Variant report

Variant	rs369507023
Chromosome Location	chr16:73092818-73092819
allele	-/GGC
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	YY1	chr16:73092617-73092940	GM12892	blood:	n/a	n/a
5	MYC	chr16:73092794-73092908	MCF-7	breast:	n/a	n/a
6	POLR2A	chr16:73092793-73092910	A549	lung:	n/a	n/a
7	POLR2A	chr16:73092620-73092867	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr16:73092700-73093146	HCT-116	colon:	n/a	n/a
9	POLR2A	chr16:73092774-73092821	Gliobla	brain:	n/a	n/a
10	RUNX3	chr16:73092672-73093159	GM12878	blood:	n/a	n/a
11	POLR2A	chr16:73092625-73092924	MCF-7	breast:	n/a	n/a
12	POLR2A	chr16:73091513-73092995	GM18951	blood:	n/a	n/a
13	POLR2A	chr16:73092148-73093326	Hela-S3	cervix:	n/a	n/a
14	YY1	chr16:73092749-73093353	SK-N-SH_RA	brain:	n/a	n/a
15	EP300	chr16:73092622-73092944	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr16:73092703-73093101	SK-N-MC	brain:	n/a	n/a
17	SIN3AK20	chr16:73092806-73093212	PFSK-1	brain:	n/a	n/a
18	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
19	YY1	chr16:73092621-73093003	HepG2	liver:	n/a	n/a
20	TAF1	chr16:73092668-73093103	ECC-1	luminal epithelium:	n/a	n/a
21	TAF1	chr16:73092610-73093358	H1-neurons	neurons:	n/a	n/a
22	MAX	chr16:73092812-73093148	NB4	blood:	n/a	chr16:73092997-73093007
23	POLR2A	chr16:73092729-73093276	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr16:73091523-73093076	GM19099	blood:	n/a	n/a
25	MAX	chr16:73092806-73093329	Hela-S3	cervix:	n/a	chr16:73092997-73093007
26	POLR2A	chr16:73086786-73093402	Hela-S3	cervix:	n/a	n/a
27	MAZ	chr16:73092135-73093227	GM12878	blood:	n/a	chr16:73092353-73092363
28	POLR2A	chr16:73091442-73092964	A549	lung:	n/a	n/a
29	EP300	chr16:73092214-73093181	ECC-1	luminal epithelium:	n/a	chr16:73092382-73092391 chr16:73092377-73092393 chr16:73092316-73092332 chr16:73092385-73092394
30	YY1	chr16:73092613-73093008	GM12878	blood:	n/a	n/a
31	FOXA1	chr16:73092640-73092927	HepG2	liver:	n/a	n/a
32	UBTF	chr16:73092580-73092846	K562	blood:	n/a	n/a
33	MAX	chr16:73092787-73093251	ECC-1	luminal epithelium:	n/a	chr16:73092997-73093007
34	MAX	chr16:73092651-73093436	A549	lung:	n/a	chr16:73092997-73093007
35	NRF1	chr16:73092686-73093975	SK-N-SH	brain:	n/a	chr16:73092995-73093006 chr16:73092995-73093004 chr16:73092744-73092753 chr16:73092992-73093006
36	YY1	chr16:73092754-73093176	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr16:73091495-73092938	GM15510	blood:	n/a	n/a
38	POLR2A	chr16:73092796-73093250	SK-N-SH	brain:	n/a	n/a
39	TCF7L2	chr16:73091484-73093360	HCT-116	colon:	n/a	n/a
40	MAX	chr16:73092048-73093109	HepG2	liver:	n/a	chr16:73092997-73093007 chr16:73092353-73092363
41	RUNX3	chr16:73092681-73093064	GM12878	blood:	n/a	n/a
42	TAF1	chr16:73092725-73092991	PFSK-1	brain:	n/a	n/a
43	POLR2A	chr16:73091488-73092912	GM19193	blood:	n/a	n/a
44	TAF1	chr16:73092628-73093448	H1-neurons	neurons:	n/a	n/a
45	CHD1	chr16:73084743-73093728	IMR90	lung:	n/a	chr16:73092049-73092059 chr16:73091379-73091389 chr16:73092358-73092368 chr16:73091670-73091680 chr16:73087450-73087460 chr16:73087960-73087970
46	HDAC2	chr16:73092780-73093421	MCF-7	breast:	n/a	chr16:73093369-73093383 chr16:73093374-73093388 chr16:73092920-73092934 chr16:73093365-73093379 chr16:73092924-73092938 chr16:73092918-73092932 chr16:73092919-73092933 chr16:73093366-73093380 chr16:73093370-73093384
47	POLR2A	chr16:73086460-73093544	H1-neurons	neurons:	n/a	n/a
48	MAX	chr16:73092651-73093583	A549	lung:	n/a	chr16:73092997-73093007
49	POLR2A	chr16:73091439-73092952	GM18505	blood:	n/a	n/a
50	POLR2A	chr16:73092790-73092925	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:48212786..48214418-chr16:73090637..73093148,2	MCF-7	breast:
2	chr16:72899692..72902233-chr16:73090412..73092893,2	MCF-7	breast:
3	chr16:73090588..73093412-chr16:74330617..74333727,3	MCF-7	breast:
4	chr16:73011522..73014145-chr16:73090435..73093008,2	MCF-7	breast:
5	chr16:72954117..72957535-chr16:73090065..73093050,3	MCF-7	breast:
6	chr16:73089132..73092901-chr16:73127629..73131524,4	MCF-7	breast:
7	chr16:72889542..72892358-chr16:73091251..73093063,3	MCF-7	breast:
8	chr16:73018202..73027072-chr16:73088249..73094904,11	MCF-7	breast:
9	chr16:72984070..72988953-chr16:73089098..73093055,6	MCF-7	breast:

