Variant report

Variant	rs12003861
Chromosome Location	chr9:14534422-14534423
allele	C/G
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	CCNT2	chr9:14534194-14534635	K562	blood:	n/a	n/a
2	HMGN3	chr9:14534023-14534655	K562	blood:	n/a	n/a
3	EP300	chr9:14534398-14534610	K562	blood:	n/a	chr9:14534493-14534502
4	MAZ	chr9:14534342-14534663	K562	blood:	n/a	n/a
5	RCOR1	chr9:14533935-14534660	K562	blood:	n/a	n/a
6	CTCF	chr9:14534394-14534556	K562	blood:	n/a	chr9:14534427-14534435

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:14534376..14536312-chr9:14538392..14540360,2	K562	blood:
2	chr9:14513208..14515171-chr9:14532827..14534848,2	K562	blood:

Variant related genes	Relation type
ENSG00000237137	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10756571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10961555	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[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:40 , 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	chr9:14530200-14535000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr9:14530200-14535600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:14531800-14535800	Enhancers	Fetal Muscle Leg	muscle
5	chr9:14532000-14535000	Enhancers	Brain Germinal Matrix	brain
6	chr9:14532200-14534800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:14532200-14535600	Enhancers	HSMMtube	muscle
8	chr9:14532200-14538400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr9:14532400-14534800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr9:14532400-14535400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr9:14532400-14535400	Enhancers	NHEK	skin
12	chr9:14532600-14534600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr9:14532600-14535800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr9:14532800-14535000	Enhancers	K562	blood
15	chr9:14532800-14535200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr9:14532800-14541200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr9:14533200-14535400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr9:14533400-14535600	Enhancers	Fetal Muscle Trunk	muscle
19	chr9:14533600-14535000	Enhancers	Fetal Heart	heart
20	chr9:14533800-14534600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr9:14533800-14534800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr9:14533800-14535000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:14533800-14535000	Enhancers	Right Ventricle	heart
24	chr9:14533800-14535400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr9:14533800-14535400	Bivalent Enhancer	Fetal Lung	lung
26	chr9:14534000-14534600	Enhancers	Lung	lung
27	chr9:14534000-14534800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:14534000-14534800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr9:14534000-14534800	Enhancers	Placenta	Placenta
30	chr9:14534000-14535200	Enhancers	Left Ventricle	heart
31	chr9:14534000-14535400	Enhancers	Right Atrium	heart
32	chr9:14534000-14535600	Enhancers	HMEC	breast
33	chr9:14534200-14534600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr9:14534200-14534800	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr9:14534200-14535000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr9:14534200-14536000	Enhancers	Psoas Muscle	Psoas
37	chr9:14534400-14534600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr9:14534400-14534600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr9:14534400-14534800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
40	chr9:14534400-14538400	Weak transcription	Placenta Amnion	Placenta Amnion

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