Variant report

Variant	rs57192967
Chromosome Location	chr16:30769001-30769002
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:30767187-30769454	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr16:30768536-30769419	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr16:30768434-30769412	GM12892	blood:	n/a	n/a
4	POLR2A	chr16:30768632-30769386	GM12892	blood:	n/a	n/a
5	CTCF	chr16:30768980-30769130	HEK293	kidney:	n/a	chr16:30769068-30769077
6	POLR2A	chr16:30768125-30769375	K562	blood:	n/a	n/a
7	POLR2A	chr16:30768577-30769446	GM12892	blood:	n/a	n/a
8	POLR2A	chr16:30768098-30769370	HepG2	liver:	n/a	n/a
9	POLR2A	chr16:30767149-30769221	K562	blood:	n/a	n/a
10	POLR2A	chr16:30768624-30769296	GM12891	blood:	n/a	n/a
11	CTCF	chr16:30768860-30769010	GM12869	blood:	n/a	n/a
12	POLR2A	chr16:30767157-30769389	HL-60	blood:	n/a	n/a
13	POLR2A	chr16:30768881-30769383	K562	blood:	n/a	n/a
14	POLR2A	chr16:30768822-30769138	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr16:30768617-30769355	U87	brain:	n/a	n/a
16	POLR2A	chr16:30767154-30769436	GM12892	blood:	n/a	n/a
17	POLR2A	chr16:30768775-30769124	GM12891	blood:	n/a	n/a
18	POLR2A	chr16:30768613-30769014	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr16:30768554-30769226	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr16:30767724-30769463	K562	blood:	n/a	n/a
21	POLR2A	chr16:30767257-30769238	MCF-7	breast:	n/a	n/a
22	POLR2A	chr16:30768443-30769298	K562	blood:	n/a	n/a
23	POLR2A	chr16:30768572-30769349	HepG2	liver:	n/a	n/a
24	POLR2A	chr16:30768779-30769036	GM12878	blood:	n/a	n/a
25	POLR2A	chr16:30768592-30769319	A549	lung:	n/a	n/a
26	POLR2A	chr16:30768504-30769158	GM12891	blood:	n/a	n/a
27	POLR2A	chr16:30768785-30769062	GM12878	blood:	n/a	n/a
28	POLR2A	chr16:30767117-30769395	GM12878	blood:	n/a	n/a
29	POLR2A	chr16:30767198-30769743	HepG2	liver:	n/a	n/a
30	POLR2A	chr16:30768464-30769357	GM12891	blood:	n/a	n/a
31	POLR2A	chr16:30766926-30769449	PANC-1	pancreas:	n/a	n/a
32	POLR2A	chr16:30768937-30769310	PFSK-1	brain:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:30750779..30752819-chr16:30767787..30770297,2	MCF-7	breast:
2	chr16:30767198..30769504-chr16:30795416..30797699,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNF40	TF binding region
ENSG00000260899	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs60687939	0.95[AFR][1000 genomes]
rs73536495	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv469724	chr16:30632445-30840263	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
4	nsv482704	chr16:30632445-30840263	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv833188	chr16:30632446-30840263	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
6	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
7	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	171 gene(s)	inside rSNPs	diseases
8	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
9	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
10	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30760000-30772400	Weak transcription	Stomach Mucosa	stomach
2	chr16:30760200-30772200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr16:30760400-30772200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr16:30760400-30772200	Weak transcription	Fetal Heart	heart
5	chr16:30760400-30772200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr16:30760400-30772200	Weak transcription	Small Intestine	intestine
7	chr16:30760600-30772200	Weak transcription	Psoas Muscle	Psoas
8	chr16:30760600-30772600	Weak transcription	Right Atrium	heart
9	chr16:30760800-30771200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr16:30761000-30769200	Strong transcription	Primary T cells from cord blood	blood
11	chr16:30761000-30769400	Strong transcription	NHEK	skin
12	chr16:30761000-30769400	Strong transcription	Osteobl	bone
13	chr16:30761000-30772000	Strong transcription	Fetal Intestine Small	intestine
14	chr16:30761200-30769400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr16:30761200-30771200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr16:30761200-30771200	Strong transcription	Placenta Amnion	Placenta Amnion
17	chr16:30761200-30771400	Strong transcription	Fetal Stomach	stomach
18	chr16:30761200-30771600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:30761200-30771800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:30761200-30771800	Strong transcription	NHLF	lung
21	chr16:30761200-30772000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr16:30761200-30772200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr16:30761400-30770000	Strong transcription	Placenta	Placenta
24	chr16:30761400-30771200	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr16:30761400-30771200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr16:30761400-30771400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr16:30761400-30772000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr16:30761600-30769400	Strong transcription	Fetal Thymus	thymus
29	chr16:30761800-30769200	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr16:30761800-30769200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr16:30761800-30769400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr16:30761800-30769400	Strong transcription	HMEC	breast
33	chr16:30761800-30769600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr16:30761800-30769600	Strong transcription	Fetal Muscle Leg	muscle
35	chr16:30761800-30770000	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr16:30761800-30770800	Strong transcription	Brain Anterior Caudate	brain
37	chr16:30761800-30771000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr16:30761800-30771400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr16:30761800-30771400	Strong transcription	Stomach Smooth Muscle	stomach
40	chr16:30762000-30769200	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr16:30762000-30769200	Strong transcription	GM12878-XiMat	blood
42	chr16:30762000-30769400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr16:30762000-30769400	Strong transcription	Brain Substantia Nigra	brain
44	chr16:30762000-30772000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr16:30762200-30769200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr16:30762200-30769200	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr16:30762200-30769200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr16:30762200-30769200	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr16:30762200-30769200	Strong transcription	Spleen	Spleen
50	chr16:30762200-30769400	Strong transcription	H1 Cell Line	embryonic stem cell

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