Variant report

Variant	rs571178028
Chromosome Location	chr16:73093008-73093009
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	EP300	chr16:73092817-73093213	SK-N-SH_RA	brain:	n/a	n/a
2	POLR2A	chr16:73092640-73093259	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr16:73085684-73094561	H1-neurons	neurons:	n/a	n/a
4	GTF2F1	chr16:73092949-73093274	Hela-S3	cervix:	n/a	n/a
5	SMC3	chr16:73092880-73093348	Hela-S3	cervix:	n/a	n/a
6	YY1	chr16:73092913-73093134	HCT-116	colon:	n/a	n/a
7	NRF1	chr16:73092843-73093167	GM12878	blood:	n/a	chr16:73092995-73093006 chr16:73092995-73093004 chr16:73092992-73093006
8	CTCF	chr16:73093007-73093069	GM12878	blood:	n/a	n/a
9	POLR2A	chr16:73092700-73093146	HCT-116	colon:	n/a	n/a
10	RUNX3	chr16:73092672-73093159	GM12878	blood:	n/a	n/a
11	RCOR1	chr16:73092994-73093371	Hela-S3	cervix:	n/a	n/a
12	RFX5	chr16:73092899-73093363	Hela-S3	cervix:	n/a	n/a
13	SP1	chr16:73092838-73093220	H1-hESC	embryonic stem cell:	n/a	chr16:73093099-73093110 chr16:73093081-73093092
14	FOXA1	chr16:73092920-73093144	T-47D	breast:	n/a	n/a
15	POLR2A	chr16:73092920-73093504	HUVEC	blood vessel:	n/a	n/a
16	BHLHE40	chr16:73092959-73093195	A549	lung:	n/a	n/a
17	E2F4	chr16:73092856-73093429	MCF10A-Er-Src	breast:	n/a	chr16:73092996-73093005
18	POLR2A	chr16:73092148-73093326	Hela-S3	cervix:	n/a	n/a
19	YY1	chr16:73092749-73093353	SK-N-SH_RA	brain:	n/a	n/a
20	POLR2A	chr16:73092703-73093101	SK-N-MC	brain:	n/a	n/a
21	SIN3AK20	chr16:73092806-73093212	PFSK-1	brain:	n/a	n/a
22	EP300	chr16:73091969-73093171	SK-N-SH	brain:	n/a	chr16:73092181-73092195 chr16:73092382-73092391 chr16:73092377-73092393 chr16:73092316-73092332 chr16:73092385-73092394 chr16:73092175-73092189
23	EP300	chr16:73092838-73093521	A549	lung:	n/a	chr16:73093395-73093409 chr16:73093368-73093382
24	ZNF143	chr16:73092859-73093218	GM12878	blood:	n/a	n/a
25	TAF1	chr16:73092668-73093103	ECC-1	luminal epithelium:	n/a	n/a
26	MYC	chr16:73092876-73093417	MCF10A-Er-Src	breast:	n/a	chr16:73092997-73093007
27	ZNF263	chr16:73092842-73093362	HEK293-T-REx	kidney:	n/a	n/a
28	TAF1	chr16:73092610-73093358	H1-neurons	neurons:	n/a	n/a
29	MAX	chr16:73092812-73093148	NB4	blood:	n/a	chr16:73092997-73093007
30	POLR2A	chr16:73092729-73093276	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr16:73093000-73093150	SK-N-SH_RA	brain:	n/a	n/a
32	POLR2A	chr16:73091523-73093076	GM19099	blood:	n/a	n/a
33	MAX	chr16:73092806-73093329	Hela-S3	cervix:	n/a	chr16:73092997-73093007
34	RAD21	chr16:73092879-73093250	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr16:73086786-73093402	Hela-S3	cervix:	n/a	n/a
36	MAZ	chr16:73092135-73093227	GM12878	blood:	n/a	chr16:73092353-73092363
37	POLR2A	chr16:73092912-73093348	MCF10A-Er-Src	breast:	n/a	n/a
38	EP300	chr16:73092214-73093181	ECC-1	luminal epithelium:	n/a	chr16:73092382-73092391 chr16:73092377-73092393 chr16:73092316-73092332 chr16:73092385-73092394
39	YY1	chr16:73092613-73093008	GM12878	blood:	n/a	n/a
40	MAX	chr16:73092787-73093251	ECC-1	luminal epithelium:	n/a	chr16:73092997-73093007
41	CTCF	chr16:73092980-73093130	HMEC	breast:	n/a	n/a
42	MAX	chr16:73092651-73093436	A549	lung:	n/a	chr16:73092997-73093007
43	NRF1	chr16:73092686-73093975	SK-N-SH	brain:	n/a	chr16:73092995-73093006 chr16:73092995-73093004 chr16:73092744-73092753 chr16:73092992-73093006
44	CTCF	chr16:73092940-73093090	HCPEpiC	choroid plexus:	n/a	n/a
45	YY1	chr16:73092754-73093176	ECC-1	luminal epithelium:	n/a	n/a
46	BRCA1	chr16:73092944-73093333	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr16:73092796-73093250	SK-N-SH	brain:	n/a	n/a
48	MAFK	chr16:73092906-73093337	Hela-S3	cervix:	n/a	n/a
49	TCF7L2	chr16:73091484-73093360	HCT-116	colon:	n/a	n/a
50	TCF7L2	chr16:73092824-73093116	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:48212786..48214418-chr16:73090637..73093148,2	MCF-7	breast:
2	chr16:73090588..73093412-chr16:74330617..74333727,3	MCF-7	breast:
3	chr16:73011522..73014145-chr16:73090435..73093008,2	MCF-7	breast:
4	chr16:72954117..72957535-chr16:73090065..73093050,3	MCF-7	breast:
5	chr16:72889542..72892358-chr16:73091251..73093063,3	MCF-7	breast:
6	chr16:73018202..73027072-chr16:73088249..73094904,11	MCF-7	breast:
7	chr16:72984070..72988953-chr16:73089098..73093055,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272250	TF binding region
ENSG00000271009	TF binding region
ENSG00000261404	Chromatin interaction
ENSG00000103035	Chromatin interaction
ENSG00000221799	Chromatin interaction
