Variant report

Variant	rs72825512
Chromosome Location	chr17:46155069-46155070
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	chr17:46143868..46147268-chr17:46149730..46155245,6	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10514938	1.00[ASN][1000 genomes]
rs11650615	1.00[ASN][1000 genomes]
rs16952265	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16953235	1.00[ASN][1000 genomes]
rs16953382	1.00[ASN][1000 genomes]
rs16953461	1.00[ASN][1000 genomes]
rs16953925	1.00[ASN][1000 genomes]
rs16954078	1.00[ASN][1000 genomes]
rs16954204	1.00[ASN][1000 genomes]
rs41280120	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41336845	1.00[ASN][1000 genomes]
rs7216504	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823527	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823530	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823534	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823591	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823592	0.81[AMR][1000 genomes]
rs72823594	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72823599	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823601	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825504	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825517	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825548	1.00[ASN][1000 genomes]
rs72825584	1.00[ASN][1000 genomes]
rs8067005	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8073371	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46132600-46155200	Strong transcription	Fetal Thymus	thymus
2	chr17:46133000-46155200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr17:46133200-46157200	Strong transcription	Fetal Stomach	stomach
4	chr17:46133400-46155200	Strong transcription	Dnd41	blood
5	chr17:46135400-46155400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr17:46137400-46155200	Strong transcription	Fetal Muscle Trunk	muscle
7	chr17:46139200-46162600	Weak transcription	Small Intestine	intestine
8	chr17:46139800-46162600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr17:46139800-46163600	Weak transcription	Esophagus	oesophagus
10	chr17:46140000-46162400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr17:46140200-46156400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr17:46140800-46163200	Weak transcription	Colonic Mucosa	Colon
13	chr17:46142600-46162600	Weak transcription	Fetal Heart	heart
14	chr17:46143600-46157400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr17:46143800-46163200	Weak transcription	Aorta	Aorta
16	chr17:46144200-46157000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr17:46144400-46163000	Weak transcription	Psoas Muscle	Psoas
18	chr17:46144800-46177800	Weak transcription	Right Ventricle	heart
19	chr17:46145800-46155200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr17:46146400-46158000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr17:46147800-46177600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr17:46148600-46156600	Strong transcription	Fetal Intestine Small	intestine
23	chr17:46149000-46178000	Weak transcription	Lung	lung
24	chr17:46149200-46162600	Weak transcription	Hela-S3	cervix
25	chr17:46151800-46155200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr17:46151800-46157000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr17:46152400-46168200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr17:46152400-46177200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr17:46152600-46176800	Weak transcription	K562	blood
30	chr17:46152600-46177000	Weak transcription	HSMMtube	muscle
31	chr17:46153400-46170800	Weak transcription	HSMM	muscle
32	chr17:46153800-46162600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr17:46153800-46162600	Weak transcription	Fetal Brain Male	brain
34	chr17:46153800-46176800	Weak transcription	NHLF	lung
35	chr17:46154000-46162200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr17:46154000-46162400	Weak transcription	Colon Smooth Muscle	Colon
37	chr17:46154000-46163000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr17:46154000-46163200	Weak transcription	Pancreas	Pancrea
39	chr17:46154200-46162400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr17:46154200-46163000	Weak transcription	Adipose Nuclei	Adipose
41	chr17:46154200-46163000	Weak transcription	Brain Substantia Nigra	brain
42	chr17:46154200-46163200	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr17:46154200-46163600	Weak transcription	NHDF-Ad	bronchial
44	chr17:46154200-46176800	Weak transcription	HMEC	breast
45	chr17:46154200-46177600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr17:46154400-46158000	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr17:46154400-46162200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr17:46154400-46162200	Weak transcription	Fetal Kidney	kidney
49	chr17:46154400-46162400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr17:46154400-46162600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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