Variant report

Variant	rs62060597
Chromosome Location	chr16:47190780-47190781
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:47174837..47177337-chr16:47189035..47191316,2	K562	blood:
2	chr16:47189381..47191014-chr16:47191815..47193762,2	K562	blood:
3	chr16:47177997..47179501-chr16:47190203..47192834,2	K562	blood:

Variant related genes	Relation type
ENSG00000260281	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs62060609	1.00[AFR][1000 genomes]
rs62060612	1.00[AFR][1000 genomes]
rs62060616	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	esv1798659	chr16:47083332-47234379	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv1823679	chr16:47089357-47194051	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	esv1795199	chr16:47111119-47732476	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv1803802	chr16:47115776-47367144	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv906660	chr16:47123724-47347780	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1059763	chr16:47147194-47373834	ZNF genes & repeats Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv528423	chr16:47163874-47347780	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	esv1821100	chr16:47171333-47330244	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	esv1795577	chr16:47177234-47194051	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
12	esv1798540	chr16:47177234-47194051	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
13	esv1806675	chr16:47177234-47194051	ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
14	esv1816287	chr16:47177234-47194051	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
15	esv1801639	chr16:47177234-47224693	Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
16	esv1801751	chr16:47177234-47224693	Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
17	esv1838902	chr16:47177234-47234379	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
18	esv1850542	chr16:47177234-47234379	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
19	esv1795119	chr16:47177300-47224693	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
20	esv1841006	chr16:47177300-47271876	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
21	esv1848820	chr16:47177300-47271876	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
22	esv1799115	chr16:47177338-47224693	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
23	esv1801259	chr16:47188507-47252682	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47178800-47194400	Weak transcription	NHLF	lung
2	chr16:47178800-47195200	Weak transcription	Gastric	stomach
3	chr16:47178800-47196200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr16:47178800-47196200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr16:47178800-47196200	Weak transcription	Esophagus	oesophagus
6	chr16:47178800-47196400	Weak transcription	Fetal Brain Female	brain
7	chr16:47178800-47197200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr16:47178800-47197200	Weak transcription	HSMMtube	muscle
9	chr16:47178800-47198200	Weak transcription	Right Ventricle	heart
10	chr16:47178800-47198400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:47178800-47211600	Weak transcription	Pancreas	Pancrea
12	chr16:47178800-47231400	Weak transcription	Psoas Muscle	Psoas
13	chr16:47178800-47296600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr16:47179000-47194000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr16:47179000-47197600	Weak transcription	Osteobl	bone
16	chr16:47179000-47204600	Weak transcription	Brain Angular Gyrus	brain
17	chr16:47179200-47191600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr16:47180200-47197000	Weak transcription	Colon Smooth Muscle	Colon
19	chr16:47181000-47192400	Weak transcription	NHDF-Ad	bronchial
20	chr16:47181400-47190800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr16:47182000-47197000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr16:47182600-47192800	Weak transcription	Colonic Mucosa	Colon
23	chr16:47184400-47190800	Weak transcription	Spleen	Spleen
24	chr16:47184600-47197000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr16:47185200-47191200	Weak transcription	Stomach Mucosa	stomach
26	chr16:47185800-47195600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr16:47186400-47192600	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr16:47186600-47193000	Weak transcription	Lung	lung
29	chr16:47186600-47194000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr16:47186600-47231400	Weak transcription	Aorta	Aorta
31	chr16:47186800-47194400	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr16:47186800-47196800	Weak transcription	Small Intestine	intestine
33	chr16:47187200-47193600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr16:47187200-47194600	Weak transcription	GM12878-XiMat	blood
35	chr16:47187200-47195800	Weak transcription	Fetal Kidney	kidney
36	chr16:47187400-47191200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr16:47187400-47192000	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr16:47187400-47194200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr16:47187400-47216200	Weak transcription	HepG2	liver
40	chr16:47187400-47216400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr16:47187600-47196800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr16:47187800-47190800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr16:47187800-47190800	Weak transcription	Fetal Lung	lung
44	chr16:47187800-47191000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr16:47187800-47192000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr16:47187800-47193400	Weak transcription	Fetal Intestine Large	intestine
47	chr16:47187800-47193600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr16:47187800-47197200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr16:47187800-47199600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr16:47187800-47199800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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