Variant report

Variant	rs8048636
Chromosome Location	chr16:65157646-65157647
allele	C/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	CTCF	chr16:65157580-65157730	HUVEC	blood vessel:	n/a	n/a
2	CTCF	chr16:65157560-65157710	HFF	foreskin:	n/a	n/a
3	CTCF	chr16:65157567-65157705	Fibrobl	skin:	n/a	n/a
4	CTCF	chr16:65157500-65157650	HMEC	breast:	n/a	n/a
5	MAX	chr16:65156739-65157853	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr16:65155631-65157907	Gliobla	brain:	n/a	n/a
7	POLR2A	chr16:65153328-65158908	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr16:65155441-65158226	ProgFib	skin:	n/a	n/a
9	CHD1	chr16:65152687-65158782	IMR90	lung:	n/a	chr16:65156166-65156176 chr16:65155683-65155693 chr16:65156605-65156615
10	CTCF	chr16:65157575-65157737	ProgFib	skin:	n/a	n/a
11	RAD21	chr16:65153778-65158085	IMR90	lung:	n/a	chr16:65155818-65155832 chr16:65156665-65156677 chr16:65155554-65155564 chr16:65156169-65156179
12	POLR2A	chr16:65152756-65159285	IMR90	lung:	n/a	n/a
13	MAX	chr16:65156749-65157810	SK-N-SH	brain:	n/a	n/a
14	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
15	CTCF	chr16:65157593-65157707	NHEK	skin:	n/a	n/a
16	BACH1	chr16:65156827-65157833	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr16:65157520-65157670	AG04449	skin:	n/a	n/a
18	RAD21	chr16:65156743-65157779	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr16:65157540-65157690	SAEC	small airway:	n/a	n/a
20	CTCF	chr16:65157620-65157770	WERI-Rb-1	eye:	n/a	n/a
21	CTCF	chr16:65157592-65157702	Gliobla	brain:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TK2-12	chr16:65157577-65158091	NONHSAT142964
2	lnc-TK2-12	chr16:65157577-65157723	NONHSAT142961

Variant related genes	Relation type
CDH11	TF binding region

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

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

rs_ID	r²[population]
rs34069359	0.80[EUR][1000 genomes]
rs4075431	0.80[EUR][1000 genomes]
rs57976310	0.80[EUR][1000 genomes]
rs7190182	0.80[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:91 , 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	chr16:65153400-65158600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
6	chr16:65153600-65157800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr16:65153600-65158000	Active TSS	HSMM	muscle
8	chr16:65153600-65158000	Active TSS	HSMMtube	muscle
9	chr16:65153600-65158000	Active TSS	NHDF-Ad	bronchial
10	chr16:65153800-65157800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:65153800-65158000	Active TSS	Aorta	Aorta
12	chr16:65153800-65158200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr16:65153800-65158200	Active TSS	Brain Cingulate Gyrus	brain
14	chr16:65153800-65158400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr16:65154000-65157800	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr16:65154000-65158000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
17	chr16:65154000-65158400	Active TSS	Brain Anterior Caudate	brain
18	chr16:65154000-65158400	Active TSS	Brain Hippocampus Middle	brain
19	chr16:65154000-65158800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr16:65154200-65158000	Active TSS	Brain Angular Gyrus	brain
21	chr16:65154200-65158000	Active TSS	Right Atrium	heart
22	chr16:65154200-65158000	Active TSS	Osteobl	bone
23	chr16:65154200-65158200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr16:65154200-65158200	Active TSS	Rectal Smooth Muscle	rectum
25	chr16:65154200-65158400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr16:65154200-65158400	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr16:65154200-65158800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr16:65154400-65157800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
29	chr16:65154400-65157800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
30	chr16:65154400-65157800	Active TSS	Fetal Kidney	kidney
31	chr16:65154400-65158000	Active TSS	Colon Smooth Muscle	Colon
32	chr16:65154400-65158000	Active TSS	Placenta Amnion	Placenta Amnion
33	chr16:65154400-65159800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
34	chr16:65154600-65157800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr16:65154600-65158000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr16:65154600-65158000	Bivalent/Poised TSS	Placenta	Placenta
37	chr16:65154600-65158000	Bivalent/Poised TSS	Fetal Stomach	stomach
38	chr16:65154600-65158000	Bivalent/Poised TSS	Psoas Muscle	Psoas
39	chr16:65155600-65160000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr16:65156200-65158000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr16:65156200-65158000	Bivalent Enhancer	Liver	Liver
42	chr16:65156200-65158000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
43	chr16:65156200-65158000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
44	chr16:65156200-65158000	Flanking Active TSS	HMEC	breast
45	chr16:65156200-65158000	Flanking Active TSS	HUVEC	blood vessel
46	chr16:65156200-65158200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
47	chr16:65156400-65157800	Bivalent/Poised TSS	Fetal Thymus	thymus
48	chr16:65156400-65158000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
49	chr16:65156400-65158000	Flanking Bivalent TSS/Enh	NHEK	skin
50	chr16:65156600-65157800	Active TSS	Esophagus	oesophagus

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