Variant report

Variant	rs4237147
Chromosome Location	chr9:3383495-3383496
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10117431	0.89[YRI][hapmap]
rs10124292	0.83[ASW][hapmap];0.93[YRI][hapmap]
rs10124295	0.93[YRI][hapmap]
rs10814038	0.84[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10814039	0.84[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10971661	0.83[ASW][hapmap];0.84[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.96[MKK][hapmap];0.96[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10971665	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10971667	0.83[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10971685	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10971806	0.92[CHB][hapmap]
rs11536748	0.94[ASN][1000 genomes]
rs12002215	0.96[YRI][hapmap]
rs12004573	0.81[JPT][hapmap]
rs12335763	0.84[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12338927	0.94[ASN][1000 genomes]
rs12343385	0.92[CHB][hapmap]
rs12347811	0.90[CHB][hapmap];0.80[ASN][1000 genomes]
rs12347985	0.92[CHB][hapmap]
rs13298908	0.92[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs1348369	0.83[ASW][hapmap];0.89[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.96[MKK][hapmap];0.96[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2000216	0.88[CEU][hapmap];0.98[EUR][1000 genomes]
rs34065256	0.85[ASN][1000 genomes]
rs34331766	0.85[ASN][1000 genomes]
rs35545940	0.94[ASN][1000 genomes]
rs3758195	0.81[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs4741825	0.83[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4741826	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4741829	0.92[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs60796901	0.85[ASN][1000 genomes]
rs66763574	0.94[ASN][1000 genomes]
rs7022711	0.88[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7024933	0.82[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7029544	0.83[YRI][hapmap]
rs7043493	0.93[YRI][hapmap]
rs7850570	0.94[EUR][1000 genomes]
rs7851558	0.90[JPT][hapmap]
rs7869854	0.92[YRI][hapmap]
rs7875889	0.84[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9695619	0.92[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892086	chr9:3012276-3410838	Bivalent Enhancer ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1032921	chr9:3139007-3502815	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv539940	chr9:3139007-3502815	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv531566	chr9:3288211-3545454	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv892089	chr9:3290569-3578094	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv916259	chr9:3308176-4296711	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv1034280	chr9:3319718-3491987	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv539942	chr9:3319718-3491987	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1028815	chr9:3319718-3584455	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
10	nsv466091	chr9:3349487-3389660	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv613146	chr9:3349487-3389660	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv613147	chr9:3368111-3440355	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:3337800-3388800	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr9:3341200-3397600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr9:3351000-3408200	Weak transcription	Fetal Intestine Small	intestine
4	chr9:3355000-3383800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr9:3359400-3387600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr9:3359600-3383800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:3359800-3384000	Weak transcription	Primary B cells from cord blood	blood
8	chr9:3364200-3397200	Weak transcription	Left Ventricle	heart
9	chr9:3364800-3393800	Weak transcription	Adipose Nuclei	Adipose
10	chr9:3367600-3384800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr9:3367800-3383800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr9:3369400-3398400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr9:3375800-3390200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr9:3377000-3386800	Weak transcription	Fetal Lung	lung
15	chr9:3377200-3390000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr9:3377400-3390400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr9:3377600-3401400	Weak transcription	HMEC	breast
18	chr9:3377800-3401600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr9:3379800-3390400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr9:3380400-3390400	Weak transcription	Thymus	Thymus
21	chr9:3380600-3391400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr9:3381000-3397000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr9:3382200-3425000	Weak transcription	Aorta	Aorta
24	chr9:3382400-3384000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr9:3382400-3397000	Weak transcription	Fetal Intestine Large	intestine
26	chr9:3382400-3401400	Weak transcription	Brain Anterior Caudate	brain
27	chr9:3382800-3401000	Weak transcription	Brain Germinal Matrix	brain
28	chr9:3383200-3384800	Strong transcription	Primary T cells from cord blood	blood
29	chr9:3383200-3410000	Weak transcription	Fetal Brain Male	brain
30	chr9:3383400-3385800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:3383400-3401400	Weak transcription	Brain Inferior Temporal Lobe	brain

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