Variant report

Variant	rs72819632
Chromosome Location	chr17:38617347-38617348
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38608604..38610880-chr17:38615164..38617497,2	K562	blood:
2	chr17:38616159..38619058-chr17:38623950..38625450,2	K562	blood:
3	chr17:38616795..38619778-chr17:38651196..38652807,2	K562	blood:
4	chr17:38612531..38614627-chr17:38615912..38617544,2	MCF-7	breast:
5	chr17:38615820..38617630-chr17:38655195..38658497,3	MCF-7	breast:
6	chr17:38615734..38617592-chr17:38618155..38620536,2	K562	blood:
7	chr17:38612055..38614566-chr17:38617242..38619590,2	K562	blood:
8	chr17:38615426..38618640-chr17:38688722..38692627,3	MCF-7	breast:
9	chr17:38595963..38598881-chr17:38617030..38618632,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000131746	Chromatin interaction
ENSG00000240125	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10305288	1.00[AFR][1000 genomes]
rs10305293	1.00[EUR][1000 genomes]
rs10305296	1.00[AFR][1000 genomes]
rs10305297	1.00[EUR][1000 genomes]
rs10305302	1.00[EUR][1000 genomes]
rs10305303	1.00[AFR][1000 genomes]
rs10305316	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12951693	1.00[ASN][1000 genomes]
rs15685	1.00[AFR][1000 genomes]
rs17557495	1.00[AFR][1000 genomes]
rs17557879	1.00[AFR][1000 genomes]
rs17618397	1.00[AFR][1000 genomes]
rs17679361	1.00[AFR][1000 genomes]
rs17680217	1.00[AFR][1000 genomes]
rs17680410	1.00[AFR][1000 genomes]
rs17680507	1.00[AFR][1000 genomes]
rs17680624	1.00[AFR][1000 genomes]
rs17680685	1.00[AFR][1000 genomes]
rs17680704	1.00[AFR][1000 genomes]
rs2012667	1.00[AFR][1000 genomes]
rs2229773	1.00[AFR][1000 genomes]
rs28362321	1.00[AFR][1000 genomes]
rs33998939	1.00[AFR][1000 genomes]
rs35464732	1.00[EUR][1000 genomes]
rs35783632	1.00[AFR][1000 genomes]
rs35898909	1.00[AFR][1000 genomes]
rs41283423	1.00[AFR][1000 genomes]
rs4134993	1.00[AFR][1000 genomes]
rs4134998	1.00[AFR][1000 genomes]
rs4135005	1.00[AFR][1000 genomes]
rs4135007	1.00[AFR][1000 genomes]
rs4135012	1.00[AFR][1000 genomes]
rs4135019	1.00[AFR][1000 genomes]
rs4135021	1.00[AFR][1000 genomes]
rs4135027	1.00[AFR][1000 genomes]
rs4135030	1.00[AFR][1000 genomes]
rs60061677	1.00[ASN][1000 genomes]
rs72819623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72819624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72819626	1.00[EUR][1000 genomes]
rs72819628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72819630	1.00[AFR][1000 genomes]
rs72819631	0.93[EUR][1000 genomes]
rs72819633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72819651	1.00[AFR][1000 genomes]
rs9303287	1.00[EUR][1000 genomes]
rs9895336	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38606600-38617400	Weak transcription	Small Intestine	intestine
2	chr17:38607600-38618400	Genic enhancers	NHLF	lung
3	chr17:38610400-38618600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr17:38612400-38619200	Enhancers	Right Atrium	heart
5	chr17:38613800-38619800	Enhancers	Rectal Smooth Muscle	rectum
6	chr17:38614000-38621000	Enhancers	Ovary	ovary
7	chr17:38614000-38623400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr17:38614200-38629200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr17:38614400-38619600	Enhancers	Colon Smooth Muscle	Colon
10	chr17:38614400-38620200	Enhancers	Placenta	Placenta
11	chr17:38614600-38617800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr17:38614600-38618400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:38614600-38619600	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr17:38614600-38620600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr17:38614800-38617400	Weak transcription	Colonic Mucosa	Colon
16	chr17:38614800-38618000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr17:38614800-38620400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:38615000-38617400	Weak transcription	Fetal Intestine Large	intestine
19	chr17:38615000-38618200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr17:38615000-38618800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr17:38615000-38619200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr17:38615000-38619400	Enhancers	Liver	Liver
23	chr17:38615000-38619600	Enhancers	Right Ventricle	heart
24	chr17:38615000-38619800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr17:38615000-38620800	Enhancers	Fetal Muscle Trunk	muscle
26	chr17:38615000-38620800	Enhancers	Fetal Muscle Leg	muscle
27	chr17:38615200-38618200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr17:38615200-38618600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr17:38615200-38618600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr17:38615400-38617400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr17:38615400-38617600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr17:38615400-38618400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr17:38615400-38618800	Weak transcription	HUVEC	blood vessel
34	chr17:38615400-38619000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr17:38615400-38619000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr17:38615400-38619400	Weak transcription	NH-A	brain
37	chr17:38615400-38620200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr17:38615400-38620600	Enhancers	Adipose Nuclei	Adipose
39	chr17:38615400-38621400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr17:38615400-38624600	Weak transcription	HSMM	muscle
41	chr17:38615600-38617400	Weak transcription	Dnd41	blood
42	chr17:38615600-38618800	Weak transcription	HSMMtube	muscle
43	chr17:38615600-38619400	Enhancers	Fetal Heart	heart
44	chr17:38615600-38620600	Enhancers	Fetal Lung	lung
45	chr17:38615800-38617800	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr17:38615800-38619200	Enhancers	NHDF-Ad	bronchial
47	chr17:38616000-38617400	Weak transcription	Left Ventricle	heart
48	chr17:38616000-38619800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr17:38616200-38617400	Weak transcription	Stomach Mucosa	stomach
50	chr17:38616200-38619600	Weak transcription	Muscle Satellite Cultured Cells	--

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