Variant report

Variant	rs541494046
Chromosome Location	chr3:138219853-138219854
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv3447663	chr3:138096329-138273034	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv999041	chr3:138148812-138347988	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv522517	chr3:138174523-138297982	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1013074	chr3:138213166-138737688	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv1002612	chr3:138213274-138831792	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv536726	chr3:138213274-138831792	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS 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	38 gene(s)	inside rSNPs	diseases
8	nsv877538	chr3:138218709-138311201	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138194000-138260200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr3:138207000-138223800	Weak transcription	Brain Anterior Caudate	brain
3	chr3:138208400-138227400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:138209400-138236800	Weak transcription	Aorta	Aorta
5	chr3:138209800-138258600	Weak transcription	Primary T cells from cord blood	blood
6	chr3:138210000-138230200	Weak transcription	Fetal Brain Male	brain
7	chr3:138210200-138222000	Weak transcription	Brain Hippocampus Middle	brain
8	chr3:138210400-138236800	Weak transcription	Brain Substantia Nigra	brain
9	chr3:138210400-138242000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr3:138210800-138260600	Weak transcription	Colonic Mucosa	Colon
11	chr3:138211000-138229400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:138211000-138231000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr3:138211000-138236600	Weak transcription	Spleen	Spleen
14	chr3:138211200-138227200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:138211200-138260600	Weak transcription	Brain Angular Gyrus	brain
16	chr3:138211400-138230400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr3:138211600-138227400	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr3:138211800-138260600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr3:138212000-138235000	Weak transcription	Brain Germinal Matrix	brain
20	chr3:138212000-138235800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr3:138212400-138221200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr3:138212400-138236600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:138212400-138236600	Weak transcription	Esophagus	oesophagus
24	chr3:138212600-138224400	Weak transcription	Left Ventricle	heart
25	chr3:138212600-138236600	Weak transcription	Lung	lung
26	chr3:138212600-138250200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr3:138212800-138236800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr3:138212800-138249800	Weak transcription	Small Intestine	intestine
29	chr3:138213000-138224400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr3:138213200-138236600	Weak transcription	Ovary	ovary
31	chr3:138213200-138236600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr3:138213200-138243800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr3:138213400-138230200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr3:138213800-138220600	Weak transcription	Hela-S3	cervix
35	chr3:138213800-138231200	Weak transcription	Colon Smooth Muscle	Colon
36	chr3:138214200-138229000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:138214200-138229200	Weak transcription	Osteobl	bone
38	chr3:138214200-138232600	Weak transcription	HMEC	breast
39	chr3:138214200-138236600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:138214400-138220400	Weak transcription	NHLF	lung
41	chr3:138214400-138228600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr3:138214400-138231800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr3:138214400-138260600	Weak transcription	Right Ventricle	heart
44	chr3:138215000-138231800	Weak transcription	Psoas Muscle	Psoas
45	chr3:138215200-138223600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:138215400-138228800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:138215600-138226200	Weak transcription	Fetal Heart	heart
48	chr3:138215600-138236400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr3:138215800-138236600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:138216000-138221800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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