Variant report

Variant	rs111414640
Chromosome Location	chr3:48293514-48293515
allele	G/T
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	nsv529989	chr3:47909480-48301481	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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 miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1002067	chr3:47996472-48326518	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv834682	chr3:48138137-48311122	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	esv3339173	chr3:48292529-48302277	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48283200-48309800	Weak transcription	Fetal Lung	lung
2	chr3:48283400-48295200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:48283400-48297600	Weak transcription	Right Ventricle	heart
4	chr3:48283400-48300400	Weak transcription	Gastric	stomach
5	chr3:48283400-48310000	Weak transcription	NH-A	brain
6	chr3:48283400-48315200	Weak transcription	Ovary	ovary
7	chr3:48283600-48297800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr3:48283600-48300200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr3:48283600-48300800	Weak transcription	Colon Smooth Muscle	Colon
10	chr3:48283600-48309600	Weak transcription	Fetal Intestine Large	intestine
11	chr3:48283800-48297600	Weak transcription	Esophagus	oesophagus
12	chr3:48283800-48307600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:48283800-48309400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:48283800-48310400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr3:48284200-48297600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:48284200-48302800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr3:48285200-48297600	Weak transcription	Lung	lung
18	chr3:48285400-48303000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr3:48285600-48293800	Weak transcription	HSMM	muscle
20	chr3:48285600-48295600	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr3:48285600-48297200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr3:48285600-48308200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr3:48285600-48312400	Weak transcription	Psoas Muscle	Psoas
24	chr3:48285800-48297600	Weak transcription	Aorta	Aorta
25	chr3:48285800-48300200	Weak transcription	Fetal Muscle Leg	muscle
26	chr3:48285800-48307600	Weak transcription	Pancreas	Pancrea
27	chr3:48285800-48310200	Weak transcription	Fetal Brain Male	brain
28	chr3:48285800-48311000	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr3:48286200-48295800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr3:48286400-48309400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr3:48287000-48297000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr3:48288400-48298200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr3:48288600-48295000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:48288600-48312800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr3:48288800-48293600	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr3:48288800-48295600	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr3:48289000-48293600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
38	chr3:48289200-48293600	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr3:48289200-48297400	Weak transcription	Brain Angular Gyrus	brain
40	chr3:48289200-48297800	Weak transcription	Primary B cells from cord blood	blood
41	chr3:48289200-48312000	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr3:48289200-48312600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:48289400-48293600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr3:48289600-48306800	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr3:48289800-48293600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr3:48289800-48293600	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr3:48289800-48307800	Weak transcription	Brain Anterior Caudate	brain
48	chr3:48290000-48293600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr3:48290000-48293600	Strong transcription	Stomach Smooth Muscle	stomach
50	chr3:48290000-48295600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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