Variant report

Variant	rs3803656
Chromosome Location	chr16:81551506-81551507
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81548752..81553118-chr16:81553470..81556973,6	K562	blood:
2	chr16:81548835..81551828-chr16:81553933..81555713,2	MCF-7	breast:
3	chr16:81549027..81553526-chr16:81553827..81556992,4	MCF-7	breast:
4	chr16:81486409..81487978-chr16:81548913..81551529,2	K562	blood:
5	chr16:81546606..81548288-chr16:81551427..81553768,2	K562	blood:
6	chr16:81550713..81552453-chr16:81584328..81586999,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12596103	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs12596138	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs12596605	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs12599606	1.00[AMR][1000 genomes]
rs12599890	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs13330589	1.00[CEU][hapmap]
rs13333580	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs16955379	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs16955417	1.00[CEU][hapmap];0.80[CHD][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs2306115	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs28634254	1.00[AMR][1000 genomes]
rs60898915	1.00[AMR][1000 genomes]
rs62046503	1.00[AFR][1000 genomes]
rs72829077	1.00[AFR][1000 genomes]
rs72829084	1.00[AFR][1000 genomes]
rs72829086	1.00[AFR][1000 genomes]
rs9928008	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];1.00[EUR][1000 genomes]
rs9932863	1.00[CEU][hapmap];0.80[CHD][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1057791	chr16:81515036-81644651	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv542993	chr16:81515036-81644651	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv457576	chr16:81525637-81579433	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
7	nsv573360	chr16:81525637-81579433	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1062659	chr16:81547280-81668786	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3803656	SDS	trans	brain	seeQTL
rs3803656	SFN	trans	brain	seeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81525400-81554800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr16:81544200-81554400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr16:81545200-81553400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr16:81545400-81553000	Weak transcription	Hela-S3	cervix
5	chr16:81547400-81554000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr16:81547400-81571600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr16:81547600-81551600	Enhancers	Adipose Nuclei	Adipose
8	chr16:81547600-81554200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr16:81547600-81554400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:81547600-81560000	Weak transcription	Colon Smooth Muscle	Colon
11	chr16:81547600-81564400	Weak transcription	Fetal Kidney	kidney
12	chr16:81547800-81553000	Weak transcription	Brain Anterior Caudate	brain
13	chr16:81547800-81553000	Genic enhancers	A549	lung
14	chr16:81547800-81557200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr16:81547800-81571600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr16:81548000-81552800	Weak transcription	Brain Hippocampus Middle	brain
17	chr16:81548000-81553000	Weak transcription	Brain Substantia Nigra	brain
18	chr16:81548000-81553200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr16:81548000-81553800	Strong transcription	Primary T cells from cord blood	blood
20	chr16:81548000-81564200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr16:81548000-81564200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr16:81548200-81551800	Weak transcription	HSMMtube	muscle
23	chr16:81548200-81554400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr16:81548200-81559600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr16:81548200-81560000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr16:81548200-81560600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr16:81548400-81553000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr16:81548400-81553000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr16:81548400-81553600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr16:81548600-81551800	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr16:81548600-81551800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr16:81548600-81552800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr16:81548600-81553000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr16:81548600-81553200	Weak transcription	Gastric	stomach
35	chr16:81548800-81552800	Weak transcription	Stomach Mucosa	stomach
36	chr16:81548800-81553000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr16:81548800-81553200	Weak transcription	Colonic Mucosa	Colon
38	chr16:81548800-81555600	Weak transcription	Small Intestine	intestine
39	chr16:81548800-81558000	Strong transcription	Fetal Stomach	stomach
40	chr16:81548800-81560400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr16:81548800-81567400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr16:81549000-81553000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr16:81549000-81553600	Weak transcription	Fetal Brain Male	brain
44	chr16:81549000-81555200	Weak transcription	Fetal Heart	heart
45	chr16:81549200-81553000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr16:81549400-81551600	Strong transcription	HepG2	liver
47	chr16:81549400-81551800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr16:81549400-81551800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr16:81549400-81552200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr16:81549400-81553000	Weak transcription	Liver	Liver

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