Variant report

Variant	rs6498981
Chromosome Location	chr16:65157443-65157444
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr16:65156739-65157853	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr16:65155631-65157907	Gliobla	brain:	n/a	n/a
3	POLR2A	chr16:65153328-65158908	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr16:65155441-65158226	ProgFib	skin:	n/a	n/a
5	CHD1	chr16:65152687-65158782	IMR90	lung:	n/a	chr16:65156166-65156176 chr16:65155683-65155693 chr16:65156605-65156615
6	RAD21	chr16:65153778-65158085	IMR90	lung:	n/a	chr16:65155818-65155832 chr16:65156665-65156677 chr16:65155554-65155564 chr16:65156169-65156179
7	POLR2A	chr16:65152756-65159285	IMR90	lung:	n/a	n/a
8	MAX	chr16:65156749-65157810	SK-N-SH	brain:	n/a	n/a
9	MAZ	chr16:65153355-65158656	IMR90	lung:	n/a	chr16:65158234-65158244 chr16:65158234-65158244 chr16:65156222-65156231 chr16:65158230-65158245 chr16:65158232-65158245 chr16:65158235-65158244 chr16:65158233-65158244
10	BACH1	chr16:65156827-65157833	H1-hESC	embryonic stem cell:	n/a	n/a
11	RAD21	chr16:65156743-65157779	SK-N-SH_RA	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:65157428-65157478	LNCaP	prostate:	n/a
2	chr16:65157428-65157478	HepG2	liver:	n/a
3	chr16:65157428-65157478	IMR90	lung:	fetal
4	chr16:65157428-65157478	HL-60	blood:	n/a
5	chr16:65157428-65157478	Hepatocyte	liver:	n/a
6	chr16:65157428-65157478	HMEC	breast:	n/a
7	chr16:65157428-65157478	HUVEC	blood vessel:	n/a
8	chr16:65157428-65157478	AG04449	skin:	fetal
9	chr16:65157428-65157478	U87	brain:	n/a
10	chr16:65157428-65157478	CMK	blood:	n/a
11	chr16:65157428-65157478	Caco-2	colon:	n/a
12	chr16:65157428-65157478	RPTEC	kidney:	n/a
13	chr16:65157428-65157478	HCPEpiC	choroid plexus:	n/a
14	chr16:65157428-65157478	ProgFib	skin:	n/a
15	chr16:65157428-65157478	HCF	heart:	n/a
16	chr16:65157428-65157478	AG09309	skin:	n/a
17	chr16:65157428-65157478	HNPCEpiC	eye:	n/a
18	chr16:65157428-65157478	SKMC	muscle:	n/a
19	chr16:65157428-65157478	HAEpiC	amniotic membrane:	n/a
20	chr16:65157428-65157478	HPAEpiC	pulmonary alveolar:	n/a
21	chr16:65157428-65157478	HRPEpiC	eye:	n/a
22	chr16:65157428-65157478	SK-N-MC	brain:	n/a
23	chr16:65157428-65157478	PANC-1	pancreas:	n/a
24	chr16:65157428-65157478	NHBE	bronchial:	n/a
25	chr16:65157428-65157478	MCF-7	breast:	n/a
26	chr16:65157428-65157478	HCM	heart:	n/a
27	chr16:65157428-65157478	HEEpiC	esophagus:	n/a
28	chr16:65157428-65157478	GM06990	blood:	n/a
29	chr16:65157428-65157478	HEK293	kidney:	embryo
30	chr16:65157428-65157478	NH-A	brain:	n/a
31	chr16:65157428-65157478	PrEC	prostate:	n/a
32	chr16:65157428-65157478	HRCEpiC	kidney:	n/a
33	chr16:65157428-65157478	NHDF-neo	bronchial:	n/a
34	chr16:65157428-65157478	Jurkat	blood:	n/a
35	chr16:65157428-65157478	HRE	kidney:	n/a
36	chr16:65157428-65157478	PFSK-1	brain:	n/a
37	chr16:65157428-65157478	HIPEpiC	eye:	n/a
38	chr16:65157428-65157478	SAEC	small airway:	n/a
39	chr16:65157428-65157478	AG04450	lung:	fetal
40	chr16:65157428-65157478	A549	lung:	n/a
41	chr16:65157428-65157478	Hela-S3	cervix:	n/a
42	chr16:65157428-65157478	AoSMC	blood vessel:	n/a
43	chr16:65157428-65157478	GM19239	blood:	n/a
44	chr16:65157428-65157478	AG10803	skin:	n/a
45	chr16:65157428-65157478	GM12892	blood:	n/a
46	chr16:65157428-65157478	NB4	blood:	n/a
47	chr16:65157428-65157478	AG09319	gingival:	n/a
48	chr16:65157428-65157478	SK-N-SH_RA	brain:	n/a
49	chr16:65157428-65157478	BJ	skin:	n/a
50	chr16:65157428-65157478	BE2_C	brain:	n/a

