Variant report

Variant	rs117269245
Chromosome Location	chr16:75528959-75528960
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:75528959-75529475	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr16:75528898-75529547	ECC-1	luminal epithelium:	n/a	chr16:75529155-75529165 chr16:75529431-75529441 chr16:75529229-75529239
3	TBP	chr16:75528517-75529623	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr16:75528354-75529660	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr16:75528444-75529069	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr16:75528247-75529653	H1-hESC	embryonic stem cell:	n/a	n/a
7	RUNX3	chr16:75528928-75529485	GM12878	blood:	n/a	n/a
8	MAX	chr16:75528483-75528985	ECC-1	luminal epithelium:	n/a	n/a
9	TAF1	chr16:75528556-75529504	H1-hESC	embryonic stem cell:	n/a	n/a
10	SIN3A	chr16:75528386-75529728	H1-hESC	embryonic stem cell:	n/a	chr16:75529421-75529434
11	E2F6	chr16:75528524-75528982	H1-hESC	embryonic stem cell:	n/a	chr16:75528715-75528727
12	E2F6	chr16:75528418-75529562	H1-hESC	embryonic stem cell:	n/a	chr16:75528715-75528727 chr16:75529419-75529429
13	CTCF	chr16:75528900-75529050	GM12871	blood:	n/a	n/a
14	TAF1	chr16:75528564-75529665	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr16:75528830-75529587	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:75528920-75528970	GM06990	blood:	n/a
2	chr16:75528920-75528970	PrEC	prostate:	n/a
3	chr16:75528920-75528970	HEEpiC	esophagus:	n/a
4	chr16:75528920-75528970	GM12891	blood:	n/a
5	chr16:75528920-75528970	Jurkat	blood:	n/a
6	chr16:75528920-75528970	BE2_C	brain:	n/a
7	chr16:75528920-75528970	Hela-S3	cervix:	n/a
8	chr16:75528920-75528970	CMK	blood:	n/a
9	chr16:75528920-75528970	GM12892	blood:	n/a
10	chr16:75528920-75528970	NHBE	bronchial:	n/a
11	chr16:75528920-75528970	NT2-D1	testis:	n/a
12	chr16:75528920-75528970	GM12878	blood:	n/a
13	chr16:75528920-75528970	NH-A	brain:	n/a
14	chr16:75528920-75528970	RPTEC	kidney:	n/a
15	chr16:75528920-75528970	ECC-1	luminal epithelium:	n/a
16	chr16:75528920-75528970	PANC-1	pancreas:	n/a
17	chr16:75528920-75528970	HNPCEpiC	eye:	n/a
18	chr16:75528920-75528970	GM19239	blood:	n/a
19	chr16:75528920-75528970	PFSK-1	brain:	n/a
20	chr16:75528920-75528970	HRCEpiC	kidney:	n/a
21	chr16:75528920-75528970	AG09319	gingival:	n/a
22	chr16:75528920-75528970	HCPEpiC	choroid plexus:	n/a
23	chr16:75528920-75528970	K562	blood:	n/a
24	chr16:75528920-75528970	SAEC	small airway:	n/a
25	chr16:75528920-75528970	HCT-116	colon:	n/a
26	chr16:75528920-75528970	BJ	skin:	n/a
27	chr16:75528920-75528970	IMR90	lung:	fetal
28	chr16:75528920-75528970	HepG2	liver:	n/a
29	chr16:75528920-75528970	HIPEpiC	eye:	n/a
30	chr16:75528920-75528970	HRPEpiC	eye:	n/a
31	chr16:75528920-75528970	HPAEpiC	pulmonary alveolar:	n/a
32	chr16:75528920-75528970	NHDF-neo	bronchial:	n/a
33	chr16:75528920-75528970	HUVEC	blood vessel:	n/a
34	chr16:75528920-75528970	MCF-7	breast:	n/a
35	chr16:75528920-75528970	Caco-2	colon:	n/a
36	chr16:75528920-75528970	AG04450	lung:	fetal
37	chr16:75528920-75528970	SK-N-SH	brain:	n/a
38	chr16:75528920-75528970	H1-hESC	embryonic stem cell:	embryo
39	chr16:75528920-75528970	NB4	blood:	n/a
40	chr16:75528920-75528970	HCM	heart:	n/a
41	chr16:75528920-75528970	SK-N-MC	brain:	n/a
42	chr16:75528920-75528970	MCF10A-Er-Src	breast:	n/a
43	chr16:75528920-75528970	U87	brain:	n/a
44	chr16:75528920-75528970	HEK293	kidney:	embryo
45	chr16:75528920-75528970	T-47D	breast:	n/a
46	chr16:75528920-75528970	LNCaP	prostate:	n/a
47	chr16:75528920-75528970	Hepatocyte	liver:	n/a
48	chr16:75528920-75528970	AG04449	skin:	fetal
49	chr16:75528920-75528970	HCF	heart:	n/a
50	chr16:75528920-75528970	A549	lung:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:75527053..75529439-chr16:75537012..75541443,4	K562	blood:

