Variant report

Variant	rs72819626
Chromosome Location	chr17:38609002-38609003
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38608476..38611175-chr17:38612841..38616006,3	K562	blood:
2	chr17:38604732..38607075-chr17:38608237..38609916,2	K562	blood:
3	chr17:38608604..38610880-chr17:38615164..38617497,2	K562	blood:
4	chr17:38607923..38609652-chr17:38674937..38677033,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10305293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10305297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10305302	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10305316	1.00[EUR][1000 genomes]
rs35464732	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35685936	0.83[AFR][1000 genomes]
rs72819623	1.00[EUR][1000 genomes]
rs72819624	1.00[EUR][1000 genomes]
rs72819628	1.00[EUR][1000 genomes]
rs72819631	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72819632	1.00[EUR][1000 genomes]
rs72819633	1.00[EUR][1000 genomes]
rs9303287	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9895336	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv908223	chr17:38530799-38609187	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38600200-38609800	Transcr. at gene 5' and 3'	A549	lung
2	chr17:38600800-38613800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:38601800-38612600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:38601800-38614000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr17:38602000-38609200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:38602200-38609200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr17:38602200-38609600	Weak transcription	Brain Germinal Matrix	brain
8	chr17:38602200-38610400	Weak transcription	Primary B cells from cord blood	blood
9	chr17:38602200-38614000	Weak transcription	Fetal Brain Female	brain
10	chr17:38602200-38614400	Weak transcription	Brain Angular Gyrus	brain
11	chr17:38603200-38609400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr17:38603400-38611000	Weak transcription	Psoas Muscle	Psoas
13	chr17:38603600-38610200	Genic enhancers	Fetal Stomach	stomach
14	chr17:38604800-38610600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr17:38605000-38609200	Enhancers	Left Ventricle	heart
16	chr17:38605000-38609600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr17:38605000-38610000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr17:38605000-38614800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr17:38605200-38609200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr17:38605200-38609200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr17:38605200-38609600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr17:38605200-38611000	Genic enhancers	Muscle Satellite Cultured Cells	--
23	chr17:38605200-38614400	Weak transcription	Thymus	Thymus
24	chr17:38605400-38609200	Weak transcription	HMEC	breast
25	chr17:38605400-38613200	Weak transcription	Fetal Thymus	thymus
26	chr17:38605400-38616800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr17:38605600-38609200	Enhancers	Duodenum Mucosa	Duodenum
28	chr17:38605600-38609200	Weak transcription	Gastric	stomach
29	chr17:38605600-38610200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr17:38605600-38612200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr17:38606400-38609400	Enhancers	Right Atrium	heart
32	chr17:38606400-38616400	Weak transcription	K562	blood
33	chr17:38606600-38609200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr17:38606600-38609200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr17:38606600-38609400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr17:38606600-38609800	Weak transcription	HepG2	liver
37	chr17:38606600-38612400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr17:38606600-38614400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr17:38606600-38617400	Weak transcription	Small Intestine	intestine
40	chr17:38607000-38609400	Enhancers	NH-A	brain
41	chr17:38607000-38611000	Genic enhancers	Lung	lung
42	chr17:38607000-38615000	Genic enhancers	Liver	Liver
43	chr17:38607200-38610400	Genic enhancers	Fetal Muscle Leg	muscle
44	chr17:38607600-38618400	Genic enhancers	NHLF	lung
45	chr17:38607800-38610600	Weak transcription	Fetal Kidney	kidney
46	chr17:38607800-38611200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr17:38607800-38614000	Weak transcription	Brain Hippocampus Middle	brain
48	chr17:38607800-38615400	Strong transcription	HUVEC	blood vessel
49	chr17:38608000-38610400	Genic enhancers	Fetal Muscle Trunk	muscle
50	chr17:38608200-38609400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland

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