Variant report

Variant	rs541374947
Chromosome Location	chr3:67442910-67442911
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007093	chr3:67113534-67602973	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv470638	chr3:67367341-67814738	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv460700	chr3:67393629-67712970	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv590560	chr3:67393629-67712970	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv834719	chr3:67396626-67589852	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	esv3408053	chr3:67442744-67443342	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67412400-67453000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr3:67414400-67470800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr3:67420200-67449600	Weak transcription	HSMM	muscle
4	chr3:67420200-67452000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:67420200-67479400	Weak transcription	Esophagus	oesophagus
6	chr3:67424600-67457000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr3:67424600-67466000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:67424600-67471000	Weak transcription	Colonic Mucosa	Colon
9	chr3:67425000-67465200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:67425000-67474200	Weak transcription	Gastric	stomach
11	chr3:67425600-67443200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr3:67425800-67456000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr3:67427000-67462800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:67427400-67450000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr3:67429200-67449800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr3:67431600-67449600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr3:67431600-67451000	Weak transcription	Pancreas	Pancrea
18	chr3:67431600-67469400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:67433400-67449600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:67433600-67449600	Weak transcription	A549	lung
21	chr3:67433600-67465800	Weak transcription	NHLF	lung
22	chr3:67435000-67466000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr3:67435200-67449600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:67435400-67452600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:67435400-67452800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr3:67435400-67462800	Weak transcription	HSMMtube	muscle
27	chr3:67435400-67467200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:67435600-67449800	Weak transcription	Osteobl	bone
29	chr3:67435600-67450800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr3:67435600-67463200	Weak transcription	Fetal Lung	lung
31	chr3:67435600-67509800	Weak transcription	Ovary	ovary
32	chr3:67435600-67534200	Weak transcription	Aorta	Aorta
33	chr3:67435800-67462800	Weak transcription	Fetal Muscle Leg	muscle
34	chr3:67436000-67462800	Weak transcription	Right Ventricle	heart
35	chr3:67436200-67455400	Weak transcription	Left Ventricle	heart
36	chr3:67437400-67443200	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr3:67437400-67462200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:67438400-67449800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr3:67440000-67443400	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr3:67440000-67470600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr3:67440400-67443400	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr3:67440600-67454800	Weak transcription	Fetal Kidney	kidney
43	chr3:67440800-67457400	Weak transcription	HepG2	liver
44	chr3:67441000-67449600	Weak transcription	GM12878-XiMat	blood
45	chr3:67441200-67471600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr3:67441400-67443200	Strong transcription	Primary T cells from cord blood	blood
47	chr3:67441400-67443400	Strong transcription	Primary B cells from peripheral blood	blood
48	chr3:67441600-67443400	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr3:67441800-67443000	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr3:67441800-67443200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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