Variant report

Variant	rs4258623
Chromosome Location	chr16:71197247-71197248
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71186848..71188995-chr16:71196832..71198957,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28663037	0.86[ASN][1000 genomes]
rs6499489	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8063809	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs987958	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061191	chr16:70754975-71201367	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv1059478	chr16:70773597-71237055	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	esv2758429	chr16:70807122-71316983	Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	esv2758653	chr16:70807122-71316983	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	esv2757641	chr16:70833949-71200049	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	esv2446050	chr16:70845377-71202717	Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	esv2762121	chr16:70846071-71202797	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	esv2763140	chr16:70846071-71202797	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	esv18746	chr16:70847248-71202529	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	nsv977996	chr16:70848125-71201713	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv1067462	chr16:70848374-71201367	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv542943	chr16:70848374-71201367	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	nsv1059620	chr16:70848374-71237055	Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	nsv542944	chr16:70848374-71237055	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
15	nsv870263	chr16:70848593-71201134	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
16	nsv1063374	chr16:70855190-71205896	Bivalent Enhancer Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
17	nsv1056436	chr16:70887374-71201367	Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
18	nsv1063878	chr16:70914539-71201367	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
19	nsv542945	chr16:70914539-71201367	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
20	nsv1060754	chr16:71008303-71276778	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
21	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71192200-71201400	Weak transcription	Brain Angular Gyrus	brain
2	chr16:71194200-71199200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr16:71194200-71216200	Weak transcription	Brain Anterior Caudate	brain
4	chr16:71194400-71197400	Strong transcription	Stomach Smooth Muscle	stomach
5	chr16:71194400-71197600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr16:71194400-71197800	Strong transcription	Fetal Intestine Large	intestine
7	chr16:71194400-71198400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr16:71194400-71199000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr16:71194600-71199200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr16:71194600-71199600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr16:71194800-71198000	Strong transcription	Duodenum Smooth Muscle	Duodenum
12	chr16:71195000-71200200	Enhancers	Dnd41	blood
13	chr16:71195000-71203600	Weak transcription	Fetal Lung	lung
14	chr16:71195400-71198000	Weak transcription	Left Ventricle	heart
15	chr16:71195400-71199200	Strong transcription	Brain Germinal Matrix	brain
16	chr16:71195400-71199400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr16:71195400-71202000	Strong transcription	Fetal Brain Female	brain
18	chr16:71195400-71202000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr16:71195600-71197400	Weak transcription	Pancreas	Pancrea
20	chr16:71195600-71206600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr16:71195800-71197400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr16:71195800-71197400	Weak transcription	Fetal Stomach	stomach
23	chr16:71195800-71199200	Weak transcription	Colon Smooth Muscle	Colon
24	chr16:71195800-71199600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr16:71195800-71206200	Weak transcription	Fetal Brain Male	brain
26	chr16:71196000-71197400	Weak transcription	Fetal Intestine Small	intestine
27	chr16:71196000-71199000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr16:71196000-71199600	Weak transcription	Aorta	Aorta
29	chr16:71196000-71199600	Weak transcription	Brain Substantia Nigra	brain
30	chr16:71196000-71201400	Weak transcription	Ovary	ovary
31	chr16:71196000-71203800	Weak transcription	Brain Hippocampus Middle	brain
32	chr16:71196600-71218800	Weak transcription	Fetal Kidney	kidney

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