Variant report

Variant	rs368471353
Chromosome Location	chr14:103949019-103949020
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:103948825..103951654-chr14:103995758..103998626,2	K562	blood:

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	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
4	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv525874	chr14:103937372-103950368	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv1829466	chr14:103937582-103954794	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv1835815	chr14:103942991-103989757	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
8	nsv85551	chr14:103948122-103951588	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103922400-103955000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:103923000-103949400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:103923200-103976800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:103923600-103967000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:103924000-103957400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:103925600-103958400	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr14:103926200-103950400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr14:103926800-103963400	Strong transcription	Fetal Intestine Large	intestine
9	chr14:103927800-103949200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:103927800-103951000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr14:103927800-103951600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr14:103927800-103979800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr14:103928600-103950800	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr14:103930600-103951800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:103931600-103949400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:103931600-103955000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:103932000-103953800	Strong transcription	Fetal Muscle Leg	muscle
18	chr14:103938000-103949600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr14:103938000-103950200	Weak transcription	Stomach Mucosa	stomach
20	chr14:103939200-103949600	Strong transcription	Stomach Smooth Muscle	stomach
21	chr14:103939200-103950800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:103939200-103951000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr14:103939200-103951000	Strong transcription	Liver	Liver
24	chr14:103939200-103951000	Strong transcription	Placenta	Placenta
25	chr14:103939200-103966200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:103939400-103950400	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr14:103939400-103950800	Strong transcription	Dnd41	blood
28	chr14:103939400-103952200	Strong transcription	Fetal Muscle Trunk	muscle
29	chr14:103939400-103956000	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr14:103939600-103949800	Strong transcription	Osteobl	bone
31	chr14:103940200-103954800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:103940400-103950400	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr14:103940400-103950800	Strong transcription	Adipose Nuclei	Adipose
34	chr14:103940400-103951000	Strong transcription	Brain Hippocampus Middle	brain
35	chr14:103941200-103949200	Strong transcription	NHEK	skin
36	chr14:103941400-103949200	Strong transcription	Fetal Brain Female	brain
37	chr14:103941600-103949800	Strong transcription	HUVEC	blood vessel
38	chr14:103941600-103953800	Weak transcription	Small Intestine	intestine
39	chr14:103942800-103956000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr14:103942800-103957200	Weak transcription	Brain Angular Gyrus	brain
41	chr14:103942800-103966400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr14:103943200-103969200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr14:103943400-103949200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr14:103943400-103950000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr14:103943400-103953800	Weak transcription	Right Ventricle	heart
46	chr14:103943400-103954800	Weak transcription	Fetal Heart	heart
47	chr14:103943400-103958200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr14:103943600-103951800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:103943600-103953800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr14:103944200-103955600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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