Variant report

Variant	rs546132342
Chromosome Location	chr16:70720012-70720013
allele	G/T
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	UBTF	chr16:70719572-70720113	K562	blood:	n/a	n/a
2	POLR2A	chr16:70719842-70720285	HepG2	liver:	n/a	n/a
3	YY1	chr16:70719862-70720208	ECC-1	luminal epithelium:	n/a	chr16:70720075-70720089 chr16:70720006-70720015
4	POLR2A	chr16:70719987-70720179	HepG2	liver:	n/a	n/a
5	MYC	chr16:70719371-70720303	NB4	blood:	n/a	chr16:70719995-70720004 chr16:70719992-70720003 chr16:70719802-70719812 chr16:70719993-70720002
6	POLR2A	chr16:70719834-70720800	H1-hESC	embryonic stem cell:	n/a	n/a
7	USF2	chr16:70719908-70720139	K562	blood:	n/a	chr16:70719992-70720003
8	USF1	chr16:70719878-70720043	GM12878	blood:	n/a	chr16:70719991-70720002
9	POLR2A	chr16:70718956-70720387	H1-neurons	neurons:	n/a	n/a
10	BACH1	chr16:70719910-70720474	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr16:70719815-70721325	Hela-S3	cervix:	n/a	n/a
12	USF1	chr16:70719844-70720193	HepG2	liver:	n/a	chr16:70719991-70720002
13	MAX	chr16:70719863-70720324	ECC-1	luminal epithelium:	n/a	chr16:70719995-70720004 chr16:70719992-70720003 chr16:70719993-70720002
14	POLR2A	chr16:70719634-70720263	A549	lung:	n/a	n/a
15	POLR2A	chr16:70719780-70720315	HCT-116	colon:	n/a	n/a
16	POLR2A	chr16:70719787-70720245	HepG2	liver:	n/a	n/a
17	HCFC1	chr16:70719801-70720131	K562	blood:	n/a	n/a
18	YY1	chr16:70719814-70720190	K562	blood:	n/a	chr16:70720075-70720089 chr16:70720006-70720015
19	HDAC2	chr16:70719855-70720215	K562	blood:	n/a	chr16:70720075-70720084
20	SRF	chr16:70719847-70720323	ECC-1	luminal epithelium:	n/a	chr16:70719998-70720008
21	MXI1	chr16:70719175-70720637	HepG2	liver:	n/a	chr16:70719992-70720001
22	TBP	chr16:70720010-70720102	HepG2	liver:	n/a	n/a
23	POLR2A	chr16:70719909-70720570	U87	brain:	n/a	n/a
24	POLR2A	chr16:70719825-70720341	HCT-116	colon:	n/a	n/a
25	SIN3AK20	chr16:70719858-70720255	SK-N-SH	brain:	n/a	n/a
26	CHD2	chr16:70719473-70720186	Hela-S3	cervix:	n/a	n/a
27	MAX	chr16:70719806-70720191	SK-N-SH	brain:	n/a	chr16:70719995-70720004 chr16:70719992-70720003 chr16:70719993-70720002
28	CHD1	chr16:70718330-70720779	IMR90	lung:	n/a	n/a
29	E2F4	chr16:70719910-70720212	MCF10A-Er-Src	breast:	n/a	n/a
30	TCF12	chr16:70719864-70720479	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr16:70719291-70720288	MCF-7	breast:	n/a	n/a
32	E2F6	chr16:70719423-70720182	K562	blood:	n/a	chr16:70720027-70720038
33	PML	chr16:70719778-70720274	MCF-7	breast:	n/a	n/a
34	MAZ	chr16:70719328-70720267	Hela-S3	cervix:	n/a	chr16:70719995-70720004 chr16:70719992-70720003 chr16:70719802-70719812 chr16:70719993-70720002
35	MAX	chr16:70719245-70721574	NB4	blood:	n/a	chr16:70719995-70720004 chr16:70719992-70720003 chr16:70719802-70719812 chr16:70719993-70720002 chr16:70719259-70719269
36	CREB1	chr16:70718817-70720776	HepG2	liver:	n/a	n/a
37	POLR2A	chr16:70719973-70720173	GM12878	blood:	n/a	n/a
38	MAZ	chr16:70719623-70720290	HepG2	liver:	n/a	chr16:70719995-70720004 chr16:70719992-70720003 chr16:70719802-70719812 chr16:70719993-70720002
39	MAX	chr16:70719461-70720220	H1-hESC	embryonic stem cell:	n/a	chr16:70719995-70720004 chr16:70719992-70720003 chr16:70719802-70719812 chr16:70719993-70720002
40	MAX	chr16:70719282-70720824	ECC-1	luminal epithelium:	n/a	chr16:70719995-70720004 chr16:70719992-70720003 chr16:70719802-70719812 chr16:70719993-70720002
41	POLR2A	chr16:70719928-70720583	K562	blood:	n/a	n/a
42	YY1	chr16:70719805-70720469	K562	blood:	n/a	chr16:70720075-70720089 chr16:70720006-70720015
43	MAZ	chr16:70719009-70720678	K562	blood:	n/a	chr16:70719995-70720004 chr16:70719992-70720003 chr16:70719802-70719812 chr16:70719993-70720002 chr16:70719259-70719269
44	NRF1	chr16:70719463-70720419	SK-N-SH	brain:	n/a	chr16:70720397-70720406 chr16:70720075-70720089 chr16:70720075-70720086
45	POLR2A	chr16:70719446-70720297	K562	blood:	n/a	n/a
46	POLR2A	chr16:70719909-70720942	U87	brain:	n/a	n/a
47	NRF1	chr16:70719984-70720223	K562	blood:	n/a	chr16:70720075-70720089 chr16:70720075-70720086
48	EP300	chr16:70719797-70720665	HepG2	liver:	n/a	n/a
49	CHD2	chr16:70719982-70720133	HepG2	liver:	n/a	n/a
50	E2F1	chr16:70719289-70720349	Hela-S3	cervix:	n/a	chr16:70719341-70719348

