Variant report

Variant	rs78015444
Chromosome Location	chr3:49986131-49986132
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49977495..49980410-chr3:49985163..49987874,2	K562	blood:

Variant related genes	Relation type
ENSG00000004534	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv834689	chr3:49962930-50085119	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv965334	chr3:49967342-50000012	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
5	nsv1012903	chr3:49978765-50071878	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv3463339	chr3:49986019-49993235	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3463340	chr3:49986019-49993235	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49978600-49986400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:49978600-49986800	Weak transcription	Left Ventricle	heart
3	chr3:49978600-49988800	Weak transcription	Aorta	Aorta
4	chr3:49978800-49986800	Weak transcription	Stomach Mucosa	stomach
5	chr3:49978800-49987000	Weak transcription	Small Intestine	intestine
6	chr3:49978800-49987400	Weak transcription	Brain Anterior Caudate	brain
7	chr3:49978800-49987400	Weak transcription	K562	blood
8	chr3:49978800-49987600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr3:49978800-49987600	Weak transcription	Brain Substantia Nigra	brain
10	chr3:49978800-49987600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr3:49978800-49987600	Weak transcription	A549	lung
12	chr3:49978800-49987600	Weak transcription	HUVEC	blood vessel
13	chr3:49978800-49987800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr3:49978800-50000600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr3:49978800-50004800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr3:49978800-50009600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr3:49978800-50009600	Weak transcription	Fetal Kidney	kidney
18	chr3:49978800-50041000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr3:49979000-49986800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr3:49979000-49987000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr3:49979000-49987400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:49979000-49987400	Weak transcription	Gastric	stomach
23	chr3:49979000-49987400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr3:49979000-49987400	Weak transcription	Hela-S3	cervix
25	chr3:49979000-49987400	Weak transcription	NH-A	brain
26	chr3:49979000-49987400	Weak transcription	NHEK	skin
27	chr3:49979000-49987600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:49979000-49987600	Weak transcription	Brain Hippocampus Middle	brain
29	chr3:49979000-49987600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr3:49979000-49987600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr3:49979000-49987600	Weak transcription	Fetal Heart	heart
32	chr3:49979000-49987600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr3:49979000-49987600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr3:49979000-49987600	Weak transcription	HMEC	breast
35	chr3:49979000-49987800	Weak transcription	Pancreas	Pancrea
36	chr3:49979000-49988800	Weak transcription	Spleen	Spleen
37	chr3:49979000-49990200	Weak transcription	Fetal Lung	lung
38	chr3:49979000-49990600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr3:49979000-49994600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr3:49979000-49997400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr3:49979000-50000000	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr3:49979000-50000600	Weak transcription	Primary T cells from cord blood	blood
43	chr3:49979000-50001000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr3:49979000-50003400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:49979000-50003600	Weak transcription	Right Ventricle	heart
46	chr3:49979000-50005200	Weak transcription	Fetal Muscle Trunk	muscle
47	chr3:49979000-50010200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr3:49979400-49986800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr3:49979400-49987000	Weak transcription	NHLF	lung
50	chr3:49979400-49987400	Weak transcription	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links