Variant report

Variant	rs573477081
Chromosome Location	chr16:73092176-73092177
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	chr16:73085684-73094561	H1-neurons	neurons:	n/a	n/a
2	PAX5	chr16:73092152-73092499	GM12892	blood:	n/a	chr16:73092186-73092195 chr16:73092206-73092224 chr16:73092180-73092189
3	E2F6	chr16:73092160-73092550	H1-hESC	embryonic stem cell:	n/a	chr16:73092393-73092400 chr16:73092387-73092397 chr16:73092393-73092400 chr16:73092392-73092401 chr16:73092355-73092367 chr16:73092393-73092400 chr16:73092384-73092394 chr16:73092389-73092401 chr16:73092381-73092391
4	POLR2A	chr16:73091513-73092995	GM18951	blood:	n/a	n/a
5	SIN3AK20	chr16:73092149-73092452	SK-N-SH	brain:	n/a	n/a
6	ZNF143	chr16:73092171-73092411	GM12878	blood:	n/a	chr16:73092346-73092356
7	POLR2A	chr16:73092160-73092403	A549	lung:	n/a	n/a
8	POLR2A	chr16:73092148-73093326	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr16:73092111-73092344	HCT-116	colon:	n/a	n/a
10	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
11	YY1	chr16:73092125-73092509	GM12892	blood:	n/a	chr16:73092380-73092394 chr16:73092384-73092395 chr16:73092383-73092392 chr16:73092380-73092389 chr16:73092377-73092391 chr16:73092381-73092392 chr16:73092383-73092397 chr16:73092386-73092395
12	POLR2A	chr16:73092173-73092595	Hela-S3	cervix:	n/a	n/a
13	YY1	chr16:73092128-73092438	GM12878	blood:	n/a	chr16:73092380-73092394 chr16:73092384-73092395 chr16:73092383-73092392 chr16:73092380-73092389 chr16:73092377-73092391 chr16:73092381-73092392 chr16:73092383-73092397 chr16:73092386-73092395
14	TCF12	chr16:73092141-73092624	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr16:73092024-73092555	Gliobla	brain:	n/a	n/a
16	CHD2	chr16:73092171-73092475	Hela-S3	cervix:	n/a	chr16:73092358-73092368
17	YY1	chr16:73092114-73092542	HepG2	liver:	n/a	chr16:73092380-73092394 chr16:73092384-73092395 chr16:73092383-73092392 chr16:73092380-73092389 chr16:73092377-73092391 chr16:73092381-73092392 chr16:73092383-73092397 chr16:73092386-73092395
18	POLR2A	chr16:73091523-73093076	GM19099	blood:	n/a	n/a
19	POLR2A	chr16:73086786-73093402	Hela-S3	cervix:	n/a	n/a
20	MAZ	chr16:73092135-73093227	GM12878	blood:	n/a	chr16:73092353-73092363
21	POLR2A	chr16:73091442-73092964	A549	lung:	n/a	n/a
22	POLR2A	chr16:73092118-73092435	GM12878	blood:	n/a	n/a
23	CREB1	chr16:73092132-73092481	A549	lung:	n/a	n/a
24	POLR2A	chr16:73091495-73092938	GM15510	blood:	n/a	n/a
25	POLR2A	chr16:73091421-73092511	ProgFib	skin:	n/a	n/a
26	HEY1	chr16:73092173-73092552	HepG2	liver:	n/a	chr16:73092381-73092396 chr16:73092378-73092393 chr16:73092316-73092331
27	CTCF	chr16:73092153-73092412	GM12878	blood:	n/a	chr16:73092285-73092298
28	TCF7L2	chr16:73091484-73093360	HCT-116	colon:	n/a	n/a
29	MAX	chr16:73092048-73093109	HepG2	liver:	n/a	chr16:73092997-73093007 chr16:73092353-73092363
30	E2F1	chr16:73091611-73092739	Hela-S3	cervix:	n/a	chr16:73092393-73092400 chr16:73092387-73092397 chr16:73092393-73092400 chr16:73092392-73092401 chr16:73092355-73092367 chr16:73092393-73092400 chr16:73092384-73092394 chr16:73092389-73092401 chr16:73092381-73092391
31	POLR2A	chr16:73092109-73092414	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr16:73091470-73092574	MCF-7	breast:	n/a	n/a
33	POLR2A	chr16:73089136-73092404	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr16:73092084-73092428	GM12878	blood:	n/a	n/a
35	POLR2A	chr16:73091488-73092912	GM19193	blood:	n/a	n/a
36	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
37	POLR2A	chr16:73086460-73093544	H1-neurons	neurons:	n/a	n/a
38	MAZ	chr16:73091446-73092454	Hela-S3	cervix:	n/a	chr16:73092353-73092363
39	POLR2A	chr16:73092088-73092482	HL-60	blood:	n/a	n/a
40	POLR2A	chr16:73091439-73092952	GM18505	blood:	n/a	n/a
41	POLR2A	chr16:73091409-73092588	HUVEC	blood vessel:	n/a	n/a
42	POLR2A	chr16:73092139-73092785	A549	lung:	n/a	n/a
43	RAD21	chr16:73092176-73093928	IMR90	lung:	n/a	n/a
44	TAF1	chr16:73092125-73092440	HepG2	liver:	n/a	n/a
45	POLR2A	chr16:73092145-73092563	ECC-1	luminal epithelium:	n/a	n/a
46	EGR1	chr16:73092142-73092408	GM12878	blood:	n/a	chr16:73092286-73092299 chr16:73092287-73092301
47	HA-E2F1	chr16:73091492-73092843	Hela-S3	cervix:	n/a	chr16:73092393-73092400 chr16:73092387-73092397 chr16:73092393-73092400 chr16:73092392-73092401 chr16:73092355-73092367 chr16:73092393-73092400 chr16:73092384-73092394 chr16:73092389-73092401 chr16:73092381-73092391
48	POLR2A	chr16:73092068-73092397	A549	lung:	n/a	n/a
49	POLR2A	chr16:73092139-73092450	HepG2	liver:	n/a	n/a
50	POLR2A	chr16:73091395-73092935	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:48212786..48214418-chr16:73090637..73093148,2	MCF-7	breast:
