Variant report

Variant	rs199822427
Chromosome Location	chr16:47178423-47178424
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	CTCF	chr16:47178161-47178626	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3A	chr16:47178096-47178704	H1-hESC	embryonic stem cell:	n/a	chr16:47178123-47178136 chr16:47178154-47178167 chr16:47178148-47178161
3	CTCF	chr16:47178300-47178450	HFF-Myc	foreskin:	n/a	n/a
4	E2F1	chr16:47177145-47178530	Hela-S3	cervix:	n/a	chr16:47178006-47178015 chr16:47178099-47178109 chr16:47177858-47177867 chr16:47178129-47178139 chr16:47177429-47177438 chr16:47178100-47178110
5	CTCF	chr16:47178204-47178489	Spleen_OC	spleen:	n/a	n/a
6	CTCF	chr16:47178300-47178450	GM12874	blood:	n/a	n/a
7	RAD21	chr16:47178091-47178531	H1-hESC	embryonic stem cell:	n/a	n/a
8	GABPA	chr16:47178222-47178708	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr16:47178300-47178450	GM12870	blood:	n/a	n/a
10	CTCF	chr16:47178320-47178470	HMEC	breast:	n/a	n/a
11	CTCF	chr16:47178300-47178450	HPAF	blood vessel:	n/a	n/a
12	CTCF	chr16:47176404-47178979	SK-N-SH	brain:	n/a	chr16:47177448-47177461 chr16:47177445-47177463
13	CTCF	chr16:47178280-47178430	GM12872	blood:	n/a	n/a
14	RAD21	chr16:47178185-47178619	GM12878	blood:	n/a	n/a
15	RCOR1	chr16:47177081-47178500	GM12878	blood:	n/a	n/a
16	CTCF	chr16:47178300-47178450	GM12872	blood:	n/a	n/a
17	RAD21	chr16:47178194-47178597	GM12878	blood:	n/a	n/a
18	POLR2A	chr16:47176404-47178706	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr16:47178280-47178430	SK-N-SH_RA	brain:	n/a	n/a
20	CHD2	chr16:47178308-47178579	GM12878	blood:	n/a	n/a
21	WRNIP1	chr16:47178275-47178674	GM12878	blood:	n/a	n/a
22	POLR2A	chr16:47176766-47178463	Hela-S3	cervix:	n/a	n/a
23	E2F6	chr16:47177198-47178688	A549	lung:	n/a	chr16:47178006-47178015 chr16:47178099-47178109 chr16:47177858-47177867 chr16:47178129-47178139 chr16:47177429-47177438 chr16:47178100-47178110
24	CTCF	chr16:47178280-47178430	AG09309	skin:	n/a	n/a
25	CTCF	chr16:47178300-47178450	HBMEC	blood vessel:	n/a	n/a
26	REST	chr16:47175483-47178634	H1-neurons	neurons:	n/a	chr16:47177413-47177431 chr16:47177457-47177470 chr16:47177335-47177348 chr16:47177460-47177473 chr16:47176824-47176837 chr16:47178145-47178158 chr16:47175934-47175954 chr16:47178154-47178167 chr16:47177184-47177197
27	CTCF	chr16:47178280-47178430	GM12871	blood:	n/a	n/a
28	CTCF	chr16:47178186-47178675	Fibrobl	skin:	n/a	n/a
29	EP300	chr16:47178279-47178527	GM12878	blood:	n/a	n/a
30	CTCF	chr16:47178300-47178450	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr16:47178154-47178557	A549	lung:	n/a	n/a
32	TBP	chr16:47178294-47178601	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr16:47178247-47178491	NHEK	skin:	n/a	n/a
34	CHD2	chr16:47177362-47178613	Hela-S3	cervix:	n/a	chr16:47178587-47178597 chr16:47177861-47177871
35	RCOR1	chr16:47178212-47178470	HepG2	liver:	n/a	n/a
36	CTCF	chr16:47178300-47178450	Caco-2	colon:	n/a	n/a
37	CTCF	chr16:47178280-47178430	Hela-S3	cervix:	n/a	n/a
38	RAD21	chr16:47178182-47178680	HepG2	liver:	n/a	n/a
39	CTCF	chr16:47178224-47178515	A549	lung:	n/a	n/a
40	CTCF	chr16:47178227-47178478	GM10248	blood:	n/a	n/a
41	CTCF	chr16:47178300-47178450	HAc	cerebellar:	n/a	n/a
42	NRF1	chr16:47177664-47178805	SK-N-SH	brain:	n/a	chr16:47178040-47178049 chr16:47177860-47177869 chr16:47177858-47177867
43	POLR2A	chr16:47176906-47178617	Raji	blood:	n/a	n/a
44	SMC3	chr16:47178191-47178587	Hela-S3	cervix:	n/a	n/a
45	MAX	chr16:47176920-47178821	A549	lung:	n/a	n/a
46	MAZ	chr16:47178297-47178445	HepG2	liver:	n/a	n/a
47	CTCF	chr16:47178300-47178450	AG10803	skin:	n/a	n/a
48	CTCF	chr16:47178280-47178430	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr16:47178280-47178430	AG09319	gingival:	n/a	n/a
50	CTCF	chr16:47178272-47178471	Gliobla	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:47005665..47009288-chr16:47176479..47179650,5	K562	blood:
2	chr16:47005815..47008447-chr16:47177298..47179122,2	K562	blood:
3	chr16:47178385..47180317-chr16:47705518..47707688,2	K562	blood:
4	chr16:47175524..47179141-chr16:47493736..47496005,3	MCF-7	breast:
5	chr16:47177383..47180950-chr16:47184423..47188537,5	K562	blood:

