Variant report

Variant	rs56694912
Chromosome Location	chr16:70716515-70716516
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	HDAC2	chr16:70715216-70717001	HepG2	liver:	n/a	chr16:70716095-70716104
3	CTCF	chr16:70716460-70716610	HepG2	liver:	n/a	n/a
4	FOXA2	chr16:70716505-70717061	HepG2	liver:	n/a	n/a
5	NFIC	chr16:70715251-70716581	HepG2	liver:	n/a	n/a
6	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
7	CTCF	chr16:70716400-70716550	SAEC	small airway:	n/a	n/a
8	HDAC2	chr16:70715846-70716653	HepG2	liver:	n/a	chr16:70716095-70716104
9	POLR2A	chr16:70714037-70719552	HepG2	liver:	n/a	n/a
10	EP300	chr16:70716436-70717038	HepG2	liver:	n/a	n/a
11	POLR2A	chr16:70707751-70721480	HepG2	liver:	n/a	n/a
12	MBD4	chr16:70714961-70718055	HepG2	liver:	n/a	n/a
13	ZBTB7A	chr16:70715483-70716849	HepG2	liver:	n/a	chr16:70716036-70716050 chr16:70716270-70716279
14	CEBPD	chr16:70715164-70716531	HepG2	liver:	n/a	n/a
15	MYBL2	chr16:70716500-70718122	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:70715953..70716889-chr16:70771993..70772575,2	MCF-7	breast:
2	chr16:70716365..70717299-chr16:70804366..70805252,2	MCF-7	breast:
3	chr16:70716277..70717237-chr16:70772051..70772899,4	MCF-7	breast:
4	chr16:70714365..70716642-chr16:70800502..70803105,2	K562	blood:
5	chr16:70706397..70707963-chr16:70716501..70718128,2	K562	blood:
6	chr16:70685129..70687949-chr16:70714245..70716905,2	K562	blood:
7	chr16:70557413..70558963-chr16:70714996..70717937,3	MCF-7	breast:
8	chr16:70715424..70721545-chr16:70778213..70783786,16	MCF-7	breast:

Variant related genes	Relation type
MTSS1L	TF binding region
ENSG00000260156	Chromatin interaction
ENSG00000189091	Chromatin interaction
ENSG00000103043	Chromatin interaction
ENSG00000103051	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11861194	1.00[AMR][1000 genomes]
rs11862112	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11862154	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57436617	1.00[AMR][1000 genomes]
rs58623884	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7188599	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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

No data

Chromatin state (count:103 , 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	chr16:70703000-70717800	Weak transcription	Hela-S3	cervix
4	chr16:70708000-70718600	Weak transcription	Fetal Kidney	kidney
5	chr16:70710000-70718600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr16:70711000-70717800	Enhancers	Fetal Heart	heart
7	chr16:70711000-70718800	Weak transcription	Primary T cells from cord blood	blood
8	chr16:70711800-70719000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr16:70712200-70718600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr16:70712400-70718600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:70712600-70717600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr16:70712600-70717600	Genic enhancers	Fetal Muscle Leg	muscle
13	chr16:70712800-70717000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr16:70712800-70717000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr16:70713200-70718600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr16:70713400-70717200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr16:70713400-70718400	Weak transcription	K562	blood
18	chr16:70713600-70717800	Genic enhancers	Fetal Stomach	stomach
19	chr16:70713800-70717800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr16:70713800-70718600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr16:70714000-70718000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr16:70714000-70718000	Enhancers	Ovary	ovary
23	chr16:70714200-70716800	Genic enhancers	Fetal Intestine Small	intestine
24	chr16:70714200-70717400	Genic enhancers	Esophagus	oesophagus
25	chr16:70714200-70717600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
26	chr16:70714200-70717800	Enhancers	Adipose Nuclei	Adipose
27	chr16:70714200-70717800	Genic enhancers	Fetal Lung	lung
28	chr16:70714200-70718200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr16:70714200-70718400	Enhancers	Left Ventricle	heart
30	chr16:70714200-70718800	Enhancers	Fetal Brain Male	brain
31	chr16:70714200-70719200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr16:70714400-70716600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr16:70714400-70717000	Enhancers	Right Ventricle	heart
34	chr16:70714600-70716600	Enhancers	Osteobl	bone
35	chr16:70714600-70716800	Weak transcription	Dnd41	blood
36	chr16:70714600-70717600	Enhancers	HMEC	breast
37	chr16:70714600-70718400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr16:70714800-70716600	Enhancers	Placenta	Placenta
39	chr16:70714800-70716600	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr16:70714800-70716800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr16:70714800-70717000	Flanking Active TSS	Brain Germinal Matrix	brain
42	chr16:70714800-70718200	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr16:70714800-70718400	Enhancers	Pancreas	Pancrea
44	chr16:70714800-70718800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:70714800-70719000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr16:70715000-70716600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr16:70715000-70717400	Enhancers	Stomach Mucosa	stomach
48	chr16:70715000-70717800	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr16:70715000-70718000	Transcr. at gene 5' and 3'	NHLF	lung
50	chr16:70715200-70716600	Enhancers	Lung	lung

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