Variant report

Variant	rs375384356
Chromosome Location	chr16:73091737-73091738
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:102)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:102 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr16:73091372-73091776	H1-hESC	embryonic stem cell:	n/a	chr16:73091544-73091557 chr16:73091745-73091758 chr16:73091630-73091641
2	POLR2A	chr16:73085684-73094561	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr16:73091471-73092059	A549	lung:	n/a	n/a
4	POLR2A	chr16:73091294-73091911	HUVEC	blood vessel:	n/a	n/a
5	HEY1	chr16:73091405-73091877	HepG2	liver:	n/a	n/a
6	HEY1	chr16:73091247-73091885	HepG2	liver:	n/a	n/a
7	TAF1	chr16:73091439-73091890	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr16:73091102-73091843	Hela-S3	cervix:	n/a	n/a
9	YY1	chr16:73091472-73091843	GM12892	blood:	n/a	chr16:73091630-73091641 chr16:73091612-73091626
10	CTCF	chr16:73091409-73091789	IMR90	lung:	n/a	n/a
11	TAF1	chr16:73091535-73091816	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr16:73091406-73091909	HUVEC	blood vessel:	n/a	n/a
13	CTCF	chr16:73091429-73091798	GM12878	blood:	n/a	n/a
14	CTCF	chr16:73091600-73091750	HFF-Myc	foreskin:	n/a	n/a
15	YY1	chr16:73091428-73091889	GM12878	blood:	n/a	chr16:73091630-73091641 chr16:73091612-73091626
16	POLR2A	chr16:73091513-73092995	GM18951	blood:	n/a	n/a
17	POLR2A	chr16:73088440-73091927	MCF10A-Er-Src	breast:	n/a	n/a
18	MXI1	chr16:73091461-73091760	HepG2	liver:	n/a	n/a
19	POLR2A	chr16:73091483-73091773	HCT-116	colon:	n/a	n/a
20	POLR2A	chr16:73091458-73091871	Hela-S3	cervix:	n/a	n/a
21	YY1	chr16:73091353-73091931	HepG2	liver:	n/a	chr16:73091630-73091641 chr16:73091612-73091626
22	ZBTB7A	chr16:73091469-73091774	K562	blood:	n/a	chr16:73091673-73091682
23	TCF12	chr16:73090787-73091741	A549	lung:	n/a	chr16:73091508-73091515
24	POLR2A	chr16:73091523-73093076	GM19099	blood:	n/a	n/a
25	CTCF	chr16:73091600-73091750	BE2_C	brain:	n/a	n/a
26	REST	chr16:73091419-73091756	HepG2	liver:	n/a	chr16:73091633-73091646 chr16:73091544-73091557
27	ELF1	chr16:73091408-73091909	GM12878	blood:	n/a	n/a
28	POLR2A	chr16:73086786-73093402	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr16:73091442-73092964	A549	lung:	n/a	n/a
30	SMC3	chr16:73090871-73091869	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr16:73091594-73091905	HepG2	liver:	n/a	n/a
32	POLR2A	chr16:73091533-73091847	Gliobla	brain:	n/a	n/a
33	POLR2A	chr16:73091500-73091991	MCF-7	breast:	n/a	n/a
34	EGR1	chr16:73091547-73091892	H1-hESC	embryonic stem cell:	n/a	chr16:73091673-73091686
35	POLR2A	chr16:73091383-73091867	HUVEC	blood vessel:	n/a	n/a
36	HDAC2	chr16:73091373-73091904	HepG2	liver:	n/a	n/a
37	RCOR1	chr16:73091460-73091773	Hela-S3	cervix:	n/a	n/a
38	MYC	chr16:73091646-73091790	MCF10A-Er-Src	breast:	n/a	n/a
39	MAX	chr16:73091476-73091769	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr16:73091495-73092938	GM15510	blood:	n/a	n/a
41	ARID3A	chr16:73091578-73091755	HepG2	liver:	n/a	n/a
42	POLR2A	chr16:73091421-73092511	ProgFib	skin:	n/a	n/a
43	CTCF	chr16:73091507-73091738	GM12892	blood:	n/a	n/a
44	TAF1	chr16:73091449-73091759	H1-neurons	neurons:	n/a	n/a
45	RAD21	chr16:73091369-73091888	HepG2	liver:	n/a	n/a
46	POLR2A	chr16:73091486-73091989	GM12878	blood:	n/a	n/a
47	POLR2A	chr16:73090990-73091918	Hela-S3	cervix:	n/a	n/a
48	RAD21	chr16:73091378-73091814	H1-hESC	embryonic stem cell:	n/a	n/a
49	SIN3AK20	chr16:73091420-73091846	PANC-1	pancreas:	n/a	n/a
50	TCF7L2	chr16:73091484-73093360	HCT-116	colon:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

