Variant report

Variant	rs9817591
Chromosome Location	chr3:140789154-140789155
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:140660042..140662305-chr3:140787345..140789644,2	K562	blood:
2	chr3:140785419..140788357-chr3:140788951..140791966,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175093	Chromatin interaction
ENSG00000114120	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10935417	0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12494997	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1365630	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1426962	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1426963	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59279694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6439977	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6771494	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6793789	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6804474	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7622090	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7639594	0.82[EUR][1000 genomes]
rs890528	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs919157	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9817298	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9823283	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9823690	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9844927	0.81[EUR][1000 genomes]
rs9882989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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	nsv432488	chr3:140752302-140790302	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140777400-140795000	Weak transcription	Fetal Brain Female	brain
2	chr3:140777600-140789600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:140782800-140789200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:140783600-140794200	Weak transcription	Fetal Kidney	kidney
5	chr3:140785400-140790000	Weak transcription	Right Ventricle	heart
6	chr3:140785800-140795000	Enhancers	Fetal Heart	heart
7	chr3:140785800-140795000	Weak transcription	Lung	lung
8	chr3:140786200-140794000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr3:140786400-140789600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:140786600-140789400	Weak transcription	Brain Germinal Matrix	brain
11	chr3:140786800-140789600	Weak transcription	Fetal Stomach	stomach
12	chr3:140786800-140789800	Strong transcription	Fetal Muscle Trunk	muscle
13	chr3:140787200-140789800	Weak transcription	Fetal Lung	lung
14	chr3:140787600-140790400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:140787800-140789200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
16	chr3:140787800-140789400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr3:140787800-140791200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:140788000-140789600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr3:140788000-140791400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr3:140788000-140793000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:140788200-140789200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
22	chr3:140788200-140789600	Weak transcription	Fetal Muscle Leg	muscle
23	chr3:140788200-140789800	Weak transcription	Pancreas	Pancrea
24	chr3:140788200-140791800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:140788200-140797200	Enhancers	H9 Cell Line	embryonic stem cell
26	chr3:140788400-140789400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr3:140788400-140789800	Weak transcription	Dnd41	blood
28	chr3:140788600-140789800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr3:140788600-140795000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr3:140788800-140791200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:140788800-140791600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr3:140789000-140789600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
33	chr3:140789000-140789600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr3:140789000-140790400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr3:140789000-140797600	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links