Variant report

Variant	rs72819633
Chromosome Location	chr17:38617890-38617891
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38616159..38619058-chr17:38623950..38625450,2	K562	blood:
2	chr17:38617849..38619385-chr17:38619757..38622445,2	MCF-7	breast:
3	chr17:38616795..38619778-chr17:38651196..38652807,2	K562	blood:
4	chr17:38617634..38619166-chr17:38628984..38631978,2	MCF-7	breast:
5	chr17:38612055..38614566-chr17:38617242..38619590,2	K562	blood:
6	chr17:38615426..38618640-chr17:38688722..38692627,3	MCF-7	breast:
7	chr17:38595963..38598881-chr17:38617030..38618632,2	K562	blood:

Variant related genes	Relation type
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]
rs72819632	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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38607600-38618400	Genic enhancers	NHLF	lung
2	chr17:38610400-38618600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr17:38612400-38619200	Enhancers	Right Atrium	heart
4	chr17:38613800-38619800	Enhancers	Rectal Smooth Muscle	rectum
5	chr17:38614000-38621000	Enhancers	Ovary	ovary
6	chr17:38614000-38623400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr17:38614200-38629200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr17:38614400-38619600	Enhancers	Colon Smooth Muscle	Colon
9	chr17:38614400-38620200	Enhancers	Placenta	Placenta
10	chr17:38614600-38618400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:38614600-38619600	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr17:38614600-38620600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr17:38614800-38618000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr17:38614800-38620400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:38615000-38618200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr17:38615000-38618800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr17:38615000-38619200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr17:38615000-38619400	Enhancers	Liver	Liver
19	chr17:38615000-38619600	Enhancers	Right Ventricle	heart
20	chr17:38615000-38619800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr17:38615000-38620800	Enhancers	Fetal Muscle Trunk	muscle
22	chr17:38615000-38620800	Enhancers	Fetal Muscle Leg	muscle
23	chr17:38615200-38618200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr17:38615200-38618600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr17:38615200-38618600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr17:38615400-38618400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr17:38615400-38618800	Weak transcription	HUVEC	blood vessel
28	chr17:38615400-38619000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr17:38615400-38619000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr17:38615400-38619400	Weak transcription	NH-A	brain
31	chr17:38615400-38620200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr17:38615400-38620600	Enhancers	Adipose Nuclei	Adipose
33	chr17:38615400-38621400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr17:38615400-38624600	Weak transcription	HSMM	muscle
35	chr17:38615600-38618800	Weak transcription	HSMMtube	muscle
36	chr17:38615600-38619400	Enhancers	Fetal Heart	heart
37	chr17:38615600-38620600	Enhancers	Fetal Lung	lung
38	chr17:38615800-38619200	Enhancers	NHDF-Ad	bronchial
39	chr17:38616000-38619800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr17:38616200-38619600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr17:38616400-38618200	Weak transcription	Esophagus	oesophagus
42	chr17:38616400-38618800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr17:38616400-38619000	Enhancers	Spleen	Spleen
44	chr17:38616600-38618000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr17:38616600-38618000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr17:38616600-38618400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr17:38616600-38618600	Weak transcription	Lung	lung
48	chr17:38616600-38619400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr17:38616600-38621000	Enhancers	Fetal Stomach	stomach
50	chr17:38616800-38618000	Weak transcription	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links