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	chr16:73089824..73092143-chr18:3251149..3252786,2	MCF-7	breast:
8	chr16:73089699..73092181-chr9:100817965..100820433,2	MCF-7	breast:
9	chr16:73090588..73093412-chr16:74330617..74333727,3	MCF-7	breast:
10	chr16:73011522..73014145-chr16:73090435..73093008,2	MCF-7	breast:
11	chr16:73090190..73092632-chr9:95878509..95880181,2	MCF-7	breast:
12	chr16:72954117..72957535-chr16:73090065..73093050,3	MCF-7	breast:
13	chr16:73085960..73092476-chr16:73227779..73233499,9	MCF-7	breast:
14	chr16:72695949..72698024-chr16:73089011..73091874,2	MCF-7	breast:
15	chr16:73089132..73092901-chr16:73127629..73131524,4	MCF-7	breast:
16	chr16:72999501..73001518-chr16:73089190..73091983,2	MCF-7	breast:
17	chr16:72889542..72892358-chr16:73091251..73093063,3	MCF-7	breast:
18	chr16:73091557..73092421-chr16:73102683..73103243,2	Hela-S3	cervix:
19	chr16:73018202..73027072-chr16:73088249..73094904,11	MCF-7	breast:
20	chr16:72975304..72978411-chr16:73089812..73092713,3	MCF-7	breast:
21	chr16:72984070..72988953-chr16:73089098..73093055,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000271009	TF binding region
ENSG00000272250	TF binding region
ENSG00000202077	Chromatin interaction
ENSG00000103035	Chromatin interaction
ENSG00000221799	Chromatin interaction
ENSG00000261404	Chromatin interaction
ENSG00000095380	Chromatin interaction
ENSG00000101608	Chromatin interaction
ENSG00000061273	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:27 , 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

No data

Chromatin state (count:113 , 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	chr16:73089400-73091800	Active TSS	Brain Anterior Caudate	brain
7	chr16:73089600-73093000	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr16:73089600-73093400	Active TSS	Brain Germinal Matrix	brain
9	chr16:73089800-73091800	Active TSS	Brain Substantia Nigra	brain
10	chr16:73089800-73091800	Active TSS	NHDF-Ad	bronchial
11	chr16:73089800-73093400	Active TSS	Left Ventricle	heart
12	chr16:73089800-73093600	Active TSS	Fetal Muscle Trunk	muscle
13	chr16:73089800-73093600	Active TSS	Right Ventricle	heart
14	chr16:73089800-73094200	Active TSS	Psoas Muscle	Psoas
15	chr16:73089800-73094800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr16:73090000-73094200	Active TSS	NHLF	lung
17	chr16:73090000-73095200	Active TSS	HSMM	muscle
18	chr16:73090200-73093600	Active TSS	Rectal Smooth Muscle	rectum
19	chr16:73090200-73094000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:73090400-73092000	Active TSS	Brain Angular Gyrus	brain
21	chr16:73090400-73093000	Active TSS	Placenta Amnion	Placenta Amnion
22	chr16:73090400-73093400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr16:73090400-73093400	Active TSS	Muscle Satellite Cultured Cells	--
24	chr16:73090400-73093600	Active TSS	Ovary	ovary
25	chr16:73090600-73092800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr16:73090800-73093000	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr16:73090800-73093000	Active TSS	Hela-S3	cervix
28	chr16:73090800-73093200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr16:73090800-73093200	Active TSS	Fetal Intestine Large	intestine
30	chr16:73090800-73093400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr16:73090800-73093400	Active TSS	Duodenum Mucosa	Duodenum
32	chr16:73090800-73093400	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr16:73090800-73093600	Active TSS	Colonic Mucosa	Colon
34	chr16:73090800-73093800	Active TSS	A549	lung
35	chr16:73090800-73094000	Active TSS	Stomach Smooth Muscle	stomach
36	chr16:73090800-73094200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr16:73090800-73094200	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr16:73090800-73094200	Active TSS	HSMMtube	muscle
39	chr16:73091000-73091800	Flanking Bivalent TSS/Enh	Dnd41	blood
40	chr16:73091000-73092400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr16:73091000-73093000	Active TSS	GM12878-XiMat	blood
42	chr16:73091000-73093200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr16:73091000-73093200	Active TSS	NH-A	brain
44	chr16:73091000-73093400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr16:73091000-73093400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr16:73091000-73093400	Active TSS	Fetal Intestine Small	intestine
47	chr16:73091000-73093400	Active TSS	Fetal Stomach	stomach
48	chr16:73091000-73094000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr16:73091000-73094200	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr16:73091200-73091800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

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