:47286600-47298000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr16:47286800-47299000	Weak transcription	Fetal Lung	lung
29	chr16:47287200-47298000	Weak transcription	Fetal Brain Female	brain
30	chr16:47287600-47295800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr16:47287600-47298400	Weak transcription	A549	lung
32	chr16:47288200-47297800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr16:47289200-47320600	Weak transcription	Small Intestine	intestine
34	chr16:47289600-47298400	Weak transcription	Fetal Brain Male	brain
35	chr16:47289800-47296400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr16:47290000-47295200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr16:47290400-47295800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr16:47290600-47296600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr16:47290600-47298800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr16:47291200-47294800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr16:47291800-47305800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr16:47291800-47306200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr16:47292200-47295800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr16:47292200-47296000	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr16:47292200-47296600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr16:47292200-47298400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr16:47292200-47298400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr16:47292200-47298800	Weak transcription	Osteobl	bone
49	chr16:47292200-47302800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr16:47292200-47317400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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