Variant report

Variant	rs4246381
Chromosome Location	chr16:46939132-46939133
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:46937070..46939899-chr16:46944886..46947118,2	K562	blood:
2	chr16:46936280..46939899-chr16:46944603..46947118,3	K562	blood:
3	chr16:46932297..46935211-chr16:46938670..46940478,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1009391	0.85[CEU][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11860484	0.92[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11861896	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12934580	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12935606	0.92[EUR][1000 genomes]
rs1641122	1.00[ASN][1000 genomes]
rs1869006	0.85[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2192644	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341043	1.00[ASN][1000 genomes]
rs4966706	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4966708	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4966710	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4966713	0.85[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4967576	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4967602	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4967621	0.92[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56006015	0.92[EUR][1000 genomes]
rs56042735	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56354199	0.90[EUR][1000 genomes]
rs57127559	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57942848	1.00[ASN][1000 genomes]
rs58074838	0.88[EUR][1000 genomes]
rs59708508	0.80[EUR][1000 genomes]
rs62057633	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6598777	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67211229	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67369452	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68162608	1.00[ASN][1000 genomes]
rs7186748	0.92[EUR][1000 genomes]
rs7192574	0.87[EUR][1000 genomes]
rs7196375	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7197485	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72812428	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8044443	1.00[ASN][1000 genomes]
rs8053137	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8053297	1.00[ASN][1000 genomes]
rs8058734	1.00[ASN][1000 genomes]
rs808432	1.00[ASN][1000 genomes]
rs9328668	0.85[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9889198	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1066048	chr16:46500740-46998694	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv542908	chr16:46500740-46998694	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv1059147	chr16:46500740-47010960	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers 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	54 gene(s)	inside rSNPs	diseases
6	nsv542909	chr16:46500740-47010960	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	esv3519767	chr16:46873184-46960035	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv3519768	chr16:46873184-46960035	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Strong transcription 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	8 gene(s)	inside rSNPs	diseases
9	esv1831215	chr16:46907546-46962858	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv1799095	chr16:46916670-46972671	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1063660	chr16:46930623-46978792	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4246381	LOC388272	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46919000-46945400	Weak transcription	Aorta	Aorta
2	chr16:46919000-46963400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:46920200-46944800	Weak transcription	Hela-S3	cervix
4	chr16:46920800-46940600	Weak transcription	HMEC	breast
5	chr16:46920800-46949000	Weak transcription	A549	lung
6	chr16:46921000-46944400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:46921800-46941600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr16:46924200-46941200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr16:46928400-46942400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr16:46928400-46966000	Strong transcription	Fetal Brain Female	brain
11	chr16:46929000-46949200	Weak transcription	Fetal Brain Male	brain
12	chr16:46929200-46949200	Weak transcription	K562	blood
13	chr16:46929400-46965200	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr16:46929800-46941200	Strong transcription	Brain Germinal Matrix	brain
15	chr16:46930200-46940800	Weak transcription	Fetal Intestine Large	intestine
16	chr16:46930600-46956200	Weak transcription	Fetal Intestine Small	intestine
17	chr16:46930800-46941800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr16:46930800-46965400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr16:46930800-46968400	Weak transcription	Right Atrium	heart
20	chr16:46931000-46939800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr16:46931000-46946800	Weak transcription	Fetal Lung	lung
22	chr16:46931000-46949000	Weak transcription	Fetal Kidney	kidney
23	chr16:46931000-46951200	Strong transcription	Liver	Liver
24	chr16:46931200-46941600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr16:46931200-46942200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr16:46931200-46952400	Weak transcription	Ovary	ovary
27	chr16:46931400-46940800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr16:46931400-46941400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr16:46931600-46941000	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr16:46931600-46957800	Strong transcription	Fetal Stomach	stomach
31	chr16:46931600-46965200	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr16:46932200-46956200	Weak transcription	Left Ventricle	heart
33	chr16:46932200-46965200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr16:46932400-46957600	Weak transcription	Psoas Muscle	Psoas
35	chr16:46933000-46941400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr16:46933600-46943400	Weak transcription	NHLF	lung
37	chr16:46933600-46949200	Weak transcription	HSMM	muscle
38	chr16:46933600-46959800	Weak transcription	HUVEC	blood vessel
39	chr16:46933600-46965400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr16:46933800-46943200	Weak transcription	Osteobl	bone
41	chr16:46933800-46946600	Weak transcription	NH-A	brain
42	chr16:46933800-46965800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr16:46934000-46940400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr16:46934000-46946800	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr16:46934000-46963400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr16:46934600-46941000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr16:46934600-46941400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr16:46934800-46942400	Strong transcription	HepG2	liver
49	chr16:46935000-46945800	Weak transcription	Right Ventricle	heart
50	chr16:46935200-46940000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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