Variant report

Variant	rs72702962
Chromosome Location	chr9:14533963-14533964
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr9:14533935-14534660	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:14526618..14530885-chr9:14532603..14534403,3	K562	blood:
2	chr9:14524643..14526362-chr9:14532686..14534400,2	K562	blood:
3	chr9:14513208..14515171-chr9:14532827..14534848,2	K562	blood:

Variant related genes	Relation type
ENSG00000237137	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11787815	1.00[ASN][1000 genomes]
rs11788056	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11789042	1.00[AFR][1000 genomes]
rs11790649	1.00[ASN][1000 genomes]
rs11793517	1.00[AFR][1000 genomes]
rs11793843	1.00[AFR][1000 genomes]
rs11795087	1.00[AFR][1000 genomes]
rs16931893	1.00[ASN][1000 genomes]
rs56237396	1.00[ASN][1000 genomes]
rs57866508	1.00[ASN][1000 genomes]
rs7020007	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700551	1.00[ASN][1000 genomes]
rs72700579	1.00[ASN][1000 genomes]
rs72700586	1.00[ASN][1000 genomes]
rs72702930	1.00[ASN][1000 genomes]
rs72702932	1.00[ASN][1000 genomes]
rs72702938	1.00[ASN][1000 genomes]
rs72702939	1.00[ASN][1000 genomes]
rs72702940	1.00[ASN][1000 genomes]
rs72702941	1.00[ASN][1000 genomes]
rs72702954	1.00[ASN][1000 genomes]
rs72702957	1.00[ASN][1000 genomes]
rs72702961	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72702994	1.00[AFR][1000 genomes]
rs72702995	1.00[AFR][1000 genomes]
rs72702999	1.00[AFR][1000 genomes]
rs72704924	1.00[AFR][1000 genomes]
rs72704939	1.00[AFR][1000 genomes]
rs72704952	1.00[AFR][1000 genomes]
rs963338	1.00[ASN][1000 genomes]
rs979897	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv916811	chr9:14210978-14542068	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv831517	chr9:14512924-14738206	Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv892604	chr9:14519301-14559910	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv613637	chr9:14524438-15011915	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14529400-14534000	Weak transcription	Right Atrium	heart
2	chr9:14529400-14534000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr9:14529800-14535600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:14530200-14534400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr9:14530200-14535000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr9:14530200-14535600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:14531000-14534000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr9:14531600-14534200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr9:14531600-14534400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr9:14531800-14534000	Enhancers	HepG2	liver
11	chr9:14531800-14535800	Enhancers	Fetal Muscle Leg	muscle
12	chr9:14532000-14535000	Enhancers	Brain Germinal Matrix	brain
13	chr9:14532200-14534200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr9:14532200-14534800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr9:14532200-14535600	Enhancers	HSMMtube	muscle
16	chr9:14532200-14538400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr9:14532400-14534000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:14532400-14534000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr9:14532400-14534800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:14532400-14535400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr9:14532400-14535400	Enhancers	NHEK	skin
22	chr9:14532600-14534200	Enhancers	Fetal Intestine Small	intestine
23	chr9:14532600-14534600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr9:14532600-14535800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr9:14532800-14534000	Weak transcription	Left Ventricle	heart
26	chr9:14532800-14534000	Weak transcription	Lung	lung
27	chr9:14532800-14535000	Enhancers	K562	blood
28	chr9:14532800-14535200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr9:14532800-14541200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr9:14533000-14534000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr9:14533000-14534000	Weak transcription	Placenta	Placenta
32	chr9:14533200-14534000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:14533200-14535400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr9:14533400-14535600	Enhancers	Fetal Muscle Trunk	muscle
35	chr9:14533600-14535000	Enhancers	Fetal Heart	heart
36	chr9:14533800-14534000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr9:14533800-14534400	Enhancers	Placenta Amnion	Placenta Amnion
38	chr9:14533800-14534600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr9:14533800-14534800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr9:14533800-14535000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr9:14533800-14535000	Enhancers	Right Ventricle	heart
42	chr9:14533800-14535400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr9:14533800-14535400	Bivalent Enhancer	Fetal Lung	lung

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