Variant report

Variant	rs4404083
Chromosome Location	chr16:31136085-31136086
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:31135539-31136094	K562	blood:	n/a	n/a
2	POLR2A	chr16:31133712-31138654	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:31135780-31136705	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:31135331..31138957-chr16:31191389..31193517,3	K562	blood:
2	chr16:31125394..31127010-chr16:31134629..31136872,2	K562	blood:
3	chr16:31135331..31138307-chr16:31191290..31193517,3	K562	blood:
4	chr16:31135542..31139152-chr16:31197024..31199898,3	K562	blood:

Variant related genes	Relation type
KAT8	TF binding region
ENSG00000089280	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11645814	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11649030	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17855606	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17880887	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs45619735	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56388508	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56404782	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72785546	0.84[EUR][1000 genomes]
rs72785547	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72785553	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
4	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
5	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
6	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
7	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
8	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
9	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription 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 miRNA target site	114 gene(s)	inside rSNPs	diseases
10	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
11	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription 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	202 gene(s)	inside rSNPs	diseases
12	nsv905742	chr16:31102321-31247924	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	188 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4404083	HSD3B7	cis	Whole Blood	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31130200-31136600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr16:31130400-31137200	Weak transcription	Stomach Mucosa	stomach
3	chr16:31130400-31139000	Strong transcription	Fetal Thymus	thymus
4	chr16:31130400-31139800	Strong transcription	Fetal Muscle Trunk	muscle
5	chr16:31130400-31140400	Strong transcription	Stomach Smooth Muscle	stomach
6	chr16:31130400-31145000	Strong transcription	Fetal Brain Female	brain
7	chr16:31130400-31153000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr16:31130600-31136200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr16:31130600-31136400	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr16:31130600-31136600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr16:31130600-31136600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr16:31130600-31136800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr16:31130600-31136800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr16:31130600-31138600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr16:31130600-31138600	Strong transcription	Fetal Intestine Small	intestine
16	chr16:31130600-31138800	Strong transcription	Fetal Intestine Large	intestine
17	chr16:31130600-31139000	Strong transcription	Fetal Muscle Leg	muscle
18	chr16:31130600-31139600	Strong transcription	Adipose Nuclei	Adipose
19	chr16:31130600-31140600	Weak transcription	Right Atrium	heart
20	chr16:31130600-31144400	Strong transcription	Primary B cells from peripheral blood	blood
21	chr16:31130600-31144800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr16:31130600-31144800	Strong transcription	Thymus	Thymus
23	chr16:31130600-31145000	Weak transcription	Fetal Heart	heart
24	chr16:31130600-31145200	Strong transcription	Fetal Stomach	stomach
25	chr16:31130800-31139400	Strong transcription	Primary T cells from cord blood	blood
26	chr16:31130800-31143800	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr16:31130800-31144200	Strong transcription	Liver	Liver
28	chr16:31130800-31145000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr16:31131000-31136400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr16:31131200-31140600	Weak transcription	Psoas Muscle	Psoas
31	chr16:31131400-31136400	Strong transcription	Ovary	ovary
32	chr16:31131400-31138800	Strong transcription	Brain Cingulate Gyrus	brain
33	chr16:31131400-31138800	Strong transcription	Duodenum Mucosa	Duodenum
34	chr16:31132000-31136600	Strong transcription	Left Ventricle	heart
35	chr16:31132000-31139000	Strong transcription	Placenta	Placenta
36	chr16:31132200-31138400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr16:31132200-31138800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr16:31132200-31138800	Weak transcription	Small Intestine	intestine
39	chr16:31132400-31137000	Weak transcription	Esophagus	oesophagus
40	chr16:31132400-31138600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr16:31132400-31145800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr16:31132400-31146000	Weak transcription	Hela-S3	cervix
43	chr16:31132800-31138200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr16:31133000-31137000	Weak transcription	Brain Angular Gyrus	brain
45	chr16:31133000-31137800	Weak transcription	Pancreas	Pancrea
46	chr16:31133000-31140600	Weak transcription	HSMMtube	muscle
47	chr16:31133200-31138200	Weak transcription	Aorta	Aorta
48	chr16:31133400-31137800	Weak transcription	NHLF	lung
49	chr16:31133800-31137000	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr16:31133800-31137200	Weak transcription	Colonic Mucosa	Colon

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