Variant report

Variant	rs4955535
Chromosome Location	chr3:134323156-134323157
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:134317378..134319785-chr3:134321623..134324001,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10804633	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10935122	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12632372	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4396934	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4440162	1.00[AMR][1000 genomes]
rs4560339	1.00[AMR][1000 genomes]
rs4596189	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4955477	1.00[AMR][1000 genomes]
rs4955549	1.00[AMR][1000 genomes]
rs6439485	1.00[AMR][1000 genomes]
rs6439486	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6439490	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6439505	1.00[AMR][1000 genomes]
rs6776208	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6777283	1.00[AMR][1000 genomes]
rs6805568	1.00[AMR][1000 genomes]
rs6805896	1.00[AMR][1000 genomes]
rs6806608	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7356009	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7372999	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7373651	0.86[AFR][1000 genomes]
rs7609638	1.00[AMR][1000 genomes]
rs7609727	1.00[AMR][1000 genomes]
rs7633582	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9289473	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9289477	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9844020	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9870217	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877510	chr3:134126150-134400448	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv877511	chr3:134174071-134358947	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv877512	chr3:134174071-134372486	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv877513	chr3:134174071-134379752	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv877514	chr3:134191938-134372486	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv829730	chr3:134199097-134359544	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv1002382	chr3:134239191-134358001	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 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	chr3:134319600-134334600	Weak transcription	Aorta	Aorta
2	chr3:134319800-134353800	Weak transcription	Left Ventricle	heart
3	chr3:134320000-134324600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr3:134320000-134324800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:134320200-134325400	Weak transcription	Adipose Nuclei	Adipose
6	chr3:134320400-134338000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr3:134320600-134324400	Weak transcription	Primary B cells from cord blood	blood
8	chr3:134321000-134324800	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr3:134321200-134323400	Strong transcription	Skeletal Muscle Male	skeletal muscle
10	chr3:134321200-134324000	Strong transcription	Stomach Smooth Muscle	stomach
11	chr3:134321200-134335200	Weak transcription	Ovary	ovary
12	chr3:134321400-134327800	Weak transcription	Brain Angular Gyrus	brain
13	chr3:134321600-134325400	Weak transcription	Psoas Muscle	Psoas
14	chr3:134321600-134325600	Weak transcription	Fetal Heart	heart
15	chr3:134321600-134326200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:134321600-134326400	Weak transcription	Fetal Intestine Small	intestine
17	chr3:134321600-134329200	Weak transcription	Fetal Lung	lung
18	chr3:134321600-134336800	Weak transcription	Brain Anterior Caudate	brain
19	chr3:134321600-134349200	Weak transcription	Brain Substantia Nigra	brain
20	chr3:134321800-134323400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr3:134321800-134324800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr3:134321800-134328400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr3:134321800-134337400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr3:134321800-134337800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr3:134322000-134325000	Weak transcription	Brain Germinal Matrix	brain
26	chr3:134322000-134328800	Weak transcription	Brain Hippocampus Middle	brain
27	chr3:134322200-134325200	Strong transcription	Fetal Muscle Leg	muscle
28	chr3:134322200-134331200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr3:134322400-134323200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:134322400-134324000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
31	chr3:134322600-134324000	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr3:134322600-134324000	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr3:134322600-134331200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:134322800-134323800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:134322800-134324400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:134323000-134323200	ZNF genes & repeats	Gastric	stomach
37	chr3:134323000-134323200	Strong transcription	Right Ventricle	heart
38	chr3:134323000-134324200	Weak transcription	Spleen	Spleen
39	chr3:134323000-134324400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr3:134323000-134324400	Weak transcription	Fetal Muscle Trunk	muscle

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