Variant report

Variant	rs561595132
Chromosome Location	chr16:30544794-30544795
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:30544666-30544905	K562	blood:	n/a	n/a
2	POLR2A	chr16:30537047-30547480	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:30544776-30544851	GM12878	blood:	n/a	n/a
4	POLR2A	chr16:30544440-30547500	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr16:30544359-30544951	HepG2	liver:	n/a	n/a
6	POLR2A	chr16:30544778-30545017	HUVEC	blood vessel:	n/a	n/a
7	RAD21	chr16:30544624-30547653	SK-N-SH	brain:	n/a	chr16:30546105-30546117 chr16:30546103-30546110 chr16:30546248-30546262 chr16:30547185-30547199
8	HEY1	chr16:30544418-30544917	HepG2	liver:	n/a	n/a
9	POLR2A	chr16:30544525-30544809	MCF-7	breast:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30439809..30443048-chr16:30544747..30548003,3	K562	blood:
2	chr16:30074349..30076669-chr16:30543330..30545893,2	MCF-7	breast:
3	chr16:30541129..30548783-chr16:30576543..30583587,16	MCF-7	breast:
4	chr16:30544664..30548849-chr16:30597277..30601099,4	K562	blood:
5	chr16:30544644..30549200-chr16:30579756..30585399,7	K562	blood:
6	chr16:30534557..30548684-chr16:30561877..30572653,49	MCF-7	breast:
7	chr16:30544371..30547496-chr16:30661598..30664666,3	K562	blood:
8	chr16:30543696..30550338-chr16:30595198..30599305,8	MCF-7	breast:
9	chr16:30454856..30459511-chr16:30543910..30548861,10	K562	blood:
10	chr16:30439652..30442096-chr16:30544594..30547144,2	MCF-7	breast:
11	chr16:30541481..30548892-chr16:30595486..30600580,13	MCF-7	breast:
12	chr16:30453263..30460635-chr16:30534974..30549190,40	MCF-7	breast:
13	chr16:30542999..30545115-chr16:30620251..30622007,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000235560	TF binding region
ENSG00000169951	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000179958	Chromatin interaction
ENSG00000261588	Chromatin interaction
ENSG00000260869	Chromatin interaction
ENSG00000197162	Chromatin interaction
ENSG00000149925	Chromatin interaction
ENSG00000156858	Chromatin interaction
ENSG00000260167	Chromatin interaction
ENSG00000229809	Chromatin interaction
ENSG00000156853	Chromatin interaction
ENSG00000239791	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532531	chr16:30370550-30581820	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
4	nsv905726	chr16:30528272-30546488	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Enhancers Bivalent Enhancer 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	50 gene(s)	inside rSNPs	diseases
5	esv3390311	chr16:30544451-30567432	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking 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	31 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30539200-30545200	Weak transcription	HSMM	muscle
2	chr16:30539400-30545000	Weak transcription	Fetal Brain Male	brain
3	chr16:30539400-30545000	Weak transcription	NH-A	brain
4	chr16:30539400-30545200	Weak transcription	Psoas Muscle	Psoas
5	chr16:30539400-30545200	Weak transcription	HSMMtube	muscle
6	chr16:30539600-30544800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr16:30539600-30544800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr16:30539600-30544800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr16:30539600-30544800	Weak transcription	Fetal Kidney	kidney
10	chr16:30539600-30545200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:30539600-30545200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:30539600-30545200	Weak transcription	A549	lung
13	chr16:30539600-30545200	Weak transcription	NHDF-Ad	bronchial
14	chr16:30541800-30544800	Strong transcription	Brain Cingulate Gyrus	brain
15	chr16:30542200-30544800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr16:30542200-30544800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr16:30542800-30544800	Strong transcription	NHLF	lung
18	chr16:30543000-30544800	Weak transcription	Primary T cells from cord blood	blood
19	chr16:30543200-30545200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr16:30544000-30544800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr16:30544000-30544800	Genic enhancers	Spleen	Spleen
22	chr16:30544000-30545000	Genic enhancers	Primary T cells fromperipheralblood	blood
23	chr16:30544000-30545000	Genic enhancers	Esophagus	oesophagus
24	chr16:30544000-30545000	Genic enhancers	Placenta	Placenta
25	chr16:30544000-30545200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr16:30544000-30545200	Genic enhancers	Placenta Amnion	Placenta Amnion
27	chr16:30544200-30544800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr16:30544200-30545000	Genic enhancers	Lung	lung
29	chr16:30544200-30545200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr16:30544200-30545200	Weak transcription	Aorta	Aorta
31	chr16:30544400-30544800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr16:30544400-30544800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr16:30544400-30544800	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr16:30544400-30544800	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr16:30544400-30544800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr16:30544400-30544800	Flanking Active TSS	Colonic Mucosa	Colon
37	chr16:30544400-30544800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr16:30544400-30544800	Genic enhancers	Fetal Muscle Trunk	muscle
39	chr16:30544400-30544800	Enhancers	Gastric	stomach
40	chr16:30544400-30544800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr16:30544400-30545000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr16:30544400-30545000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr16:30544400-30545000	Enhancers	Primary B cells from cord blood	blood
44	chr16:30544400-30545000	Genic enhancers	Fetal Muscle Leg	muscle
45	chr16:30544400-30545000	Enhancers	HMEC	breast
46	chr16:30544400-30545200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr16:30544400-30545200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr16:30544400-30545200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr16:30544400-30545200	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr16:30544400-30545200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

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