Variant report

Variant	rs60945619
Chromosome Location	chr16:73091435-73091436
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:63)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:63 , 50 per page) page: 1 2

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	ELK1	chr16:73091398-73091676	Hela-S3	cervix:	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	POLR2A	chr16:73091102-73091843	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr16:73091409-73091789	IMR90	lung:	n/a	n/a
9	POLR2A	chr16:73091406-73091909	HUVEC	blood vessel:	n/a	n/a
10	CTCF	chr16:73091429-73091798	GM12878	blood:	n/a	n/a
11	CTCF	chr16:73091380-73091630	NHLF	lung:	n/a	n/a
12	YY1	chr16:73091428-73091889	GM12878	blood:	n/a	chr16:73091630-73091641 chr16:73091612-73091626
13	ZNF384	chr16:73091383-73091573	GM12878	blood:	n/a	n/a
14	POLR2A	chr16:73088440-73091927	MCF10A-Er-Src	breast:	n/a	n/a
15	RCOR1	chr16:73091369-73091600	GM12878	blood:	n/a	n/a
16	YY1	chr16:73091353-73091931	HepG2	liver:	n/a	chr16:73091630-73091641 chr16:73091612-73091626
17	TCF12	chr16:73090787-73091741	A549	lung:	n/a	chr16:73091508-73091515
18	CTCF	chr16:73091400-73091690	WI-38	lung:	n/a	n/a
19	REST	chr16:73091419-73091756	HepG2	liver:	n/a	chr16:73091633-73091646 chr16:73091544-73091557
20	ELF1	chr16:73091408-73091909	GM12878	blood:	n/a	n/a
21	POLR2A	chr16:73086786-73093402	Hela-S3	cervix:	n/a	n/a
22	SMC3	chr16:73090871-73091869	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr16:73091383-73091867	HUVEC	blood vessel:	n/a	n/a
24	CTCF	chr16:73091420-73091570	GM12873	blood:	n/a	n/a
25	HDAC2	chr16:73091373-73091904	HepG2	liver:	n/a	n/a
26	POLR2A	chr16:73091421-73092511	ProgFib	skin:	n/a	n/a
27	CTCF	chr16:73091380-73091530	GM12872	blood:	n/a	n/a
28	RAD21	chr16:73091369-73091888	HepG2	liver:	n/a	n/a
29	CTCF	chr16:73091420-73091570	GM12864	blood:	n/a	n/a
30	POLR2A	chr16:73090990-73091918	Hela-S3	cervix:	n/a	n/a
31	RAD21	chr16:73091378-73091814	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr16:73091420-73091570	GM06990	blood:	n/a	n/a
33	SIN3AK20	chr16:73091420-73091846	PANC-1	pancreas:	n/a	n/a
34	SIN3AK20	chr16:73091380-73091781	SK-N-SH	brain:	n/a	n/a
35	CTCF	chr16:73091360-73091510	HAc	cerebellar:	n/a	n/a
36	POLR2A	chr16:73089136-73092404	MCF10A-Er-Src	breast:	n/a	n/a
37	JUND	chr16:73091395-73091848	A549	lung:	n/a	n/a
38	TCF7L2	chr16:73091426-73091672	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr16:73091314-73091862	HepG2	liver:	n/a	n/a
40	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
41	CHD2	chr16:73091365-73091797	Hela-S3	cervix:	n/a	chr16:73091379-73091389 chr16:73091670-73091680
42	POLR2A	chr16:73086460-73093544	H1-neurons	neurons:	n/a	n/a
43	MAZ	chr16:73091408-73091803	HepG2	liver:	n/a	n/a
44	TAF1	chr16:73091417-73092043	HepG2	liver:	n/a	n/a
45	POLR2A	chr16:73091409-73092588	HUVEC	blood vessel:	n/a	n/a
46	RCOR1	chr16:73091431-73091759	HepG2	liver:	n/a	n/a
47	RAD21	chr16:73091366-73091787	SK-N-SH_RA	brain:	n/a	n/a
48	ZBTB7A	chr16:73091291-73091931	ECC-1	luminal epithelium:	n/a	chr16:73091673-73091682
49	ZBTB7A	chr16:73091313-73091883	ECC-1	luminal epithelium:	n/a	chr16:73091673-73091682
50	CTCF	chr16:73091187-73092026	SK-N-SH	brain:	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	chr16:73088909..73091660-chr16:73169088..73170894,3	MCF-7	breast:
13	chr16:72954117..72957535-chr16:73090065..73093050,3	MCF-7	breast:
14	chr16:73085960..73092476-chr16:73227779..73233499,9	MCF-7	breast:
15	chr16:72695949..72698024-chr16:73089011..73091874,2	MCF-7	breast:
16	chr16:73089132..73092901-chr16:73127629..73131524,4	MCF-7	breast:
17	chr16:72999501..73001518-chr16:73089190..73091983,2	MCF-7	breast:
18	chr16:72889542..72892358-chr16:73091251..73093063,3	MCF-7	breast:
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
ENSG00000272250	TF binding region
ENSG00000271009	TF binding region
ENSG00000061273	Chromatin interaction
ENSG00000101608	Chromatin interaction
ENSG00000103035	Chromatin interaction
ENSG00000095380	Chromatin interaction
ENSG00000221799	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000261404	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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

