Variant report

Variant	rs73985229
Chromosome Location	chr17:38081653-38081654
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr17:38081338-38081845	GM12878	blood:	n/a	n/a
2	HEY1	chr17:38080216-38082094	HepG2	liver:	n/a	n/a
3	POLR2A	chr17:38081554-38081730	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr17:38081650-38081680	GM10266	blood:	n/a	n/a
5	POLR2A	chr17:38081637-38082108	HepG2	liver:	n/a	n/a
6	POLR2A	chr17:38081599-38081861	K562	blood:	n/a	n/a
7	POLR2A	chr17:38081097-38081657	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38080556..38082465-chr17:38135552..38137492,2	MCF-7	breast:
2	chr17:38080996..38082970-chr17:38254753..38256927,2	MCF-7	breast:
3	chr17:38080554..38082625-chr17:38096387..38098634,2	K562	blood:
4	chr17:38073834..38076577-chr17:38077829..38081795,4	MCF-7	breast:

No data

Variant related genes	Relation type
ORMDL3	TF binding region
ENSG00000264968	TF binding region
ENSG00000204913	Chromatin interaction
ENSG00000108344	Chromatin interaction
ENSG00000073605	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1453558	1.00[EUR][1000 genomes]
rs16965388	1.00[EUR][1000 genomes]
rs28623237	1.00[EUR][1000 genomes]
rs59246468	1.00[EUR][1000 genomes]
rs73985221	1.00[EUR][1000 genomes]
rs73985222	1.00[EUR][1000 genomes]
rs73985223	1.00[EUR][1000 genomes]
rs73985224	1.00[EUR][1000 genomes]
rs73985226	1.00[EUR][1000 genomes]
rs73985227	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985230	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8071135	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	nsv492308	chr17:38033039-38204458	Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38059000-38082400	Weak transcription	Psoas Muscle	Psoas
2	chr17:38074400-38082200	Genic enhancers	Placenta	Placenta
3	chr17:38074400-38082400	Weak transcription	Hela-S3	cervix
4	chr17:38075600-38082200	Genic enhancers	Fetal Intestine Small	intestine
5	chr17:38076600-38082200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr17:38077200-38082800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr17:38079400-38082200	Weak transcription	HMEC	breast
8	chr17:38079800-38082200	Genic enhancers	Fetal Muscle Trunk	muscle
9	chr17:38080000-38082600	Flanking Active TSS	Liver	Liver
10	chr17:38080000-38083000	Weak transcription	Ovary	ovary
11	chr17:38080200-38082400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr17:38080200-38082400	Genic enhancers	Fetal Stomach	stomach
13	chr17:38080200-38082400	Enhancers	NH-A	brain
14	chr17:38080200-38082600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr17:38080200-38082800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr17:38080400-38081800	Genic enhancers	Dnd41	blood
17	chr17:38080400-38082400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr17:38080400-38082400	Enhancers	NHDF-Ad	bronchial
19	chr17:38080400-38082600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr17:38080400-38082600	Weak transcription	HSMMtube	muscle
21	chr17:38080600-38081800	Genic enhancers	Primary B cells from peripheral blood	blood
22	chr17:38080600-38081800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr17:38080600-38081800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr17:38080600-38082000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr17:38080600-38082000	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr17:38080600-38082200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr17:38080600-38082200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr17:38080600-38082200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr17:38080600-38082200	Enhancers	Stomach Smooth Muscle	stomach
30	chr17:38080600-38082200	Flanking Active TSS	HepG2	liver
31	chr17:38080600-38082200	Enhancers	NHLF	lung
32	chr17:38080600-38082400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr17:38080600-38082400	Weak transcription	Brain Anterior Caudate	brain
34	chr17:38080600-38082400	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr17:38080600-38082600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr17:38080600-38082600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr17:38080600-38082600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr17:38080600-38082600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr17:38080600-38082600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr17:38080600-38082600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr17:38080600-38082600	Enhancers	Right Ventricle	heart
42	chr17:38080600-38082600	Enhancers	Stomach Mucosa	stomach
43	chr17:38080600-38082600	Enhancers	A549	lung
44	chr17:38080600-38082800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr17:38080600-38082800	Enhancers	Left Ventricle	heart
46	chr17:38080600-38082800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr17:38080600-38083000	Weak transcription	Aorta	Aorta
48	chr17:38080600-38083000	Enhancers	Lung	lung
49	chr17:38080800-38081800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr17:38080800-38081800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links