Variant report

Variant	rs368808730
Chromosome Location	chr16:73091044-73091045
allele	A/C
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	TAF1	chr16:73090852-73091427	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr16:73085684-73094561	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr16:73088440-73091927	MCF10A-Er-Src	breast:	n/a	n/a
4	ARID3A	chr16:73090636-73091153	HepG2	liver:	n/a	n/a
5	MAX	chr16:73090808-73091171	Hela-S3	cervix:	n/a	n/a
6	TCF12	chr16:73090787-73091741	A549	lung:	n/a	chr16:73091508-73091515
7	POLR2A	chr16:73086786-73093402	Hela-S3	cervix:	n/a	n/a
8	SMC3	chr16:73090871-73091869	Hela-S3	cervix:	n/a	n/a
9	MYC	chr16:73090996-73091308	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr16:73090874-73091147	MCF10A-Er-Src	breast:	n/a	n/a
11	CTCF	chr16:73090980-73091130	A549	lung:	n/a	n/a
12	POLR2A	chr16:73090990-73091918	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr16:73090787-73091052	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr16:73089136-73092404	MCF10A-Er-Src	breast:	n/a	n/a
15	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
16	POLR2A	chr16:73086460-73093544	H1-neurons	neurons:	n/a	n/a
17	E2F4	chr16:73090505-73091394	MCF10A-Er-Src	breast:	n/a	n/a
18	MXI1	chr16:73090717-73091569	Hela-S3	cervix:	n/a	n/a
19	RAD21	chr16:73090947-73091818	IMR90	lung:	n/a	n/a
20	REST	chr16:73079663-73097378	H1-neurons	neurons:	n/a	chr16:73084142-73084155 chr16:73087431-73087444 chr16:73082371-73082384 chr16:73091909-73091929 chr16:73082047-73082060 chr16:73097037-73097057 chr16:73088004-73088022 chr16:73091374-73091387 chr16:73091745-73091758 chr16:73096963-73096973 chr16:73091633-73091646 chr16:73091913-73091926 chr16:73097037-73097057 chr16:73081695-73081715 chr16:73091544-73091557 chr16:73096925-73096938 chr16:73097330-73097339
21	TBP	chr16:73090772-73091333	Hela-S3	cervix:	n/a	n/a
22	TCF7L2	chr16:73090514-73091371	HEK293	kidney:	n/a	chr16:73090917-73090924
23	POLR2A	chr16:73088321-73094761	IMR90	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	chr16:73089985..73092760-chr17:56736244..56737913,2	MCF-7	breast:
4	chr16:72941682..72943809-chr16:73090133..73092250,3	MCF-7	breast:
5	chr16:73052788..73055370-chr16:73088414..73091315,3	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	chr16:73058271..73060863-chr16:73088850..73091395,2	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:
22	chr16:73088683..73091239-chr17:62222998..62225387,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272250	TF binding region
ENSG00000271009	TF binding region
ENSG00000266402	Chromatin interaction
ENSG00000061273	Chromatin interaction
ENSG00000221799	Chromatin interaction
ENSG00000261404	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000199753	Chromatin interaction
ENSG00000095380	Chromatin interaction
ENSG00000101608	Chromatin interaction
ENSG00000103035	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73087200-73091200	Enhancers	Primary hematopoietic stem cells	blood
2	chr16:73087600-73091400	Weak transcription	Spleen	Spleen
3	chr16:73087800-73091400	Weak transcription	Lung	lung
4	chr16:73087800-73099200	Active TSS	Aorta	Aorta
5	chr16:73088200-73095200	Active TSS	Right Atrium	heart
6	chr16:73088400-73091200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr16:73088400-73091200	Flanking Active TSS	Osteobl	bone
8	chr16:73088600-73091400	Flanking Active TSS	NHEK	skin
9	chr16:73088800-73091200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr16:73088800-73093000	Active TSS	Brain Hippocampus Middle	brain
11	chr16:73089200-73091400	Bivalent/Poised TSS	Fetal Brain Female	brain
12	chr16:73089200-73091600	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr16:73089200-73093200	Active TSS	Brain Cingulate Gyrus	brain
14	chr16:73089200-73093400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr16:73089400-73091200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr16:73089400-73091400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr16:73089400-73091800	Active TSS	Brain Anterior Caudate	brain
18	chr16:73089600-73091200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
19	chr16:73089600-73091400	Weak transcription	Esophagus	oesophagus
20	chr16:73089600-73091400	Weak transcription	Gastric	stomach
21	chr16:73089600-73093000	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr16:73089600-73093400	Active TSS	Brain Germinal Matrix	brain
23	chr16:73089800-73091200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
24	chr16:73089800-73091200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr16:73089800-73091200	Weak transcription	Pancreas	Pancrea
26	chr16:73089800-73091400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
27	chr16:73089800-73091400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr16:73089800-73091400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr16:73089800-73091600	Flanking Active TSS	HUVEC	blood vessel
30	chr16:73089800-73091800	Active TSS	Brain Substantia Nigra	brain
31	chr16:73089800-73091800	Active TSS	NHDF-Ad	bronchial
32	chr16:73089800-73093400	Active TSS	Left Ventricle	heart
33	chr16:73089800-73093600	Active TSS	Fetal Muscle Trunk	muscle
34	chr16:73089800-73093600	Active TSS	Right Ventricle	heart
35	chr16:73089800-73094200	Active TSS	Psoas Muscle	Psoas
36	chr16:73089800-73094800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr16:73090000-73091200	Bivalent/Poised TSS	Fetal Brain Male	brain
38	chr16:73090000-73091200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr16:73090000-73094200	Active TSS	NHLF	lung
40	chr16:73090000-73095200	Active TSS	HSMM	muscle
41	chr16:73090200-73091200	Flanking Active TSS	Liver	Liver
42	chr16:73090200-73091600	Bivalent/Poised TSS	HepG2	liver
43	chr16:73090200-73093600	Active TSS	Rectal Smooth Muscle	rectum
44	chr16:73090200-73094000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:73090400-73091200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
46	chr16:73090400-73091600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
47	chr16:73090400-73091600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr16:73090400-73092000	Active TSS	Brain Angular Gyrus	brain
49	chr16:73090400-73093000	Active TSS	Placenta Amnion	Placenta Amnion
50	chr16:73090400-73093400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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