No.	Distal block	Cell Line	Cell type
1	chr16:70709373..70712593-chr16:70717107..70721470,4	MCF-7	breast:
2	chr16:70716857..70722605-chr16:70776377..70783146,15	MCF-7	breast:
3	chr16:70555634..70562342-chr16:70718026..70723686,6	MCF-7	breast:
4	chr1:28974074..28976735-chr16:70718527..70720954,2	K562	blood:
5	chr16:70715424..70721545-chr16:70778213..70783786,16	MCF-7	breast:
6	chr16:70716977..70720923-chr16:70779925..70783515,4	K562	blood:

Variant related genes	Relation type
MTSS1L	TF binding region
ENSG00000103043	Chromatin interaction
ENSG00000132613	Chromatin interaction
ENSG00000270103	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000260156	Chromatin interaction
ENSG00000189091	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	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv906874	chr16:70677785-70740707	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv906875	chr16:70677785-70742536	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv906876	chr16:70677785-70757555	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv906877	chr16:70677785-70766378	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv906878	chr16:70677785-70782922	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv906879	chr16:70677785-70790831	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv906880	chr16:70677785-70796515	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv906882	chr16:70690989-70725815	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
12	nsv572946	chr16:70694000-70740707	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
13	nsv471094	chr16:70694000-70749970	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
14	nsv906884	chr16:70696009-70725815	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv906885	chr16:70696367-70742536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
16	nsv1059226	chr16:70708698-70779144	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
17	nsv906886	chr16:70712549-70727324	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
18	nsv906887	chr16:70714434-70727324	Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
19	nsv572947	chr16:70714434-70731870	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
20	nsv906888	chr16:70716742-70742536	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
21	esv3400505	chr16:70718476-70721024	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
22	esv3372973	chr16:70718876-70721424	Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70694600-70720200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:70717000-70720400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr16:70717200-70720400	Active TSS	HSMMtube	muscle
4	chr16:70717600-70720200	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr16:70717800-70720600	Active TSS	Aorta	Aorta
6	chr16:70718000-70720200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr16:70718000-70720200	Active TSS	NHLF	lung
8	chr16:70718000-70720400	Active TSS	Brain Anterior Caudate	brain
9	chr16:70718200-70720200	Active TSS	Brain Substantia Nigra	brain
10	chr16:70718200-70720400	Active TSS	Rectal Smooth Muscle	rectum
11	chr16:70718200-70720400	Active TSS	HSMM	muscle
12	chr16:70718200-70720400	Active TSS	NHDF-Ad	bronchial
13	chr16:70718400-70720200	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr16:70718600-70720200	Active TSS	Liver	Liver
15	chr16:70718600-70720400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr16:70718600-70720400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr16:70718600-70720400	Active TSS	Fetal Kidney	kidney
18	chr16:70718600-70720600	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr16:70718600-70720800	Active TSS	H9 Cell Line	embryonic stem cell
20	chr16:70718800-70720200	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr16:70718800-70720200	Active TSS	Muscle Satellite Cultured Cells	--
22	chr16:70718800-70720200	Active TSS	Esophagus	oesophagus
23	chr16:70718800-70720200	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr16:70718800-70720200	Active TSS	Thymus	Thymus
25	chr16:70718800-70720400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr16:70718800-70720400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr16:70718800-70720400	Active TSS	Psoas Muscle	Psoas
28	chr16:70719000-70720200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr16:70719000-70720200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:70719000-70720200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr16:70719000-70720200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr16:70719000-70720200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr16:70719000-70720200	Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr16:70719000-70720200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr16:70719000-70720200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr16:70719000-70720200	Active TSS	Brain Angular Gyrus	brain
37	chr16:70719000-70720200	Active TSS	Brain Hippocampus Middle	brain
38	chr16:70719000-70720200	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr16:70719000-70720200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr16:70719000-70720200	Active TSS	Fetal Muscle Trunk	muscle
41	chr16:70719000-70720200	Active TSS	Fetal Stomach	stomach
42	chr16:70719000-70720200	Active TSS	Left Ventricle	heart
43	chr16:70719000-70720200	Active TSS	Lung	lung
44	chr16:70719000-70720200	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr16:70719000-70720200	Active TSS	A549	lung
46	chr16:70719000-70720200	Active TSS	Hela-S3	cervix
47	chr16:70719000-70720200	Active TSS	HMEC	breast
48	chr16:70719000-70720200	Active TSS	NH-A	brain
49	chr16:70719000-70720200	Active TSS	Osteobl	bone
50	chr16:70719000-70720400	Active TSS	ES-I3 Cell Line	embryonic stem cell

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