Variant report

Variant	rs527480624
Chromosome Location	chr16:65155992-65155993
allele	A/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	chr16:65155662-65156578	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr16:65155880-65156030	AG04450	lung:	n/a	n/a
3	CTCF	chr16:65155933-65156002	H1-hESC	embryonic stem cell:	n/a	n/a
4	EP300	chr16:65155587-65157421	SK-N-SH	brain:	n/a	chr16:65155889-65155905 chr16:65156220-65156236 chr16:65155952-65155961 chr16:65155903-65155912 chr16:65157375-65157389 chr16:65155947-65155963 chr16:65155945-65155961 chr16:65156144-65156153
5	CTCF	chr16:65155880-65156030	HMEC	breast:	n/a	n/a
6	CTCF	chr16:65155860-65156010	AoAF	blood vessel:	n/a	n/a
7	POLR2A	chr16:65155762-65156011	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr16:65155706-65156009	SK-N-MC	brain:	n/a	n/a
9	CTCF	chr16:65155771-65156393	IMR90	lung:	n/a	chr16:65156172-65156181
10	SIN3AK20	chr16:65155679-65156579	SK-N-SH	brain:	n/a	n/a
11	CTCF	chr16:65155920-65156070	HUVEC	blood vessel:	n/a	n/a
12	CTCF	chr16:65155860-65156010	SK-N-SH_RA	brain:	n/a	n/a
13	TEAD4	chr16:65155568-65157248	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr16:65154676-65156338	H1-neurons	neurons:	n/a	n/a
15	SIN3AK20	chr16:65155753-65156007	PFSK-1	brain:	n/a	n/a
16	CTCF	chr16:65155880-65156033	NHEK	skin:	n/a	n/a
17	ZNF143	chr16:65154752-65156016	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr16:65155880-65156030	HCM	heart:	n/a	n/a
19	CTCF	chr16:65155860-65156010	WERI-Rb-1	eye:	n/a	n/a
20	MAX	chr16:65155502-65156560	SK-N-SH	brain:	n/a	chr16:65156222-65156231
21	POLR2A	chr16:65155631-65157907	Gliobla	brain:	n/a	n/a
22	CTCF	chr16:65155860-65156010	SAEC	small airway:	n/a	n/a
23	CTCF	chr16:65155900-65156050	HRPEpiC	eye:	n/a	n/a
24	CTCF	chr16:65155900-65156050	HVMF	connective:	n/a	n/a
25	MAX	chr16:65155625-65156478	H1-hESC	embryonic stem cell:	n/a	chr16:65156222-65156231
26	BACH1	chr16:65155487-65156279	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr16:65155633-65156391	HUVEC	blood vessel:	n/a	n/a
28	CTCF	chr16:65155898-65156011	SK-N-SH_RA	brain:	n/a	n/a
29	SIN3A	chr16:65154662-65157390	H1-hESC	embryonic stem cell:	n/a	chr16:65154896-65154907 chr16:65154827-65154840
30	POLR2A	chr16:65153328-65158908	SK-N-MC	brain:	n/a	n/a
31	CTCF	chr16:65155860-65156010	HCFaa	heart:	n/a	n/a
32	POLR2A	chr16:65155441-65158226	ProgFib	skin:	n/a	n/a
33	CTCF	chr16:65155860-65156010	HPF	lung:	n/a	n/a
34	REST	chr16:65155318-65156930	H1-neurons	neurons:	n/a	chr16:65156582-65156602 chr16:65155916-65155936 chr16:65155920-65155933
35	CTCF	chr16:65155860-65156010	AG04449	skin:	n/a	n/a
36	CTCF	chr16:65155900-65156050	NHLF	lung:	n/a	n/a
37	RAD21	chr16:65155815-65156089	SK-N-SH_RA	brain:	n/a	chr16:65155818-65155832
38	CTCF	chr16:65155880-65156030	BJ	skin:	n/a	n/a
39	CTCF	chr16:65155900-65156050	HAc	cerebellar:	n/a	n/a
40	CTCF	chr16:65155900-65156050	AG09319	gingival:	n/a	n/a
41	CHD1	chr16:65152687-65158782	IMR90	lung:	n/a	chr16:65156166-65156176 chr16:65155683-65155693 chr16:65156605-65156615
42	POLR2A	chr16:65154592-65156180	H1-neurons	neurons:	n/a	n/a
43	POLR2A	chr16:65155681-65157427	HUVEC	blood vessel:	n/a	n/a
44	CTCF	chr16:65155860-65156010	HCPEpiC	choroid plexus:	n/a	n/a
45	TAF1	chr16:65155683-65156173	H1-neurons	neurons:	n/a	n/a
46	TAF1	chr16:65155821-65156435	SK-N-SH	brain:	n/a	n/a
47	CTCF	chr16:65155920-65156070	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr16:65155860-65156010	AG10803	skin:	n/a	n/a
49	CTCF	chr16:65155873-65156022	Pancreas_OC	pancreas:	n/a	n/a
50	EP300	chr16:65155838-65156113	SK-N-SH_RA	brain:	n/a	chr16:65155889-65155905 chr16:65155952-65155961 chr16:65155903-65155912 chr16:65155947-65155963 chr16:65155945-65155961

Variant related genes	Relation type
