Variant report

Variant	rs35490761
Chromosome Location	chr3:49944672-49944673
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:49715085..49717288-chr3:49943481..49946455,2	K562	blood:
2	chr3:49943520..49945282-chr3:50028077..50030089,2	K562	blood:
3	chr3:49942811..49946038-chr3:49946373..49949588,4	K562	blood:
4	chr3:49936575..49939854-chr3:49944079..49947102,4	MCF-7	breast:
5	chr3:49943889..49946064-chr3:49967481..49970141,2	K562	blood:
6	chr3:49713853..49717288-chr3:49943481..49946455,3	K562	blood:
7	chr3:49942412..49944768-chr3:49963450..49966212,4	K562	blood:
8	chr3:49941945..49947861-chr3:49964712..49970141,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000230698	Chromatin interaction
ENSG00000164062	Chromatin interaction
ENSG00000164077	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs34471589	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35170106	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35871951	0.81[AFR][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	esv1796352	chr3:49687101-49949959	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv876766	chr3:49817450-49961780	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv876767	chr3:49918751-50153356	Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49940000-49945600	Weak transcription	Dnd41	blood
2	chr3:49941600-49946200	Weak transcription	Brain Germinal Matrix	brain
3	chr3:49941800-49945800	Enhancers	Fetal Thymus	thymus
4	chr3:49941800-49946000	Enhancers	Fetal Intestine Large	intestine
5	chr3:49941800-49946200	Weak transcription	Brain Substantia Nigra	brain
6	chr3:49941800-49950200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:49943600-49945200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:49943600-49945800	Weak transcription	Small Intestine	intestine
9	chr3:49943600-49950800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:49943800-49945200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:49943800-49945600	Weak transcription	Fetal Brain Female	brain
12	chr3:49943800-49946200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:49943800-49946200	Weak transcription	Brain Angular Gyrus	brain
14	chr3:49943800-49947600	Weak transcription	Fetal Heart	heart
15	chr3:49943800-49966000	Weak transcription	Psoas Muscle	Psoas
16	chr3:49944000-49945000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:49944000-49945200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr3:49944000-49945200	Weak transcription	Fetal Stomach	stomach
19	chr3:49944000-49945600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:49944000-49945600	Enhancers	K562	blood
21	chr3:49944000-49945800	Weak transcription	Brain Hippocampus Middle	brain
22	chr3:49944000-49946200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr3:49944000-49946200	Weak transcription	Liver	Liver
24	chr3:49944000-49946200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr3:49944000-49946200	Weak transcription	Osteobl	bone
26	chr3:49944000-49946400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr3:49944000-49946600	Weak transcription	NHLF	lung
28	chr3:49944000-49947400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:49944000-49947600	Weak transcription	Aorta	Aorta
30	chr3:49944000-49947600	Weak transcription	Fetal Lung	lung
31	chr3:49944000-49949400	Weak transcription	Right Atrium	heart
32	chr3:49944000-49954000	Weak transcription	NHDF-Ad	bronchial
33	chr3:49944200-49944800	Weak transcription	Fetal Muscle Leg	muscle
34	chr3:49944200-49944800	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr3:49944200-49945200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr3:49944200-49945400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr3:49944200-49945400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr3:49944200-49945400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:49944200-49945400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr3:49944200-49945400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr3:49944200-49945400	Weak transcription	Thymus	Thymus
42	chr3:49944200-49945600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr3:49944200-49945600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:49944200-49945600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr3:49944200-49945600	Enhancers	Duodenum Mucosa	Duodenum
46	chr3:49944200-49945600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr3:49944200-49945800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr3:49944200-49945800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr3:49944200-49945800	Weak transcription	Spleen	Spleen
50	chr3:49944200-49946000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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