Variant report

Variant	rs575606389
Chromosome Location	chr17:16140407-16140408
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv522169	chr17:15923709-16147821	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv907715	chr17:16019978-16206540	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
7	nsv907717	chr17:16076898-16239832	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
8	nsv907718	chr17:16080849-16143709	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
9	nsv528263	chr17:16097430-16196996	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
10	esv3326983	chr17:16138963-16210147	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16121000-16163200	Weak transcription	Spleen	Spleen
2	chr17:16121200-16141400	Weak transcription	Brain Substantia Nigra	brain
3	chr17:16121200-16142800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr17:16121200-16157000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr17:16121200-16158800	Weak transcription	Left Ventricle	heart
6	chr17:16121200-16159800	Weak transcription	Lung	lung
7	chr17:16121200-16163000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr17:16121400-16141400	Weak transcription	Colon Smooth Muscle	Colon
9	chr17:16121400-16158600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr17:16121400-16158800	Weak transcription	Fetal Muscle Leg	muscle
11	chr17:16121400-16159000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr17:16121400-16170600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr17:16121600-16143000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr17:16121600-16143000	Weak transcription	Fetal Lung	lung
15	chr17:16121600-16147000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr17:16121600-16150200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr17:16121600-16151800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr17:16121600-16158400	Weak transcription	Brain Hippocampus Middle	brain
19	chr17:16121600-16158600	Weak transcription	Brain Germinal Matrix	brain
20	chr17:16121800-16146600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr17:16121800-16150200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr17:16121800-16153600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr17:16121800-16158200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr17:16121800-16158400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr17:16121800-16163200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr17:16121800-16163200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr17:16122000-16163400	Weak transcription	Fetal Brain Female	brain
28	chr17:16122200-16146800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr17:16122200-16150200	Weak transcription	Liver	Liver
30	chr17:16123000-16154200	Weak transcription	Ovary	ovary
31	chr17:16124200-16158200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr17:16126200-16163200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr17:16126200-16163400	Weak transcription	Primary B cells from cord blood	blood
34	chr17:16126400-16158800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr17:16126600-16153800	Weak transcription	A549	lung
36	chr17:16127600-16158600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr17:16127800-16147000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr17:16130400-16146000	Weak transcription	K562	blood
39	chr17:16130400-16147000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr17:16132200-16140800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr17:16132200-16163200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr17:16132400-16144800	Weak transcription	HepG2	liver
43	chr17:16132400-16163600	Weak transcription	HSMM	muscle
44	chr17:16132600-16147000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr17:16133200-16147000	Weak transcription	NH-A	brain
46	chr17:16133200-16153800	Weak transcription	Hela-S3	cervix
47	chr17:16133400-16146800	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr17:16133800-16143800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr17:16133800-16163000	Weak transcription	Fetal Thymus	thymus
50	chr17:16133800-16176200	Weak transcription	NHEK	skin

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