Variant report

Variant	rs6800742
Chromosome Location	chr3:134322217-134322218
allele	C/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: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs6799119	1.00[AFR][1000 genomes]
rs6802269	1.00[AMR][1000 genomes]
rs7619017	1.00[AMR][1000 genomes]
rs7627188	1.00[AMR][1000 genomes]
rs7652126	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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134318000-134322400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:134319400-134322400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:134319600-134334600	Weak transcription	Aorta	Aorta
4	chr3:134319800-134353800	Weak transcription	Left Ventricle	heart
5	chr3:134320000-134324600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr3:134320000-134324800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:134320200-134325400	Weak transcription	Adipose Nuclei	Adipose
8	chr3:134320400-134322400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr3:134320400-134338000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr3:134320600-134324400	Weak transcription	Primary B cells from cord blood	blood
11	chr3:134320800-134322800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:134321000-134324800	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr3:134321200-134322600	Weak transcription	Right Ventricle	heart
14	chr3:134321200-134323400	Strong transcription	Skeletal Muscle Male	skeletal muscle
15	chr3:134321200-134324000	Strong transcription	Stomach Smooth Muscle	stomach
16	chr3:134321200-134335200	Weak transcription	Ovary	ovary
17	chr3:134321400-134322400	Genic enhancers	Fetal Muscle Trunk	muscle
18	chr3:134321400-134327800	Weak transcription	Brain Angular Gyrus	brain
19	chr3:134321600-134322600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:134321600-134322600	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr3:134321600-134322800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:134321600-134323000	Enhancers	Spleen	Spleen
23	chr3:134321600-134325400	Weak transcription	Psoas Muscle	Psoas
24	chr3:134321600-134325600	Weak transcription	Fetal Heart	heart
25	chr3:134321600-134326200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr3:134321600-134326400	Weak transcription	Fetal Intestine Small	intestine
27	chr3:134321600-134329200	Weak transcription	Fetal Lung	lung
28	chr3:134321600-134336800	Weak transcription	Brain Anterior Caudate	brain
29	chr3:134321600-134349200	Weak transcription	Brain Substantia Nigra	brain
30	chr3:134321800-134323000	Enhancers	Primary hematopoietic stem cells	blood
31	chr3:134321800-134323400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr3:134321800-134324800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr3:134321800-134328400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr3:134321800-134337400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr3:134321800-134337800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr3:134322000-134323000	Weak transcription	Gastric	stomach
37	chr3:134322000-134325000	Weak transcription	Brain Germinal Matrix	brain
38	chr3:134322000-134328800	Weak transcription	Brain Hippocampus Middle	brain
39	chr3:134322200-134322600	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr3:134322200-134325200	Strong transcription	Fetal Muscle Leg	muscle
41	chr3:134322200-134331200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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