Variant report

Variant	rs7195695
Chromosome Location	chr16:70718533-70718534
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	CHD1	chr16:70718330-70720779	IMR90	lung:	n/a	n/a
2	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
3	MXI1	chr16:70718251-70721759	IMR90	lung:	n/a	chr16:70718377-70718392 chr16:70719992-70720001 chr16:70720875-70720884
4	MAX	chr16:70718459-70718611	HepG2	liver:	n/a	n/a
5	POLR2A	chr16:70714037-70719552	HepG2	liver:	n/a	n/a
6	MBD4	chr16:70718296-70719084	HepG2	liver:	n/a	n/a
7	POLR2A	chr16:70707751-70721480	HepG2	liver:	n/a	n/a
8	MAZ	chr16:70717552-70721715	IMR90	lung:	n/a	chr16:70719995-70720004 chr16:70719992-70720003 chr16:70719802-70719812 chr16:70719993-70720002 chr16:70719259-70719269
9	POLR2A	chr16:70718413-70721562	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:70716977..70719990-chr16:70779925..70783515,4	K562	blood:
2	chr16:70709373..70712593-chr16:70717107..70721470,4	MCF-7	breast:
3	chr16:70704267..70706050-chr16:70717985..70719949,2	MCF-7	breast:
4	chr16:70414936..70416804-chr16:70716789..70719608,2	MCF-7	breast:
5	chr16:70716857..70722605-chr16:70776377..70783146,15	MCF-7	breast:
6	chr16:70717368..70719959-chr16:70834400..70837024,2	MCF-7	breast:
7	chr16:70555634..70562342-chr16:70718026..70723686,6	MCF-7	breast:
8	chr16:70718434..70719938-chr16:70760026..70761921,2	K562	blood:
9	chr16:70717596..70719954-chr16:70769240..70771432,3	K562	blood:
10	chr1:28974074..28976735-chr16:70718527..70720954,2	K562	blood:
11	chr16:70715424..70721545-chr16:70778213..70783786,16	MCF-7	breast:
12	chr16:70716977..70720923-chr16:70779925..70783515,4	K562	blood:

Variant related genes	Relation type
MTSS1L	TF binding region
ENSG00000189091	Chromatin interaction
ENSG00000260156	Chromatin interaction
ENSG00000270103	Chromatin interaction
ENSG00000132613	Chromatin interaction
ENSG00000262890	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000103043	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12599280	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35566469	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3813908	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7194558	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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

No data

Chromatin state (count:105 , 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	chr16:70713800-70718600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr16:70714200-70718800	Enhancers	Fetal Brain Male	brain
12	chr16:70714200-70719200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr16:70714800-70718800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:70714800-70719000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr16:70716000-70718600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr16:70716000-70718800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr16:70716000-70718800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:70716600-70718800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
19	chr16:70717000-70720400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr16:70717200-70718600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr16:70717200-70718800	Enhancers	Placenta Amnion	Placenta Amnion
22	chr16:70717200-70720400	Active TSS	HSMMtube	muscle
23	chr16:70717400-70718600	Weak transcription	Stomach Mucosa	stomach
24	chr16:70717600-70718600	Enhancers	Spleen	Spleen
25	chr16:70717600-70718800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr16:70717600-70718800	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
27	chr16:70717600-70719000	Flanking Active TSS	HMEC	breast
28	chr16:70717600-70719000	Flanking Active TSS	Osteobl	bone
29	chr16:70717600-70720200	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr16:70717800-70718600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr16:70717800-70718600	Active TSS	Duodenum Mucosa	Duodenum
32	chr16:70717800-70719000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr16:70717800-70719000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr16:70717800-70719000	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
35	chr16:70717800-70719000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr16:70717800-70720600	Active TSS	Aorta	Aorta
37	chr16:70718000-70718600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr16:70718000-70718600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr16:70718000-70718800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr16:70718000-70719000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr16:70718000-70719000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr16:70718000-70719000	Flanking Active TSS	Ovary	ovary
43	chr16:70718000-70719000	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr16:70718000-70719200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
45	chr16:70718000-70720200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr16:70718000-70720200	Active TSS	NHLF	lung
47	chr16:70718000-70720400	Active TSS	Brain Anterior Caudate	brain
48	chr16:70718200-70718600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr16:70718200-70718600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr16:70718200-70718600	Active TSS	Brain Angular Gyrus	brain

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