ENSG00000061273	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906898	chr16:73017684-73128146	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv827730	chr16:73066699-73115642	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv827732	chr16:73069343-73116594	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv827733	chr16:73075114-73103721	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	esv1815924	chr16:73085286-73105415	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	esv3338026	chr16:73089651-73094249	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv827734	chr16:73090810-73096182	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	esv3340230	chr16:73090976-73094024	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	esv3330340	chr16:73091301-73093599	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	esv3403469	chr16:73091451-73093349	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
11	esv11235	chr16:73091650-73093207	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
12	esv1840305	chr16:73091679-73093145	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
13	esv1845618	chr16:73091679-73093145	Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
14	nsv572965	chr16:73091679-73093145	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
15	esv1837302	chr16:73091679-73102456	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73087800-73099200	Active TSS	Aorta	Aorta
2	chr16:73088200-73095200	Active TSS	Right Atrium	heart
3	chr16:73089200-73093200	Active TSS	Brain Cingulate Gyrus	brain
4	chr16:73089200-73093400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr16:73089600-73093400	Active TSS	Brain Germinal Matrix	brain
6	chr16:73089800-73093400	Active TSS	Left Ventricle	heart
7	chr16:73089800-73093600	Active TSS	Fetal Muscle Trunk	muscle
8	chr16:73089800-73093600	Active TSS	Right Ventricle	heart
9	chr16:73089800-73094200	Active TSS	Psoas Muscle	Psoas
10	chr16:73089800-73094800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr16:73090000-73094200	Active TSS	NHLF	lung
12	chr16:73090000-73095200	Active TSS	HSMM	muscle
13	chr16:73090200-73093600	Active TSS	Rectal Smooth Muscle	rectum
14	chr16:73090200-73094000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:73090400-73093400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr16:73090400-73093400	Active TSS	Muscle Satellite Cultured Cells	--
17	chr16:73090400-73093600	Active TSS	Ovary	ovary
18	chr16:73090800-73093200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr16:73090800-73093200	Active TSS	Fetal Intestine Large	intestine
20	chr16:73090800-73093400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr16:73090800-73093400	Active TSS	Duodenum Mucosa	Duodenum
22	chr16:73090800-73093400	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr16:73090800-73093600	Active TSS	Colonic Mucosa	Colon
24	chr16:73090800-73093800	Active TSS	A549	lung
25	chr16:73090800-73094000	Active TSS	Stomach Smooth Muscle	stomach
26	chr16:73090800-73094200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr16:73090800-73094200	Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr16:73090800-73094200	Active TSS	HSMMtube	muscle
29	chr16:73091000-73093200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr16:73091000-73093200	Active TSS	NH-A	brain
31	chr16:73091000-73093400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr16:73091000-73093400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr16:73091000-73093400	Active TSS	Fetal Intestine Small	intestine
34	chr16:73091000-73093400	Active TSS	Fetal Stomach	stomach
35	chr16:73091000-73094000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr16:73091000-73094200	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr16:73091200-73093200	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr16:73091200-73093200	Active TSS	Liver	Liver
39	chr16:73091200-73093400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr16:73091200-73093400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr16:73091200-73093400	Active TSS	Colon Smooth Muscle	Colon
42	chr16:73091200-73093400	Active TSS	Pancreas	Pancrea
43	chr16:73091200-73093600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr16:73091200-73093600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr16:73091200-73093600	Active TSS	Osteobl	bone
46	chr16:73091400-73093200	Active TSS	Gastric	stomach
47	chr16:73091400-73093200	Active TSS	Lung	lung
48	chr16:73091400-73093200	Active TSS	Small Intestine	intestine
49	chr16:73091400-73093200	Active TSS	Spleen	Spleen
50	chr16:73091400-73093400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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