Variant report

Variant	rs142298325
Chromosome Location	chr16:75532507-75532508
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:75532464-75532514	HIPEpiC	eye:	n/a
2	chr16:75532464-75532514	LNCaP	prostate:	n/a
3	chr16:75532464-75532514	GM12878	blood:	n/a
4	chr16:75532464-75532514	Hepatocyte	liver:	n/a
5	chr16:75532464-75532514	SK-N-SH_RA	brain:	n/a
6	chr16:75532464-75532514	HNPCEpiC	eye:	n/a
7	chr16:75532464-75532514	AoSMC	blood vessel:	n/a
8	chr16:75532464-75532514	NHBE	bronchial:	n/a
9	chr16:75532464-75532514	HMEC	breast:	n/a
10	chr16:75532464-75532514	GM12891	blood:	n/a
11	chr16:75532464-75532514	K562	blood:	n/a
12	chr16:75532464-75532514	HCPEpiC	choroid plexus:	n/a
13	chr16:75532464-75532514	PFSK-1	brain:	n/a
14	chr16:75532464-75532514	NH-A	brain:	n/a
15	chr16:75532464-75532514	H1-hESC	embryonic stem cell:	embryo
16	chr16:75532464-75532514	Hela-S3	cervix:	n/a
17	chr16:75532464-75532514	MCF10A-Er-Src	breast:	n/a
18	chr16:75532464-75532514	SK-N-MC	brain:	n/a
19	chr16:75532464-75532514	AG04450	lung:	fetal
20	chr16:75532464-75532514	MCF-7	breast:	n/a
21	chr16:75532464-75532514	A549	lung:	n/a
22	chr16:75532464-75532514	Caco-2	colon:	n/a
23	chr16:75532464-75532514	BE2_C	brain:	n/a
24	chr16:75532464-75532514	U87	brain:	n/a
25	chr16:75532464-75532514	BJ	skin:	n/a
26	chr16:75532464-75532514	GM06990	blood:	n/a
27	chr16:75532464-75532514	HCT-116	colon:	n/a
28	chr16:75532464-75532514	SKMC	muscle:	n/a
29	chr16:75532464-75532514	HCF	heart:	n/a
30	chr16:75532464-75532514	SAEC	small airway:	n/a
31	chr16:75532464-75532514	HepG2	liver:	n/a
32	chr16:75532464-75532514	HRCEpiC	kidney:	n/a
33	chr16:75532464-75532514	ECC-1	luminal epithelium:	n/a
34	chr16:75532464-75532514	NHDF-neo	bronchial:	n/a
35	chr16:75532464-75532514	IMR90	lung:	fetal
36	chr16:75532464-75532514	PrEC	prostate:	n/a
37	chr16:75532464-75532514	RPTEC	kidney:	n/a
38	chr16:75532464-75532514	HRE	kidney:	n/a
39	chr16:75532464-75532514	GM12892	blood:	n/a
40	chr16:75532464-75532514	CMK	blood:	n/a
41	chr16:75532464-75532514	Jurkat	blood:	n/a
42	chr16:75532464-75532514	HUVEC	blood vessel:	n/a
43	chr16:75532464-75532514	T-47D	breast:	n/a
44	chr16:75532464-75532514	HL-60	blood:	n/a
45	chr16:75532464-75532514	AG09309	skin:	n/a
46	chr16:75532464-75532514	NT2-D1	testis:	n/a
47	chr16:75532464-75532514	SK-N-SH	brain:	n/a
48	chr16:75532464-75532514	ovcar-3	ovarian:	n/a
49	chr16:75532464-75532514	HAEpiC	amniotic membrane:	n/a
50	chr16:75532464-75532514	AG10803	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:75530551..75532986-chr16:75540003..75542944,2	K562	blood:

No data

Variant related genes	Relation type
CHST6	CpG island

Extended variants
information (count: 29 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:29 , 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
23	esv3509911	chr16:75531267-75573060	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
24	esv3509912	chr16:75531267-75573060	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
25	esv2647265	chr16:75532031-75573468	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
26	nsv906918	chr16:75532044-75573884	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
27	nsv906919	chr16:75532044-75579233	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
28	esv3430822	chr16:75532230-75572596	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
29	esv12902	chr16:75532377-75533032	Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75529400-75533600	Weak transcription	Left Ventricle	heart
2	chr16:75529400-75535200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr16:75529400-75535600	Weak transcription	Brain Substantia Nigra	brain
4	chr16:75529400-75550000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr16:75529600-75533400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr16:75529600-75535400	Weak transcription	Colon Smooth Muscle	Colon
7	chr16:75529600-75541800	Weak transcription	Right Atrium	heart
8	chr16:75529800-75537800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr16:75529800-75550200	Weak transcription	Spleen	Spleen
10	chr16:75530800-75533800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr16:75531200-75532800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr16:75531200-75532800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr16:75531200-75532800	Enhancers	Brain Hippocampus Middle	brain
14	chr16:75531400-75532800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr16:75531600-75532800	Enhancers	Fetal Heart	heart
16	chr16:75531800-75532600	Enhancers	Brain Anterior Caudate	brain
17	chr16:75531800-75532600	Enhancers	Stomach Smooth Muscle	stomach
18	chr16:75532000-75532600	Bivalent Enhancer	Fetal Brain Male	brain
19	chr16:75532200-75532600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr16:75532200-75532600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr16:75532200-75532600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr16:75532200-75532600	Enhancers	Aorta	Aorta
23	chr16:75532200-75532600	Enhancers	Brain Cingulate Gyrus	brain
24	chr16:75532200-75532600	Enhancers	HSMM	muscle
25	chr16:75532200-75532800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr16:75532200-75532800	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr16:75532200-75532800	Enhancers	Pancreas	Pancrea
28	chr16:75532200-75532800	Bivalent Enhancer	HepG2	liver
29	chr16:75532200-75533800	Enhancers	HMEC	breast
30	chr16:75532400-75532600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr16:75532400-75532600	Enhancers	Rectal Smooth Muscle	rectum
32	chr16:75532400-75532600	Enhancers	Hela-S3	cervix
33	chr16:75532400-75532600	Enhancers	HSMMtube	muscle
34	chr16:75532400-75532800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr16:75532400-75532800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr16:75532400-75532800	Enhancers	Fetal Lung	lung
37	chr16:75532400-75532800	Enhancers	Fetal Muscle Trunk	muscle
38	chr16:75532400-75532800	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr16:75532400-75535000	Weak transcription	Fetal Muscle Leg	muscle

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