CDH11	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833260	chr16:65050647-65218759	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv34131	chr16:65137094-65379496	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv3356783	chr16:65154876-65157424	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:65152000-65159400	Active TSS	Ovary	ovary
2	chr16:65153200-65156400	Active TSS	Stomach Smooth Muscle	stomach
3	chr16:65153200-65156600	Active TSS	NH-A	brain
4	chr16:65153200-65157800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr16:65153200-65158600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr16:65153200-65158600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr16:65153400-65156200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr16:65153400-65156400	Bivalent/Poised TSS	Fetal Lung	lung
9	chr16:65153400-65157600	Active TSS	NHLF	lung
10	chr16:65153400-65158600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
11	chr16:65153600-65156200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr16:65153600-65157800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr16:65153600-65158000	Active TSS	HSMM	muscle
14	chr16:65153600-65158000	Active TSS	HSMMtube	muscle
15	chr16:65153600-65158000	Active TSS	NHDF-Ad	bronchial
16	chr16:65153800-65156400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
17	chr16:65153800-65156400	Bivalent/Poised TSS	NHEK	skin
18	chr16:65153800-65157800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr16:65153800-65158000	Active TSS	Aorta	Aorta
20	chr16:65153800-65158200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr16:65153800-65158200	Active TSS	Brain Cingulate Gyrus	brain
22	chr16:65153800-65158400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr16:65154000-65156600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr16:65154000-65157800	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr16:65154000-65158000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
26	chr16:65154000-65158400	Active TSS	Brain Anterior Caudate	brain
27	chr16:65154000-65158400	Active TSS	Brain Hippocampus Middle	brain
28	chr16:65154000-65158800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr16:65154200-65156000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr16:65154200-65156200	Active TSS	HMEC	breast
31	chr16:65154200-65158000	Active TSS	Brain Angular Gyrus	brain
32	chr16:65154200-65158000	Active TSS	Right Atrium	heart
33	chr16:65154200-65158000	Active TSS	Osteobl	bone
34	chr16:65154200-65158200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr16:65154200-65158200	Active TSS	Rectal Smooth Muscle	rectum
36	chr16:65154200-65158400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr16:65154200-65158400	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr16:65154200-65158800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
39	chr16:65154400-65156200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
40	chr16:65154400-65157600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
41	chr16:65154400-65157600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr16:65154400-65157600	Active TSS	Brain Substantia Nigra	brain
43	chr16:65154400-65157800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
44	chr16:65154400-65157800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
45	chr16:65154400-65157800	Active TSS	Fetal Kidney	kidney
46	chr16:65154400-65158000	Active TSS	Colon Smooth Muscle	Colon
47	chr16:65154400-65158000	Active TSS	Placenta Amnion	Placenta Amnion
48	chr16:65154400-65159800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
49	chr16:65154600-65156000	Bivalent/Poised TSS	Small Intestine	intestine
50	chr16:65154600-65156200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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