Variant report

Variant	rs60964009
Chromosome Location	chr16:70718015-70718016
allele	C/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	POLR2A	chr16:70714965-70718118	HepG2	liver:	n/a	n/a
2	NFIC	chr16:70717103-70718080	HepG2	liver:	n/a	chr16:70717840-70717856
3	POLR2A	chr16:70717978-70718053	ProgFib	skin:	n/a	n/a
4	MAX	chr16:70714850-70722307	HepG2	liver:	n/a	chr16:70719995-70720004 chr16:70719992-70720003 chr16:70719802-70719812 chr16:70719993-70720002 chr16:70716363-70716373 chr16:70719259-70719269
5	POLR2A	chr16:70716675-70718067	HepG2	liver:	n/a	n/a
6	POLR2A	chr16:70717983-70718160	K562	blood:	n/a	n/a
7	POLR2A	chr16:70714037-70719552	HepG2	liver:	n/a	n/a
8	POLR2A	chr16:70717798-70718210	IMR90	lung:	n/a	n/a
9	POLR2A	chr16:70707751-70721480	HepG2	liver:	n/a	n/a
10	MAZ	chr16:70717552-70721715	IMR90	lung:	n/a	chr16:70719995-70720004 chr16:70719992-70720003 chr16:70719802-70719812 chr16:70719993-70720002 chr16:70719259-70719269
11	MBD4	chr16:70714961-70718055	HepG2	liver:	n/a	n/a
12	POLR2A	chr16:70716652-70718221	HepG2	liver:	n/a	n/a
13	MYC	chr16:70717976-70718043	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr16:70717687-70718152	K562	blood:	n/a	n/a
15	MYBL2	chr16:70716500-70718122	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:70716977..70719990-chr16:70779925..70783515,4	K562	blood:
2	chr16:70706397..70707963-chr16:70716501..70718128,2	K562	blood:
3	chr16:70709373..70712593-chr16:70717107..70721470,4	MCF-7	breast:
4	chr16:70704267..70706050-chr16:70717985..70719949,2	MCF-7	breast:
5	chr16:70414936..70416804-chr16:70716789..70719608,2	MCF-7	breast:
6	chr16:70716857..70722605-chr16:70776377..70783146,15	MCF-7	breast:
7	chr16:70717368..70719959-chr16:70834400..70837024,2	MCF-7	breast:
8	chr16:70717596..70719954-chr16:70769240..70771432,3	K562	blood:
9	chr16:70715424..70721545-chr16:70778213..70783786,16	MCF-7	breast:
10	chr16:70716977..70720923-chr16:70779925..70783515,4	K562	blood:

Variant related genes	Relation type
MTSS1L	TF binding region
ENSG00000132613	Chromatin interaction
ENSG00000103043	Chromatin interaction
ENSG00000260156	Chromatin interaction
ENSG00000262890	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs58436763	1.00[EUR][1000 genomes]
rs58582448	0.97[AFR][1000 genomes]
rs58887293	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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

No data

Chromatin state (count:104 , 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	chr16:70700400-70718800	Weak transcription	Small Intestine	intestine
3	chr16:70708000-70718600	Weak transcription	Fetal Kidney	kidney
4	chr16:70710000-70718600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr16:70711000-70718800	Weak transcription	Primary T cells from cord blood	blood
6	chr16:70711800-70719000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr16:70712200-70718600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr16:70712400-70718600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr16:70713200-70718600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr16:70713400-70718400	Weak transcription	K562	blood
11	chr16:70713800-70718600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr16:70714200-70718200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr16:70714200-70718400	Enhancers	Left Ventricle	heart
14	chr16:70714200-70718800	Enhancers	Fetal Brain Male	brain
15	chr16:70714200-70719200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr16:70714600-70718400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr16:70714800-70718200	Flanking Active TSS	Brain Cingulate Gyrus	brain
18	chr16:70714800-70718400	Enhancers	Pancreas	Pancrea
19	chr16:70714800-70718800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:70714800-70719000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr16:70715400-70718200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:70715400-70718200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr16:70715400-70718200	Flanking Active TSS	Liver	Liver
24	chr16:70715400-70718200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr16:70715400-70718400	Enhancers	Gastric	stomach
26	chr16:70715600-70718200	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
27	chr16:70715600-70718400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr16:70715600-70718400	Weak transcription	HUVEC	blood vessel
29	chr16:70715800-70718200	Transcr. at gene 5' and 3'	Thymus	Thymus
30	chr16:70716000-70718400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr16:70716000-70718600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr16:70716000-70718800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr16:70716000-70718800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr16:70716200-70718200	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
35	chr16:70716400-70718200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr16:70716400-70718400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr16:70716600-70718200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr16:70716600-70718200	Genic enhancers	Placenta	Placenta
39	chr16:70716600-70718200	Enhancers	A549	lung
40	chr16:70716600-70718200	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
41	chr16:70716600-70718800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
42	chr16:70716800-70718200	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr16:70716800-70718200	Transcr. at gene 5' and 3'	HepG2	liver
44	chr16:70716800-70718400	Strong transcription	Fetal Intestine Small	intestine
45	chr16:70717000-70718200	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
46	chr16:70717000-70718400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr16:70717000-70720400	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr16:70717200-70718400	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr16:70717200-70718600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr16:70717200-70718800	Enhancers	Placenta Amnion	Placenta Amnion

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