Variant report

Variant	rs7020007
Chromosome Location	chr9:14535343-14535344
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:14534376..14536312-chr9:14538392..14540360,2	K562	blood:
2	chr9:14532036..14533949-chr9:14535107..14537030,2	K562	blood:
3	chr9:14526916..14528634-chr9:14534526..14536593,2	K562	blood:

Variant related genes	Relation type
ENSG00000237137	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11787815	1.00[ASN][1000 genomes]
rs11788056	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11790649	1.00[ASN][1000 genomes]
rs16931893	1.00[ASN][1000 genomes]
rs4741394	0.91[YRI][hapmap]
rs56237396	1.00[ASN][1000 genomes]
rs57866508	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]
rs72702962	1.00[EUR][1000 genomes];1.00[ASN][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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14529800-14535600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:14530200-14535600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:14531800-14535800	Enhancers	Fetal Muscle Leg	muscle
4	chr9:14532200-14535600	Enhancers	HSMMtube	muscle
5	chr9:14532200-14538400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr9:14532400-14535400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr9:14532400-14535400	Enhancers	NHEK	skin
8	chr9:14532600-14535800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr9:14532800-14541200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr9:14533200-14535400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr9:14533400-14535600	Enhancers	Fetal Muscle Trunk	muscle
12	chr9:14533800-14535400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr9:14533800-14535400	Bivalent Enhancer	Fetal Lung	lung
14	chr9:14534000-14535400	Enhancers	Right Atrium	heart
15	chr9:14534000-14535600	Enhancers	HMEC	breast
16	chr9:14534200-14536000	Enhancers	Psoas Muscle	Psoas
17	chr9:14534400-14538400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr9:14534600-14535400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr9:14534600-14541200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr9:14534800-14535400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr9:14534800-14535800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr9:14534800-14535800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr9:14534800-14537600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr9:14534800-14541200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr9:14535000-14535400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr9:14535000-14535600	Enhancers	Brain Angular Gyrus	brain
27	chr9:14535000-14535600	Enhancers	Brain Hippocampus Middle	brain
28	chr9:14535000-14536600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr9:14535000-14537000	Weak transcription	K562	blood
30	chr9:14535000-14538400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr9:14535000-14538400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr9:14535200-14535400	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
33	chr9:14535200-14535400	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr9:14535200-14535400	Enhancers	Fetal Heart	heart
35	chr9:14535200-14535400	Flanking Active TSS	Left Ventricle	heart
36	chr9:14535200-14535400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
37	chr9:14535200-14535600	Enhancers	Brain Substantia Nigra	brain
38	chr9:14535200-14535800	Active TSS	Right Ventricle	heart

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