Variant report

Variant	rs35794819
Chromosome Location	chr16:72130103-72130104
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	chr16:72130034-72130179	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:72099750..72107853-chr16:72126502..72131093,10	MCF-7	breast:
2	chr16:72042306..72048206-chr16:72125753..72130155,8	MCF-7	breast:
3	chr16:72042016..72045516-chr16:72126835..72130601,4	K562	blood:

Variant related genes	Relation type
DHX38	TF binding region
TXNL4B	TF binding region
ENSG00000102967	Chromatin interaction
ENSG00000261701	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs763665	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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	89 gene(s)	inside rSNPs	diseases
2	nsv833273	chr16:71971805-72152854	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	esv2758430	chr16:71976344-72274347	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	esv2758654	chr16:71976344-72274347	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv428329	chr16:71976344-72274347	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
7	nsv534588	chr16:72078262-72287230	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72128600-72130200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr16:72128600-72132600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:72128800-72131400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:72128800-72132600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:72128800-72136000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr16:72129000-72130400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr16:72129000-72130600	Weak transcription	Right Ventricle	heart
8	chr16:72129200-72130200	Weak transcription	Brain Angular Gyrus	brain
9	chr16:72129200-72130200	Weak transcription	Colonic Mucosa	Colon
10	chr16:72129200-72130200	Weak transcription	A549	lung
11	chr16:72129200-72130400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr16:72129200-72133000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr16:72129200-72133600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr16:72129200-72135000	Strong transcription	Fetal Muscle Leg	muscle
15	chr16:72129400-72130200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr16:72129400-72130200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr16:72129400-72130200	Weak transcription	HSMM	muscle
18	chr16:72129400-72130200	Weak transcription	Osteobl	bone
19	chr16:72129400-72130400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr16:72129400-72130400	Weak transcription	Fetal Brain Male	brain
21	chr16:72129400-72131200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr16:72129400-72131600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr16:72129400-72133400	Weak transcription	Stomach Mucosa	stomach
24	chr16:72129400-72134000	Weak transcription	Small Intestine	intestine
25	chr16:72129400-72138800	Weak transcription	Right Atrium	heart
26	chr16:72129400-72147800	Strong transcription	Primary T cells from cord blood	blood
27	chr16:72129600-72130200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
28	chr16:72129600-72130200	Weak transcription	NH-A	brain
29	chr16:72129600-72130600	Genic enhancers	HepG2	liver
30	chr16:72129600-72130800	Genic enhancers	Dnd41	blood
31	chr16:72129600-72131000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr16:72129600-72135600	Strong transcription	Primary B cells from cord blood	blood
33	chr16:72129800-72130200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr16:72129800-72130200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr16:72129800-72130200	Genic enhancers	Brain Germinal Matrix	brain
36	chr16:72129800-72130200	Flanking Active TSS	GM12878-XiMat	blood
37	chr16:72129800-72134200	Strong transcription	Fetal Muscle Trunk	muscle
38	chr16:72129800-72135400	Weak transcription	Fetal Heart	heart
39	chr16:72129800-72145600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr16:72129800-72146000	Strong transcription	HSMMtube	muscle
41	chr16:72129800-72146600	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr16:72129800-72147000	Strong transcription	Ovary	ovary
43	chr16:72129800-72147200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr16:72129800-72147600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr16:72129800-72147800	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr16:72129800-72148200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr16:72129800-72149000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr16:72130000-72130200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr16:72130000-72130200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr16:72130000-72130200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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