Variant report

Variant	rs549680954
Chromosome Location	chr16:70715122-70715123
allele	C/G
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	REST	chr16:70714881-70715234	SK-N-SH	brain:	n/a	chr16:70715089-70715102 chr16:70715091-70715100 chr16:70715047-70715060 chr16:70715085-70715105 chr16:70715044-70715062 chr16:70715096-70715105
3	POLR2A	chr16:70715086-70715443	MCF-7	breast:	n/a	n/a
4	POLR2A	chr16:70714740-70716243	HepG2	liver:	n/a	n/a
5	REST	chr16:70714948-70715199	HepG2	liver:	n/a	chr16:70715089-70715102 chr16:70715091-70715100 chr16:70715047-70715060 chr16:70715085-70715105 chr16:70715044-70715062 chr16:70715096-70715105
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	MYBL2	chr16:70714834-70716435	HepG2	liver:	n/a	n/a
8	POLR2A	chr16:70714037-70719552	HepG2	liver:	n/a	n/a
9	REST	chr16:70714898-70715220	A549	lung:	n/a	chr16:70715089-70715102 chr16:70715091-70715100 chr16:70715047-70715060 chr16:70715085-70715105 chr16:70715044-70715062 chr16:70715096-70715105
10	POLR2A	chr16:70715001-70716379	HepG2	liver:	n/a	n/a
11	POLR2A	chr16:70714329-70716298	HepG2	liver:	n/a	n/a
12	REST	chr16:70715021-70715212	H1-hESC	embryonic stem cell:	n/a	chr16:70715089-70715102 chr16:70715091-70715100 chr16:70715047-70715060 chr16:70715085-70715105 chr16:70715044-70715062 chr16:70715096-70715105
13	POLR2A	chr16:70707751-70721480	HepG2	liver:	n/a	n/a
14	REST	chr16:70714938-70715243	PANC-1	pancreas:	n/a	chr16:70715089-70715102 chr16:70715091-70715100 chr16:70715047-70715060 chr16:70715085-70715105 chr16:70715044-70715062 chr16:70715096-70715105
15	MBD4	chr16:70714961-70718055	HepG2	liver:	n/a	n/a
16	REST	chr16:70714990-70715189	HepG2	liver:	n/a	chr16:70715089-70715102 chr16:70715091-70715100 chr16:70715047-70715060 chr16:70715085-70715105 chr16:70715044-70715062 chr16:70715096-70715105
17	REST	chr16:70714822-70715267	A549	lung:	n/a	chr16:70715089-70715102 chr16:70715091-70715100 chr16:70715047-70715060 chr16:70715085-70715105 chr16:70715044-70715062 chr16:70715096-70715105
18	RAD21	chr16:70715054-70715245	IMR90	lung:	n/a	n/a
19	REST	chr16:70714981-70715184	PANC-1	pancreas:	n/a	chr16:70715089-70715102 chr16:70715091-70715100 chr16:70715047-70715060 chr16:70715085-70715105 chr16:70715044-70715062 chr16:70715096-70715105

No.	Distal block	Cell Line	Cell type
1	chr16:70412847..70415449-chr16:70713492..70715384,2	MCF-7	breast:
2	chr16:70714365..70716642-chr16:70800502..70803105,2	K562	blood:
3	chr16:70685129..70687949-chr16:70714245..70716905,2	K562	blood:
4	chr16:70557413..70558963-chr16:70714996..70717937,3	MCF-7	breast:
5	chr16:70710502..70716221-chr16:70726302..70731102,7	K562	blood:
6	chr16:70713469..70715146-chr16:70778729..70780747,2	MCF-7	breast:

Variant related genes	Relation type
MTSS1L	TF binding region
ENSG00000103051	Chromatin interaction
ENSG00000260111	Chromatin interaction
ENSG00000103043	Chromatin interaction
ENSG00000189091	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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: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	chr16:70703000-70715200	Strong transcription	Thymus	Thymus
4	chr16:70703000-70717800	Weak transcription	Hela-S3	cervix
5	chr16:70704600-70715400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:70705200-70715200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr16:70705800-70715400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr16:70708000-70718600	Weak transcription	Fetal Kidney	kidney
9	chr16:70708800-70715400	Weak transcription	Psoas Muscle	Psoas
10	chr16:70710000-70718600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr16:70710800-70715200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr16:70711000-70715200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr16:70711000-70715400	Weak transcription	NH-A	brain
14	chr16:70711000-70716000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr16:70711000-70717800	Enhancers	Fetal Heart	heart
16	chr16:70711000-70718800	Weak transcription	Primary T cells from cord blood	blood
17	chr16:70711400-70715200	Genic enhancers	Spleen	Spleen
18	chr16:70711800-70719000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr16:70712200-70715200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
20	chr16:70712200-70718600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr16:70712400-70718600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr16:70712600-70715200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr16:70712600-70717600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr16:70712600-70717600	Genic enhancers	Fetal Muscle Leg	muscle
25	chr16:70712800-70717000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr16:70712800-70717000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr16:70713200-70715200	Weak transcription	Aorta	Aorta
28	chr16:70713200-70715400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr16:70713200-70718600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr16:70713400-70715200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr16:70713400-70715800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr16:70713400-70716000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr16:70713400-70716200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr16:70713400-70717200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr16:70713400-70718400	Weak transcription	K562	blood
36	chr16:70713600-70715400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr16:70713600-70717800	Genic enhancers	Fetal Stomach	stomach
38	chr16:70713800-70717800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr16:70713800-70718600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr16:70714000-70715600	Genic enhancers	Fetal Muscle Trunk	muscle
41	chr16:70714000-70718000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr16:70714000-70718000	Enhancers	Ovary	ovary
43	chr16:70714200-70715200	Strong transcription	NHEK	skin
44	chr16:70714200-70716000	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr16:70714200-70716000	Enhancers	Right Atrium	heart
46	chr16:70714200-70716200	Genic enhancers	Fetal Thymus	thymus
47	chr16:70714200-70716800	Genic enhancers	Fetal Intestine Small	intestine
48	chr16:70714200-70717400	Genic enhancers	Esophagus	oesophagus
49	chr16:70714200-70717600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
50	chr16:70714200-70717800	Enhancers	Adipose Nuclei	Adipose

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