Variant report

Variant	rs572693724
Chromosome Location	chr17:46156482-46156483
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46151387..46154136-chr17:46155917..46157796,2	K562	blood:
2	chr17:46102299..46104272-chr17:46156219..46158747,2	MCF-7	breast:
3	chr17:46156470..46158674-chr17:46175187..46178395,3	MCF-7	breast:
4	chr17:46124575..46126463-chr17:46156311..46157871,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000082641	Chromatin interaction
ENSG00000108468	Chromatin interaction
ENSG00000263412	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	esv1804681	chr17:46144628-46168544	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv908576	chr17:46147807-46260366	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
5	esv3316040	chr17:46155608-46161656	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3316042	chr17:46155663-46161710	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46133200-46157200	Strong transcription	Fetal Stomach	stomach
2	chr17:46139200-46162600	Weak transcription	Small Intestine	intestine
3	chr17:46139800-46162600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr17:46139800-46163600	Weak transcription	Esophagus	oesophagus
5	chr17:46140000-46162400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr17:46140800-46163200	Weak transcription	Colonic Mucosa	Colon
7	chr17:46142600-46162600	Weak transcription	Fetal Heart	heart
8	chr17:46143600-46157400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr17:46143800-46163200	Weak transcription	Aorta	Aorta
10	chr17:46144200-46157000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:46144400-46163000	Weak transcription	Psoas Muscle	Psoas
12	chr17:46144800-46177800	Weak transcription	Right Ventricle	heart
13	chr17:46146400-46158000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr17:46147800-46177600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr17:46148600-46156600	Strong transcription	Fetal Intestine Small	intestine
16	chr17:46149000-46178000	Weak transcription	Lung	lung
17	chr17:46149200-46162600	Weak transcription	Hela-S3	cervix
18	chr17:46151800-46157000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr17:46152400-46168200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr17:46152400-46177200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr17:46152600-46176800	Weak transcription	K562	blood
22	chr17:46152600-46177000	Weak transcription	HSMMtube	muscle
23	chr17:46153400-46170800	Weak transcription	HSMM	muscle
24	chr17:46153800-46162600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr17:46153800-46162600	Weak transcription	Fetal Brain Male	brain
26	chr17:46153800-46176800	Weak transcription	NHLF	lung
27	chr17:46154000-46162200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr17:46154000-46162400	Weak transcription	Colon Smooth Muscle	Colon
29	chr17:46154000-46163000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr17:46154000-46163200	Weak transcription	Pancreas	Pancrea
31	chr17:46154200-46162400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr17:46154200-46163000	Weak transcription	Adipose Nuclei	Adipose
33	chr17:46154200-46163000	Weak transcription	Brain Substantia Nigra	brain
34	chr17:46154200-46163200	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr17:46154200-46163600	Weak transcription	NHDF-Ad	bronchial
36	chr17:46154200-46176800	Weak transcription	HMEC	breast
37	chr17:46154200-46177600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr17:46154400-46158000	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr17:46154400-46162200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr17:46154400-46162200	Weak transcription	Fetal Kidney	kidney
41	chr17:46154400-46162400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr17:46154400-46162600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr17:46154400-46162600	Weak transcription	Liver	Liver
44	chr17:46154400-46162600	Weak transcription	Brain Hippocampus Middle	brain
45	chr17:46154400-46162600	Weak transcription	Gastric	stomach
46	chr17:46154400-46162600	Weak transcription	Ovary	ovary
47	chr17:46154400-46162600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr17:46154400-46162600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr17:46154400-46162600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr17:46154400-46162800	Weak transcription	Brain Germinal Matrix	brain

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