No data

Variant related genes	Relation type
CHST6	TF binding region
CHST6	CpG island
ENSG00000262583	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	esv2758432	chr16:75419614-75576971	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	esv2758657	chr16:75419614-75576971	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv525955	chr16:75473332-75628345	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv457521	chr16:75487758-75603925	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
9	nsv572979	chr16:75487758-75603925	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
10	esv3485939	chr16:75497453-75550284	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
11	esv3485940	chr16:75497453-75550284	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
12	nsv572980	chr16:75505046-75549885	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	esv3313995	chr16:75512166-75566404	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	esv3313996	chr16:75512166-75566404	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv532561	chr16:75519574-75636977	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
16	nsv572981	chr16:75521030-75581160	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv1059777	chr16:75522954-75572713	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	nsv516675	chr16:75528511-75572012	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	nsv906914	chr16:75528511-75573884	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
20	nsv906915	chr16:75528511-75574729	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
21	nsv906916	chr16:75528511-75579233	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
22	nsv906917	chr16:75528511-75581160	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75526200-75529000	Weak transcription	A549	lung
2	chr16:75526800-75531600	Weak transcription	Hela-S3	cervix
3	chr16:75528000-75529200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr16:75528200-75529000	Active TSS	Psoas Muscle	Psoas
5	chr16:75528200-75529200	Enhancers	Lung	lung
6	chr16:75528200-75529200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
7	chr16:75528200-75529200	Flanking Bivalent TSS/Enh	HepG2	liver
8	chr16:75528200-75529400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr16:75528200-75529400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:75528200-75529400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr16:75528200-75529400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr16:75528200-75529400	Active TSS	Brain Angular Gyrus	brain
13	chr16:75528200-75529400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
14	chr16:75528200-75529600	Active TSS	H9 Cell Line	embryonic stem cell
15	chr16:75528200-75529600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr16:75528400-75529000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr16:75528400-75529000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:75528400-75529000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr16:75528400-75529000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
20	chr16:75528400-75529200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr16:75528400-75529200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr16:75528400-75529200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr16:75528400-75529200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
24	chr16:75528400-75529200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
25	chr16:75528400-75529200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
26	chr16:75528400-75529200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
27	chr16:75528400-75529200	Flanking Active TSS	Right Ventricle	heart
28	chr16:75528400-75529200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
29	chr16:75528400-75529400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:75528400-75529400	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr16:75528400-75529400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr16:75528400-75529400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
33	chr16:75528400-75529400	Active TSS	Aorta	Aorta
34	chr16:75528400-75529400	Active TSS	Brain Substantia Nigra	brain
35	chr16:75528400-75529400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
36	chr16:75528400-75529400	Enhancers	Pancreas	Pancrea
37	chr16:75528400-75529400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
38	chr16:75528400-75529400	Flanking Active TSS	HMEC	breast
39	chr16:75528400-75529400	Bivalent/Poised TSS	NHEK	skin
40	chr16:75528400-75529600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr16:75528400-75529600	Active TSS	H1 Cell Line	embryonic stem cell
42	chr16:75528400-75529600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr16:75528400-75529600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr16:75528400-75529600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr16:75528400-75529600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr16:75528400-75529600	Bivalent Enhancer	Fetal Brain Male	brain
47	chr16:75528600-75529000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr16:75528600-75529000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
49	chr16:75528600-75529000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr16:75528600-75529000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood

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