No data

Chromatin state (count:116 , 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	chr16:73089200-73091600	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr16:73089200-73093200	Active TSS	Brain Cingulate Gyrus	brain
6	chr16:73089200-73093400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr16:73089400-73091800	Active TSS	Brain Anterior Caudate	brain
8	chr16:73089600-73093000	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr16:73089600-73093400	Active TSS	Brain Germinal Matrix	brain
10	chr16:73089800-73091600	Flanking Active TSS	HUVEC	blood vessel
11	chr16:73089800-73091800	Active TSS	Brain Substantia Nigra	brain
12	chr16:73089800-73091800	Active TSS	NHDF-Ad	bronchial
13	chr16:73089800-73093400	Active TSS	Left Ventricle	heart
14	chr16:73089800-73093600	Active TSS	Fetal Muscle Trunk	muscle
15	chr16:73089800-73093600	Active TSS	Right Ventricle	heart
16	chr16:73089800-73094200	Active TSS	Psoas Muscle	Psoas
17	chr16:73089800-73094800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr16:73090000-73094200	Active TSS	NHLF	lung
19	chr16:73090000-73095200	Active TSS	HSMM	muscle
20	chr16:73090200-73091600	Bivalent/Poised TSS	HepG2	liver
21	chr16:73090200-73093600	Active TSS	Rectal Smooth Muscle	rectum
22	chr16:73090200-73094000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr16:73090400-73091600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
24	chr16:73090400-73091600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr16:73090400-73092000	Active TSS	Brain Angular Gyrus	brain
26	chr16:73090400-73093000	Active TSS	Placenta Amnion	Placenta Amnion
27	chr16:73090400-73093400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr16:73090400-73093400	Active TSS	Muscle Satellite Cultured Cells	--
29	chr16:73090400-73093600	Active TSS	Ovary	ovary
30	chr16:73090600-73092800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr16:73090800-73091600	Active TSS	Placenta	Placenta
32	chr16:73090800-73093000	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr16:73090800-73093000	Active TSS	Hela-S3	cervix
34	chr16:73090800-73093200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr16:73090800-73093200	Active TSS	Fetal Intestine Large	intestine
36	chr16:73090800-73093400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr16:73090800-73093400	Active TSS	Duodenum Mucosa	Duodenum
38	chr16:73090800-73093400	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr16:73090800-73093600	Active TSS	Colonic Mucosa	Colon
40	chr16:73090800-73093800	Active TSS	A549	lung
41	chr16:73090800-73094000	Active TSS	Stomach Smooth Muscle	stomach
42	chr16:73090800-73094200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr16:73090800-73094200	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr16:73090800-73094200	Active TSS	HSMMtube	muscle
45	chr16:73091000-73091600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr16:73091000-73091600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
47	chr16:73091000-73091800	Flanking Bivalent TSS/Enh	Dnd41	blood
48	chr16:73091000-73092400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr16:73091000-73093000	Active TSS	GM12878-XiMat	blood
50	chr16:73091000-73093200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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