Variant report

Variant	rs72785547
Chromosome Location	chr16:31119554-31119555
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	POLR2A	chr16:31119396-31119964	K562	blood:	n/a	n/a
2	REST	chr16:31119309-31119851	A549	lung:	n/a	chr16:31119635-31119648
3	TBP	chr16:31119434-31119919	K562	blood:	n/a	n/a
4	POLR2A	chr16:31119503-31120294	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr16:31119460-31119984	Gliobla	brain:	n/a	n/a
6	PAX5	chr16:31119423-31119817	GM12878	blood:	n/a	chr16:31119629-31119638
7	USF2	chr16:31119523-31119887	GM12878	blood:	n/a	chr16:31119680-31119696 chr16:31119723-31119739
8	ZC3H11A	chr16:31119410-31119653	K562	blood:	n/a	n/a
9	POLR2A	chr16:31119486-31120053	MCF-7	breast:	n/a	n/a
10	TAF1	chr16:31119385-31120098	HepG2	liver:	n/a	n/a
11	NFIC	chr16:31119412-31119845	ECC-1	luminal epithelium:	n/a	n/a
12	CHD2	chr16:31119472-31119883	HepG2	liver:	n/a	n/a
13	POLR2A	chr16:31119514-31119997	H1-neurons	neurons:	n/a	n/a
14	TCF12	chr16:31119297-31119965	ECC-1	luminal epithelium:	n/a	n/a
15	PAX5	chr16:31119349-31119914	GM12878	blood:	n/a	chr16:31119629-31119638 chr16:31119871-31119880 chr16:31119873-31119882
16	IRF1	chr16:31119392-31119908	K562	blood:	n/a	chr16:31119611-31119625
17	GABPA	chr16:31119476-31119799	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr16:31119406-31119939	SK-N-MC	brain:	n/a	n/a
19	CREB1	chr16:31119402-31120070	HepG2	liver:	n/a	n/a
20	ZBTB7A	chr16:31119453-31120414	ECC-1	luminal epithelium:	n/a	chr16:31119683-31119692
21	POLR2A	chr16:31119396-31119946	K562	blood:	n/a	n/a
22	CEBPD	chr16:31119323-31119942	HepG2	liver:	n/a	n/a
23	SIX5	chr16:31119440-31119866	GM12878	blood:	n/a	chr16:31119662-31119676 chr16:31119666-31119675 chr16:31119664-31119673
24	CHD2	chr16:31119498-31119848	K562	blood:	n/a	n/a
25	SIX5	chr16:31119440-31119904	A549	lung:	n/a	chr16:31119662-31119676 chr16:31119666-31119675 chr16:31119664-31119673
26	YY1	chr16:31119497-31119918	ECC-1	luminal epithelium:	n/a	chr16:31119681-31119695 chr16:31119881-31119895 chr16:31119716-31119730
27	POLR2A	chr16:31119265-31120076	HUVEC	blood vessel:	n/a	n/a
28	HA-E2F1	chr16:31119319-31120117	MCF-7	breast:	n/a	chr16:31120070-31120079
29	POLR2A	chr16:31119459-31120346	MCF-7	breast:	n/a	n/a
30	MAZ	chr16:31119492-31119780	HepG2	liver:	n/a	chr16:31119695-31119704
31	POLR2A	chr16:31119375-31120004	GM19099	blood:	n/a	n/a
32	POLR2A	chr16:31119426-31120019	HepG2	liver:	n/a	n/a
33	TAF1	chr16:31119430-31119950	HepG2	liver:	n/a	n/a
34	RFX5	chr16:31119522-31119893	Hela-S3	cervix:	n/a	n/a
35	FOXP2	chr16:31119443-31119838	SK-N-MC	brain:	n/a	n/a
36	ELF1	chr16:31119400-31119933	MCF-7	breast:	n/a	chr16:31119689-31119698 chr16:31119716-31119728
37	SIN3AK20	chr16:31119513-31119882	K562	blood:	n/a	n/a
38	FOXP2	chr16:31119471-31119856	PFSK-1	brain:	n/a	n/a
39	GTF2F1	chr16:31119484-31119679	K562	blood:	n/a	n/a
40	SIX5	chr16:31119469-31119777	H1-hESC	embryonic stem cell:	n/a	chr16:31119662-31119676 chr16:31119666-31119675 chr16:31119664-31119673
41	POLR2A	chr16:31119398-31120038	HUVEC	blood vessel:	n/a	n/a
42	POLR2A	chr16:31119393-31119983	HCT-116	colon:	n/a	n/a
43	EGR1	chr16:31119496-31119922	K562	blood:	n/a	chr16:31119629-31119638 chr16:31119663-31119687 chr16:31119694-31119704 chr16:31119692-31119706 chr16:31119694-31119703 chr16:31119694-31119704 chr16:31119688-31119710 chr16:31119694-31119705 chr16:31119690-31119704 chr16:31119693-31119706 chr16:31119693-31119706 chr16:31119708-31119722 chr16:31119694-31119705 chr16:31119693-31119706 chr16:31119871-31119880 chr16:31119693-31119706
44	RCOR1	chr16:31119059-31120050	GM12878	blood:	n/a	n/a
45	MAX	chr16:31119478-31119868	Hela-S3	cervix:	n/a	chr16:31119695-31119704
46	CREB1	chr16:31119481-31119849	A549	lung:	n/a	n/a
47	POLR2A	chr16:31119429-31120072	GM12878	blood:	n/a	n/a
48	PML	chr16:31119486-31119860	GM12878	blood:	n/a	n/a
49	POLR2A	chr16:31119436-31120182	Hela-S3	cervix:	n/a	n/a
50	GABPA	chr16:31119482-31119936	HepG2	liver:	n/a	chr16:31119867-31119881