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

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 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	esv1819498	chr16:73079212-73092845	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
6	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
7	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
8	nsv572960	chr16:73090039-73092950	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	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
14	esv1836276	chr16:73091679-73092845	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
15	nsv572963	chr16:73091679-73092845	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
16	nsv572964	chr16:73091679-73092950	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
17	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
18	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
19	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
20	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
21	nsv572967	chr16:73091731-73092845	Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
22	nsv572968	chr16:73091791-73092845	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 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	chr16:73088800-73093000	Active TSS	Brain Hippocampus Middle	brain
4	chr16:73089200-73093200	Active TSS	Brain Cingulate Gyrus	brain
5	chr16:73089200-73093400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr16:73089600-73093000	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr16:73089600-73093400	Active TSS	Brain Germinal Matrix	brain
8	chr16:73089800-73093400	Active TSS	Left Ventricle	heart
9	chr16:73089800-73093600	Active TSS	Fetal Muscle Trunk	muscle
10	chr16:73089800-73093600	Active TSS	Right Ventricle	heart
11	chr16:73089800-73094200	Active TSS	Psoas Muscle	Psoas
12	chr16:73089800-73094800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr16:73090000-73094200	Active TSS	NHLF	lung
14	chr16:73090000-73095200	Active TSS	HSMM	muscle
15	chr16:73090200-73093600	Active TSS	Rectal Smooth Muscle	rectum
16	chr16:73090200-73094000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:73090400-73093000	Active TSS	Placenta Amnion	Placenta Amnion
18	chr16:73090400-73093400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr16:73090400-73093400	Active TSS	Muscle Satellite Cultured Cells	--
20	chr16:73090400-73093600	Active TSS	Ovary	ovary
21	chr16:73090800-73093000	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr16:73090800-73093000	Active TSS	Hela-S3	cervix
23	chr16:73090800-73093200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr16:73090800-73093200	Active TSS	Fetal Intestine Large	intestine
25	chr16:73090800-73093400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr16:73090800-73093400	Active TSS	Duodenum Mucosa	Duodenum
27	chr16:73090800-73093400	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr16:73090800-73093600	Active TSS	Colonic Mucosa	Colon
29	chr16:73090800-73093800	Active TSS	A549	lung
30	chr16:73090800-73094000	Active TSS	Stomach Smooth Muscle	stomach
31	chr16:73090800-73094200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr16:73090800-73094200	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr16:73090800-73094200	Active TSS	HSMMtube	muscle
34	chr16:73091000-73093000	Active TSS	GM12878-XiMat	blood
35	chr16:73091000-73093200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr16:73091000-73093200	Active TSS	NH-A	brain
37	chr16:73091000-73093400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr16:73091000-73093400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr16:73091000-73093400	Active TSS	Fetal Intestine Small	intestine
40	chr16:73091000-73093400	Active TSS	Fetal Stomach	stomach
41	chr16:73091000-73094000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr16:73091000-73094200	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr16:73091200-73093000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr16:73091200-73093000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr16:73091200-73093000	Active TSS	Primary monocytes fromperipheralblood	blood
46	chr16:73091200-73093000	Active TSS	Primary T cells from cord blood	blood
47	chr16:73091200-73093000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr16:73091200-73093000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr16:73091200-73093000	Active TSS	Fetal Muscle Leg	muscle
50	chr16:73091200-73093200	Active TSS	Breast Myoepithelial Primary Cells	Breast

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