2	chr16:72533667..72535695-chr16:73091048..73092778,3	MCF-7	breast:
3	chr16:72899692..72902233-chr16:73090412..73092893,2	MCF-7	breast:
4	chr16:73089985..73092760-chr17:56736244..56737913,2	MCF-7	breast:
5	chr16:72941682..72943809-chr16:73090133..73092250,3	MCF-7	breast:
6	chr16:73007881..73009600-chr16:73090024..73092207,2	MCF-7	breast:
7	chr16:73089699..73092181-chr9:100817965..100820433,2	MCF-7	breast:
8	chr16:73090588..73093412-chr16:74330617..74333727,3	MCF-7	breast:
9	chr16:73011522..73014145-chr16:73090435..73093008,2	MCF-7	breast:
10	chr16:73090190..73092632-chr9:95878509..95880181,2	MCF-7	breast:
11	chr16:72954117..72957535-chr16:73090065..73093050,3	MCF-7	breast:
12	chr16:73085960..73092476-chr16:73227779..73233499,9	MCF-7	breast:
13	chr16:73089132..73092901-chr16:73127629..73131524,4	MCF-7	breast:
14	chr16:72889542..72892358-chr16:73091251..73093063,3	MCF-7	breast:
15	chr16:73091557..73092421-chr16:73102683..73103243,2	Hela-S3	cervix:
16	chr16:73018202..73027072-chr16:73088249..73094904,11	MCF-7	breast:
17	chr16:72975304..72978411-chr16:73089812..73092713,3	MCF-7	breast:
18	chr10:98346862..98347651-chr16:73091779..73092585,2	Hela-S3	cervix:
19	chr16:72984070..72988953-chr16:73089098..73093055,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272250	TF binding region
ENSG00000271009	TF binding region
ENSG00000077147	Chromatin interaction
ENSG00000061273	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000221799	Chromatin interaction
ENSG00000261404	Chromatin interaction
ENSG00000103035	Chromatin interaction
ENSG00000095380	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	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	nsv572961	chr16:73091679-73092510	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
15	esv1792407	chr16:73091679-73092731	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
16	esv1802707	chr16:73091679-73092731	Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
17	esv1846696	chr16:73091679-73092731	Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
18	nsv572962	chr16:73091679-73092731	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	nsv572966	chr16:73091731-73092731	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
27	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
28	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:110 , 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	chr16:73090600-73092800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr16:73090800-73093000	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr16:73090800-73093000	Active TSS	Hela-S3	cervix
24	chr16:73090800-73093200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr16:73090800-73093200	Active TSS	Fetal Intestine Large	intestine
26	chr16:73090800-73093400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr16:73090800-73093400	Active TSS	Duodenum Mucosa	Duodenum
28	chr16:73090800-73093400	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr16:73090800-73093600	Active TSS	Colonic Mucosa	Colon
30	chr16:73090800-73093800	Active TSS	A549	lung
31	chr16:73090800-73094000	Active TSS	Stomach Smooth Muscle	stomach
32	chr16:73090800-73094200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr16:73090800-73094200	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr16:73090800-73094200	Active TSS	HSMMtube	muscle
35	chr16:73091000-73092400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr16:73091000-73093000	Active TSS	GM12878-XiMat	blood
37	chr16:73091000-73093200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr16:73091000-73093200	Active TSS	NH-A	brain
39	chr16:73091000-73093400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr16:73091000-73093400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr16:73091000-73093400	Active TSS	Fetal Intestine Small	intestine
42	chr16:73091000-73093400	Active TSS	Fetal Stomach	stomach
43	chr16:73091000-73094000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr16:73091000-73094200	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr16:73091200-73093000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr16:73091200-73093000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr16:73091200-73093000	Active TSS	Primary monocytes fromperipheralblood	blood
48	chr16:73091200-73093000	Active TSS	Primary T cells from cord blood	blood
49	chr16:73091200-73093000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr16:73091200-73093000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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