Variant report

Variant	rs60002562
Chromosome Location	chr16:70717550-70717551
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	EP300	chr16:70717408-70717766	HepG2	liver:	n/a	n/a
4	EP300	chr16:70717102-70717834	HepG2	liver:	n/a	chr16:70717814-70717821
5	HDAC2	chr16:70717174-70717779	HepG2	liver:	n/a	n/a
6	YY1	chr16:70717369-70717895	HepG2	liver:	n/a	n/a
7	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
8	POLR2A	chr16:70717185-70717785	HepG2	liver:	n/a	n/a
9	POLR2A	chr16:70717131-70717980	HepG2	liver:	n/a	n/a
10	POLR2A	chr16:70716675-70718067	HepG2	liver:	n/a	n/a
11	TEAD4	chr16:70717202-70717729	HepG2	liver:	n/a	n/a
12	POLR2A	chr16:70714037-70719552	HepG2	liver:	n/a	n/a
13	HDAC2	chr16:70717098-70717780	HepG2	liver:	n/a	n/a
14	HNF4A	chr16:70717362-70717703	HepG2	liver:	n/a	chr16:70717475-70717490 chr16:70717536-70717558 chr16:70717541-70717553 chr16:70717540-70717554 chr16:70717539-70717554 chr16:70717541-70717554
15	RCOR1	chr16:70716736-70717665	HepG2	liver:	n/a	n/a
16	HEY1	chr16:70717116-70717920	HepG2	liver:	n/a	n/a
17	POLR2A	chr16:70717204-70717606	K562	blood:	n/a	n/a
18	POLR2A	chr16:70716782-70717981	HepG2	liver:	n/a	n/a
19	EP300	chr16:70717376-70717753	HepG2	liver:	n/a	n/a
20	POLR2A	chr16:70707751-70721480	HepG2	liver:	n/a	n/a
21	MBD4	chr16:70714961-70718055	HepG2	liver:	n/a	n/a
22	POLR2A	chr16:70716652-70718221	HepG2	liver:	n/a	n/a
23	TAF1	chr16:70717517-70717802	HepG2	liver:	n/a	n/a
24	ESRRA	chr16:70717179-70717779	HepG2	liver:	n/a	chr16:70717750-70717759 chr16:70717540-70717552 chr16:70717559-70717571
25	RFX5	chr16:70717204-70717803	HepG2	liver:	n/a	n/a
26	ZBTB7A	chr16:70717267-70717623	HepG2	liver:	n/a	n/a
27	MAX	chr16:70717358-70717824	HepG2	liver:	n/a	n/a
28	HNF4G	chr16:70717211-70717717	HepG2	liver:	n/a	chr16:70717476-70717491 chr16:70717536-70717558 chr16:70717541-70717553 chr16:70717540-70717554 chr16:70717541-70717554
29	HEY1	chr16:70717263-70717889	HepG2	liver:	n/a	n/a
30	CEBPD	chr16:70717176-70717756	HepG2	liver:	n/a	n/a
31	HNF4G	chr16:70717206-70717681	HepG2	liver:	n/a	chr16:70717476-70717491 chr16:70717536-70717558 chr16:70717541-70717553 chr16:70717540-70717554 chr16:70717541-70717554
32	MYBL2	chr16:70716500-70718122	HepG2	liver:	n/a	n/a
33	MAZ	chr16:70717205-70717797	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	chr16:70414936..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	chr16:70557413..70558963-chr16:70714996..70717937,3	MCF-7	breast:
8	chr16:70715424..70721545-chr16:70778213..70783786,16	MCF-7	breast:
9	chr16:70716977..70720923-chr16:70779925..70783515,4	K562	blood:

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

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs16970439	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970463	1.00[AMR][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	chr16:70703000-70717800	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	chr16:70713200-70718600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr16:70713400-70718400	Weak transcription	K562	blood
15	chr16:70713600-70717800	Genic enhancers	Fetal Stomach	stomach
16	chr16:70713800-70717800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr16:70713800-70718600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr16:70714000-70718000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr16:70714000-70718000	Enhancers	Ovary	ovary
20	chr16:70714200-70717600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
21	chr16:70714200-70717800	Enhancers	Adipose Nuclei	Adipose
22	chr16:70714200-70717800	Genic enhancers	Fetal Lung	lung
23	chr16:70714200-70718200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr16:70714200-70718400	Enhancers	Left Ventricle	heart
25	chr16:70714200-70718800	Enhancers	Fetal Brain Male	brain
26	chr16:70714200-70719200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr16:70714600-70717600	Enhancers	HMEC	breast
28	chr16:70714600-70718400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr16:70714800-70718200	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr16:70714800-70718400	Enhancers	Pancreas	Pancrea
31	chr16:70714800-70718800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr16:70714800-70719000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr16:70715000-70717800	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr16:70715000-70718000	Transcr. at gene 5' and 3'	NHLF	lung
35	chr16:70715200-70717800	Enhancers	Brain Substantia Nigra	brain
36	chr16:70715400-70718200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:70715400-70718200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr16:70715400-70718200	Flanking Active TSS	Liver	Liver
39	chr16:70715400-70718200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr16:70715400-70718400	Enhancers	Gastric	stomach
41	chr16:70715600-70718000	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
42	chr16:70715600-70718200	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
43	chr16:70715600-70718400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr16:70715600-70718400	Weak transcription	HUVEC	blood vessel
45	chr16:70715800-70718000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr16:70715800-70718200	Transcr. at gene 5' and 3'	Thymus	Thymus
47	chr16:70716000-70717800	Weak transcription	Right Atrium	heart
48	chr16:70716000-70718000	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
49	chr16:70716000-70718400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr16:70716000-70718600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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