No data

Variant related genes	Relation type
CDH11	TF binding region
CDH11	CpG island

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17510737	0.86[ASN][1000 genomes]
rs4048780	0.82[AMR][1000 genomes]
rs6498980	0.87[AFR][1000 genomes]
rs6498983	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:65152000-65159400	Active TSS	Ovary	ovary
2	chr16:65153200-65157800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr16:65153200-65158600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr16:65153200-65158600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr16:65153400-65157600	Active TSS	NHLF	lung
6	chr16:65153400-65158600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
7	chr16:65153600-65157800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr16:65153600-65158000	Active TSS	HSMM	muscle
9	chr16:65153600-65158000	Active TSS	HSMMtube	muscle
10	chr16:65153600-65158000	Active TSS	NHDF-Ad	bronchial
11	chr16:65153800-65157800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:65153800-65158000	Active TSS	Aorta	Aorta
13	chr16:65153800-65158200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr16:65153800-65158200	Active TSS	Brain Cingulate Gyrus	brain
15	chr16:65153800-65158400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr16:65154000-65157800	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr16:65154000-65158000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
18	chr16:65154000-65158400	Active TSS	Brain Anterior Caudate	brain
19	chr16:65154000-65158400	Active TSS	Brain Hippocampus Middle	brain
20	chr16:65154000-65158800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr16:65154200-65158000	Active TSS	Brain Angular Gyrus	brain
22	chr16:65154200-65158000	Active TSS	Right Atrium	heart
23	chr16:65154200-65158000	Active TSS	Osteobl	bone
24	chr16:65154200-65158200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr16:65154200-65158200	Active TSS	Rectal Smooth Muscle	rectum
26	chr16:65154200-65158400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr16:65154200-65158400	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr16:65154200-65158800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
29	chr16:65154400-65157600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
30	chr16:65154400-65157600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr16:65154400-65157600	Active TSS	Brain Substantia Nigra	brain
32	chr16:65154400-65157800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
33	chr16:65154400-65157800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
34	chr16:65154400-65157800	Active TSS	Fetal Kidney	kidney
35	chr16:65154400-65158000	Active TSS	Colon Smooth Muscle	Colon
36	chr16:65154400-65158000	Active TSS	Placenta Amnion	Placenta Amnion
37	chr16:65154400-65159800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
38	chr16:65154600-65157600	Active TSS	Left Ventricle	heart
39	chr16:65154600-65157600	Bivalent/Poised TSS	Thymus	Thymus
40	chr16:65154600-65157800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr16:65154600-65158000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr16:65154600-65158000	Bivalent/Poised TSS	Placenta	Placenta
43	chr16:65154600-65158000	Bivalent/Poised TSS	Fetal Stomach	stomach
44	chr16:65154600-65158000	Bivalent/Poised TSS	Psoas Muscle	Psoas
45	chr16:65154800-65157600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
46	chr16:65155200-65157600	Active TSS	Right Ventricle	heart
47	chr16:65155400-65157600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr16:65155600-65160000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr16:65156200-65158000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr16:65156200-65158000	Bivalent Enhancer	Liver	Liver

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