Variant report

Variant	rs375536774
Chromosome Location	chr3:49765632-49765633
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:49765039-49765796	K562	blood:	n/a	n/a
2	POLR2A	chr3:49757760-49765712	HepG2	liver:	n/a	n/a
3	POLR2A	chr3:49765411-49765747	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr3:49765541-49765662	MCF-7	breast:	n/a	n/a
5	POLR2A	chr3:49765473-49765718	MCF-7	breast:	n/a	n/a
6	POLR2A	chr3:49765243-49765690	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr3:49765528-49765665	K562	blood:	n/a	n/a
8	POLR2A	chr3:49765441-49765652	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49761055..49763701-chr3:49764283..49769369,4	MCF-7	breast:

Variant related genes	Relation type
AMIGO3	TF binding region
GMPPB	TF binding region
ENSG00000173540	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508217	chr3:49615446-49769896	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	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
3	nsv967216	chr3:49764885-49776535	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49762000-49770000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:49762000-49773800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:49762000-49775000	Weak transcription	Psoas Muscle	Psoas
4	chr3:49762000-49778000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:49762200-49765800	Enhancers	Stomach Mucosa	stomach
6	chr3:49762200-49765800	Strong transcription	NHLF	lung
7	chr3:49762200-49768800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr3:49762200-49769000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr3:49762400-49765800	Strong transcription	Brain Hippocampus Middle	brain
10	chr3:49762400-49766000	Strong transcription	Fetal Lung	lung
11	chr3:49762400-49766400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:49762400-49768800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr3:49762400-49768800	Weak transcription	HUVEC	blood vessel
14	chr3:49762400-49771000	Strong transcription	Brain Inferior Temporal Lobe	brain
15	chr3:49762400-49772200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr3:49762400-49773000	Weak transcription	Fetal Heart	heart
17	chr3:49762400-49776800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:49762400-49781600	Strong transcription	Fetal Stomach	stomach
19	chr3:49762600-49765800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr3:49762600-49765800	Strong transcription	Lung	lung
21	chr3:49762600-49765800	Strong transcription	Right Ventricle	heart
22	chr3:49762600-49766000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:49762600-49766000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:49762600-49766000	Strong transcription	Brain Angular Gyrus	brain
25	chr3:49762600-49766000	Strong transcription	Thymus	Thymus
26	chr3:49762600-49768400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:49762600-49768400	Weak transcription	Fetal Brain Male	brain
28	chr3:49762600-49770400	Strong transcription	Brain Germinal Matrix	brain
29	chr3:49762600-49774600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:49762600-49776400	Strong transcription	Fetal Brain Female	brain
31	chr3:49762600-49776800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:49762600-49777000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:49762600-49777200	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr3:49762600-49777600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr3:49762600-49781800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr3:49762600-49785200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:49762600-49809000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr3:49762800-49765800	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr3:49762800-49765800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:49762800-49765800	Genic enhancers	Primary B cells from peripheral blood	blood
41	chr3:49762800-49765800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr3:49762800-49765800	Strong transcription	Adipose Nuclei	Adipose
43	chr3:49762800-49765800	Strong transcription	Brain Anterior Caudate	brain
44	chr3:49762800-49765800	Strong transcription	Stomach Smooth Muscle	stomach
45	chr3:49762800-49765800	Strong transcription	Spleen	Spleen
46	chr3:49762800-49766000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr3:49762800-49766000	Strong transcription	Brain Substantia Nigra	brain
48	chr3:49762800-49766600	Strong transcription	Colon Smooth Muscle	Colon
49	chr3:49762800-49766600	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr3:49762800-49770000	Strong transcription	Fetal Intestine Small	intestine

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