No.	Distal block	Cell Line	Cell type
1	chr16:31103434..31106492-chr16:31118402..31121759,4	K562	blood:
2	chr16:31118360..31121203-chr16:31189734..31192940,3	K562	blood:
3	chr16:31117975..31125175-chr16:31188698..31192934,10	MCF-7	breast:
4	chr16:31084383..31087189-chr16:31118914..31120512,2	MCF-7	breast:
5	chr16:31005971..31009224-chr16:31118025..31120468,3	K562	blood:
6	chr16:30996951..30999220-chr16:31117485..31119615,2	K562	blood:
7	chr16:31043215..31044919-chr16:31118800..31122188,4	K562	blood:
8	chr16:31118660..31120523-chr16:31190662..31192940,2	MCF-7	breast:
9	chr16:31104528..31108651-chr16:31117626..31121071,4	MCF-7	breast:
10	chr16:31119478..31120012-chr7:2594669..2595420,2	NB4	blood:
11	chr16:31117662..31120413-chr16:31270812..31272683,2	MCF-7	breast:
12	chr16:31118165..31121962-chr16:31151611..31155077,5	K562	blood:
13	chr16:31118693..31121313-chr16:31341607..31344535,2	MCF-7	breast:
14	chr16:31118494..31122515-chr16:31143591..31148259,6	MCF-7	breast:
15	chr16:30966729..30970735-chr16:31118988..31121519,3	MCF-7	breast:
16	chr16:31083571..31086239-chr16:31118530..31123064,5	MCF-7	breast:
17	chr16:31117883..31120430-chr16:31468936..31471435,2	MCF-7	breast:
18	chr16:31084212..31086382-chr16:31118397..31120313,2	K562	blood:
19	chr16:31117742..31119780-chr16:31197007..31199693,2	MCF-7	breast:
20	chr16:31117735..31121210-chr16:31190065..31193528,11	K562	blood:

Variant related genes	Relation type
BCKDK	TF binding region
ENSG00000252809	TF binding region
ENSG00000167394	Chromatin interaction
ENSG00000169896	Chromatin interaction
ENSG00000268863	Chromatin interaction
ENSG00000099365	Chromatin interaction
ENSG00000260267	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000052344	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000178226	Chromatin interaction
ENSG00000255439	Chromatin interaction
ENSG00000103496	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000106009	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000167397	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11645814	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11649030	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17855606	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17880887	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4404083	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs45619735	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56388508	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56404782	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72785546	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72785553	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv833193	chr16:30960796-31133604	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription 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	109 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	nsv905743	chr16:31111064-31129942	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31118800-31119600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr16:31118800-31119600	Flanking Active TSS	Dnd41	blood
3	chr16:31118800-31119600	Flanking Active TSS	GM12878-XiMat	blood
4	chr16:31118800-31120000	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr16:31119000-31119600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:31119000-31119600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
7	chr16:31119000-31119600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
8	chr16:31119000-31119600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr16:31119000-31119600	Enhancers	Spleen	Spleen
10	chr16:31119000-31119600	Flanking Active TSS	A549	lung
11	chr16:31119000-31119600	Flanking Active TSS	Hela-S3	cervix
12	chr16:31119000-31119600	Flanking Active TSS	K562	blood
13	chr16:31119000-31120400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr16:31119200-31119600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr16:31119200-31119600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr16:31119200-31119600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr16:31119200-31119600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr16:31119200-31119600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr16:31119200-31119600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr16:31119200-31119600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr16:31119200-31119600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr16:31119200-31119600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr16:31119200-31119600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr16:31119200-31119600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr16:31119200-31119600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr16:31119200-31119600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr16:31119200-31119600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr16:31119200-31119600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr16:31119200-31119600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr16:31119200-31119600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr16:31119200-31119600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr16:31119200-31119600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr16:31119200-31119600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr16:31119200-31119600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr16:31119200-31119600	Flanking Active TSS	Brain Angular Gyrus	brain
36	chr16:31119200-31119600	Flanking Active TSS	Brain Anterior Caudate	brain
37	chr16:31119200-31119600	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr16:31119200-31119600	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr16:31119200-31119600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr16:31119200-31119600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr16:31119200-31119600	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr16:31119200-31119600	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr16:31119200-31119600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr16:31119200-31119600	Flanking Active TSS	Fetal Brain Male	brain
45	chr16:31119200-31119600	Flanking Active TSS	Fetal Brain Female	brain
46	chr16:31119200-31119600	Flanking Active TSS	Fetal Heart	heart
47	chr16:31119200-31119600	Flanking Active TSS	Fetal Lung	lung
48	chr16:31119200-31119600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr16:31119200-31119600	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr16:31119200-31119600	Flanking Active TSS	Thymus	Thymus

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