Variant report

Variant	rs4232893
Chromosome Location	chr16:30423751-30423752
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:30101497..30103745-chr16:30423358..30424881,2	K562	blood:
2	chr16:30417017..30420498-chr16:30421320..30424388,3	MCF-7	breast:
3	chr16:30365041..30367245-chr16:30423738..30426324,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000179965	Chromatin interaction
ENSG00000169217	Chromatin interaction
ENSG00000260219	Chromatin interaction
ENSG00000149922	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4072354	0.85[YRI][hapmap]
rs4787644	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.89[TSI][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9936065	0.82[YRI][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	nsv1065915	chr16:29967090-30486120	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
2	nsv542897	chr16:29967090-30486120	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
3	nsv1056897	chr16:30363683-30457504	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	88 gene(s)	inside rSNPs	diseases
4	nsv905724	chr16:30368591-30438930	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
5	nsv532531	chr16:30370550-30581820	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
6	nsv827612	chr16:30371538-30429862	Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
7	nsv962197	chr16:30390489-30425618	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4232893	FBXL19	cis	parietal	SCAN
rs4232893	MAPK3	cis	parietal	SCAN
rs4232893	SLC5A2	cis	cerebellum	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30419200-30428800	Weak transcription	Small Intestine	intestine
2	chr16:30419600-30428600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr16:30419800-30425200	Weak transcription	Psoas Muscle	Psoas
4	chr16:30419800-30425200	Weak transcription	Right Atrium	heart
5	chr16:30419800-30425600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr16:30419800-30428600	Weak transcription	Esophagus	oesophagus
7	chr16:30419800-30428800	Weak transcription	Gastric	stomach
8	chr16:30420000-30428800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr16:30420800-30425800	Strong transcription	Fetal Intestine Small	intestine
10	chr16:30421000-30424800	Weak transcription	Thymus	Thymus
11	chr16:30421000-30426000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr16:30421000-30426000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr16:30421000-30426000	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr16:30421000-30427000	Weak transcription	GM12878-XiMat	blood
15	chr16:30421000-30428200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr16:30421000-30428400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr16:30421200-30425200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr16:30421200-30425800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr16:30421200-30426000	Strong transcription	Fetal Muscle Trunk	muscle
20	chr16:30421200-30428200	Weak transcription	Primary B cells from cord blood	blood
21	chr16:30421200-30428200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr16:30421200-30428200	Weak transcription	Fetal Brain Male	brain
23	chr16:30421200-30428200	Weak transcription	Placenta	Placenta
24	chr16:30421200-30428200	Weak transcription	Spleen	Spleen
25	chr16:30421200-30428200	Weak transcription	NHDF-Ad	bronchial
26	chr16:30421200-30428400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr16:30421200-30428400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr16:30421200-30428400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr16:30421200-30428600	Weak transcription	Colonic Mucosa	Colon
30	chr16:30421200-30437600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr16:30421200-30437600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr16:30421400-30423800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr16:30421400-30424200	Genic enhancers	Dnd41	blood
34	chr16:30421400-30425000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr16:30421400-30425000	Weak transcription	Pancreas	Pancrea
36	chr16:30421400-30425000	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr16:30421400-30425200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr16:30421400-30425200	Weak transcription	HSMM	muscle
39	chr16:30421400-30425400	Weak transcription	Fetal Heart	heart
40	chr16:30421400-30425800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr16:30421400-30425800	Strong transcription	A549	lung
42	chr16:30421400-30426000	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr16:30421400-30426000	Strong transcription	K562	blood
44	chr16:30421400-30426000	Strong transcription	Osteobl	bone
45	chr16:30421400-30428200	Weak transcription	Primary B cells from peripheral blood	blood
46	chr16:30421400-30428200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr16:30421400-30428200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr16:30421400-30428200	Weak transcription	Colon Smooth Muscle	Colon
49	chr16:30421400-30428200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr16:30421400-30428400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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