Variant report

Variant	rs33531
Chromosome Location	chr3:42410575-42410576
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13095022	0.82[EUR][1000 genomes]
rs33527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs33528	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs33529	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs33530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529987	chr3:41921995-42591771	Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1009125	chr3:41953873-42472253	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv536549	chr3:41953873-42472253	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1005533	chr3:41953873-42596375	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42407200-42411000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr3:42408200-42411200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:42408400-42410800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:42408600-42411600	Enhancers	Fetal Muscle Leg	muscle
5	chr3:42408800-42411200	Enhancers	Colon Smooth Muscle	Colon
6	chr3:42409200-42410600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr3:42409200-42411000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:42409200-42411400	Enhancers	Rectal Smooth Muscle	rectum
9	chr3:42409400-42411000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr3:42409400-42411000	Enhancers	Brain Angular Gyrus	brain
11	chr3:42409400-42411000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr3:42409400-42411400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr3:42409400-42411600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr3:42409600-42411000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:42409600-42411200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr3:42409600-42411400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr3:42409600-42411800	Enhancers	Fetal Brain Male	brain
18	chr3:42409600-42412000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr3:42409800-42410800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:42409800-42411000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr3:42409800-42411000	Weak transcription	Brain Hippocampus Middle	brain
22	chr3:42409800-42411400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr3:42409800-42411800	Enhancers	Fetal Brain Female	brain
24	chr3:42410200-42410600	Weak transcription	Brain Germinal Matrix	brain
25	chr3:42410200-42411000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr3:42410200-42411400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:42410200-42411400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:42410200-42411400	Enhancers	Brain Anterior Caudate	brain
29	chr3:42410200-42411400	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr3:42410400-42411200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr3:42410400-42411400	Enhancers	Primary B cells from peripheral blood	blood
32	chr3:42410400-42411400	Enhancers	Primary T cells from cord blood	blood
33	chr3:42410400-42411400	Enhancers	Primary T cells fromperipheralblood	blood
34	chr3:42410400-42411400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr3:42410400-42411400	Enhancers	Cortex derived primary cultured neurospheres	brain

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