Variant related genes	Relation type
NETO2	TF binding region
ENSG00000239840	Chromatin interaction
ENSG00000069345	Chromatin interaction
ENSG00000102893	Chromatin interaction
ENSG00000261173	Chromatin interaction
ENSG00000129636	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:28 , 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	esv1798659	chr16:47083332-47234379	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv1823679	chr16:47089357-47194051	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	esv1795199	chr16:47111119-47732476	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv1803802	chr16:47115776-47367144	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv906660	chr16:47123724-47347780	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1059763	chr16:47147194-47373834	ZNF genes & repeats Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv528423	chr16:47163874-47347780	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	esv1821100	chr16:47171333-47330244	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	esv3394603	chr16:47175976-47179024	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	esv3500922	chr16:47176301-47179099	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	esv3500923	chr16:47176301-47179099	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	esv1841733	chr16:47177234-47188507	ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	esv1848974	chr16:47177234-47188507	Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	esv1795577	chr16:47177234-47194051	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
17	esv1798540	chr16:47177234-47194051	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
18	esv1806675	chr16:47177234-47194051	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
19	esv1816287	chr16:47177234-47194051	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
20	esv1801639	chr16:47177234-47224693	Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
21	esv1801751	chr16:47177234-47224693	Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
22	esv1838902	chr16:47177234-47234379	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
23	esv1850542	chr16:47177234-47234379	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
24	esv1847031	chr16:47177300-47188507	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
25	esv1795119	chr16:47177300-47224693	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
26	esv1841006	chr16:47177300-47271876	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
27	esv1848820	chr16:47177300-47271876	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
28	esv1799115	chr16:47177338-47224693	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47174600-47178800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:47174600-47178800	Active TSS	Fetal Brain Female	brain
3	chr16:47175000-47178800	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr16:47175200-47178600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:47175400-47178600	Active TSS	Muscle Satellite Cultured Cells	--
6	chr16:47175400-47178600	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr16:47175400-47179000	Active TSS	A549	lung
8	chr16:47175600-47178600	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr16:47175600-47178600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr16:47175600-47178600	Active TSS	NHEK	skin
11	chr16:47175600-47178600	Active TSS	NHLF	lung
12	chr16:47175600-47178600	Active TSS	Osteobl	bone
13	chr16:47175600-47178800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr16:47175600-47178800	Active TSS	Brain Hippocampus Middle	brain
15	chr16:47175600-47179000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:47175600-47179000	Active TSS	Brain Angular Gyrus	brain
17	chr16:47175800-47178600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr16:47175800-47178600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr16:47175800-47178800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr16:47175800-47178800	Active TSS	HSMMtube	muscle
21	chr16:47175800-47179000	Active TSS	Hela-S3	cervix
22	chr16:47176000-47178800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
23	chr16:47176000-47178800	Active TSS	Psoas Muscle	Psoas
24	chr16:47176400-47178600	Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr16:47176400-47178800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr16:47176400-47178800	Active TSS	HSMM	muscle
27	chr16:47176600-47178600	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr16:47176600-47178800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr16:47176600-47179000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr16:47177200-47178600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr16:47177200-47178600	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr16:47177200-47178600	Active TSS	Small Intestine	intestine
33	chr16:47177400-47178600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr16:47177800-47178600	Active TSS	Colonic Mucosa	Colon
35	chr16:47177800-47178600	Active TSS	Right Ventricle	heart
36	chr16:47177800-47178800	Active TSS	Lung	lung
37	chr16:47177800-47178800	Active TSS	Placenta Amnion	Placenta Amnion
38	chr16:47178000-47178600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr16:47178000-47178800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr16:47178200-47178600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
41	chr16:47178200-47178600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr16:47178200-47178600	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
43	chr16:47178200-47178600	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr16:47178200-47178600	Flanking Active TSS	Liver	Liver
45	chr16:47178200-47178600	Flanking Active TSS	Esophagus	oesophagus
46	chr16:47178200-47178600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
47	chr16:47178200-47178600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
48	chr16:47178200-47178600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
49	chr16:47178200-47178600	Flanking Active TSS	Pancreas	Pancrea
50	chr16:47178200-47178600	Bivalent/Poised TSS	Thymus	Thymus

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