Variant report

Variant	rs4341758
Chromosome Location	chr16:30394279-30394280
allele	A/G
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	MTA3	chr16:30392648-30394365	GM12878	blood:	n/a	n/a
2	POLR2A	chr16:30392744-30394358	Raji	blood:	n/a	n/a
3	ATF2	chr16:30393699-30394294	GM12878	blood:	n/a	n/a
4	RUNX3	chr16:30393287-30394313	GM12878	blood:	n/a	n/a
5	POLR2A	chr16:30393332-30394305	GM12878	blood:	n/a	n/a
6	POLR2A	chr16:30394135-30394825	K562	blood:	n/a	n/a
7	CEBPB	chr16:30393553-30394323	GM12878	blood:	n/a	n/a
8	STAT5A	chr16:30393672-30394306	GM12878	blood:	n/a	n/a
9	PBX3	chr16:30393847-30394413	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr16:30392904-30394353	GM12892	blood:	n/a	n/a
11	SPI1	chr16:30393673-30394294	GM12878	blood:	n/a	chr16:30394139-30394152 chr16:30393879-30393892 chr16:30393888-30393895 chr16:30394139-30394146
12	POLR2A	chr16:30393531-30394363	GM12892	blood:	n/a	n/a
13	SPI1	chr16:30393707-30394367	GM12891	blood:	n/a	chr16:30394139-30394152 chr16:30393879-30393892 chr16:30393888-30393895 chr16:30394139-30394146
14	SPI1	chr16:30393388-30394446	GM12878	blood:	n/a	chr16:30394139-30394152 chr16:30393879-30393892 chr16:30393888-30393895 chr16:30394139-30394146
15	PML	chr16:30393257-30394419	GM12878	blood:	n/a	n/a
16	POLR2A	chr16:30393612-30394298	GM12892	blood:	n/a	n/a
17	RUNX3	chr16:30393399-30394312	GM12878	blood:	n/a	n/a
18	NFIC	chr16:30393687-30394335	GM12878	blood:	n/a	n/a
19	POLR2A	chr16:30394003-30394409	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr16:30393435-30394582	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr16:30393897-30394542	PFSK-1	brain:	n/a	n/a
22	SPI1	chr16:30393694-30394281	GM12891	blood:	n/a	chr16:30394139-30394152 chr16:30393879-30393892 chr16:30393888-30393895 chr16:30394139-30394146
23	POLR2A	chr16:30393951-30394312	MCF-7	breast:	n/a	n/a
24	POLR2A	chr16:30393503-30394352	GM12878	blood:	n/a	n/a
25	POLR2A	chr16:30394279-30394282	ProgFib	skin:	n/a	n/a
26	POLR2A	chr16:30393433-30394708	HepG2	liver:	n/a	n/a
27	MTA3	chr16:30393395-30394309	GM12878	blood:	n/a	n/a
28	POLR2A	chr16:30392819-30394313	GM12878	blood:	n/a	n/a
29	POLR2A	chr16:30394077-30394498	HUVEC	blood vessel:	n/a	n/a
30	SPI1	chr16:30393680-30394360	HL-60	blood:	n/a	chr16:30394139-30394152 chr16:30393879-30393892 chr16:30393888-30393895 chr16:30394139-30394146

No.	Distal block	Cell Line	Cell type
1	chr16:30389715..30395001-chr16:30417296..30421020,7	K562	blood:
2	chr16:30386182..30395144-chr16:30402818..30414477,44	MCF-7	breast:
3	chr16:30387676..30396507-chr16:30404234..30411930,28	K562	blood:
4	chr16:30393486..30397071-chr16:30402673..30407150,6	MCF-7	breast:
5	chr16:30364024..30368341-chr16:30387690..30394486,12	K562	blood:
6	chr16:30384243..30394929-chr16:30405602..30409736,14	K562	blood:
7	chr16:30365775..30369229-chr16:30392373..30394486,5	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TBC1D10B-1	chr16:30394073-30394335	NONHSAT141744
2	lnc-TBC1D10B-1	chr16:30394143-30394335	NONHSAT141745

Variant related genes	Relation type
ENSG00000270466	TF binding region
SEPT1	TF binding region
ENSG00000260219	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000179965	Chromatin interaction
ENSG00000180096	Chromatin interaction
ENSG00000169217	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13330462	1.00[ASN][1000 genomes]
rs13335932	1.00[ASN][1000 genomes]
rs28404428	1.00[ASN][1000 genomes]
rs4072354	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73532587	1.00[ASN][1000 genomes]
rs9926426	1.00[ASN][1000 genomes]
rs9926923	1.00[ASN][1000 genomes]
rs9928218	1.00[ASN][1000 genomes]
rs9936065	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv905725	chr16:30376959-30420851	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
8	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
9	nsv1782	chr16:30391812-30410266	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30390800-30395200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr16:30390800-30405600	Weak transcription	Right Atrium	heart
3	chr16:30391000-30395000	Weak transcription	Fetal Lung	lung
4	chr16:30391000-30405000	Weak transcription	NHLF	lung
5	chr16:30391000-30405200	Weak transcription	Fetal Brain Female	brain
6	chr16:30391000-30405400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr16:30391400-30396800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr16:30392000-30394400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
9	chr16:30392000-30395800	Enhancers	Fetal Muscle Trunk	muscle
10	chr16:30392200-30394600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr16:30392200-30394600	Flanking Active TSS	GM12878-XiMat	blood
12	chr16:30392200-30395000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr16:30392200-30395600	Enhancers	Fetal Muscle Leg	muscle
14	chr16:30392400-30394400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr16:30392400-30394600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr16:30392400-30394800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr16:30392400-30397800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr16:30392600-30394400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr16:30392600-30395200	Flanking Active TSS	Dnd41	blood
20	chr16:30392800-30394400	Enhancers	Primary hematopoietic stem cells	blood
21	chr16:30393000-30394400	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr16:30393000-30394600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr16:30393000-30394600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr16:30393000-30394800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr16:30393200-30394400	Flanking Active TSS	Primary B cells from peripheral blood	blood
26	chr16:30393200-30394400	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr16:30393200-30394600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr16:30393200-30394800	Weak transcription	Fetal Stomach	stomach
29	chr16:30393400-30394400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr16:30393400-30394400	Flanking Active TSS	Fetal Thymus	thymus
31	chr16:30393600-30394400	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr16:30393600-30394400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr16:30394000-30394400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr16:30394000-30394400	Enhancers	Colonic Mucosa	Colon
35	chr16:30394000-30394400	Flanking Active TSS	Thymus	Thymus
36	chr16:30394000-30394600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr16:30394000-30395000	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr16:30394200-30394400	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr16:30394200-30394400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr16:30394200-30394400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr16:30394200-30394400	Active TSS	Duodenum Mucosa	Duodenum
42	chr16:30394200-30395200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr16:30394200-30395400	Enhancers	Stomach Smooth Muscle	stomach
44	chr16:30394200-30395800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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