Variant report

Variant	rs114773469
Chromosome Location	chr2:96858943-96858944
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:96856705..96859217-chr2:96930113..96931924,2	MCF-7	breast:
2	chr2:96857561..96859544-chr2:96890682..96892503,2	K562	blood:
3	chr2:96857503..96859061-chr2:96889984..96892182,2	K562	blood:
4	chr2:96856180..96863246-chr2:96870668..96875373,10	MCF-7	breast:
5	chr2:96857464..96859151-chr2:96962378..96965099,2	K562	blood:

Variant related genes	Relation type
ENSG00000135956	Chromatin interaction
ENSG00000144021	Chromatin interaction
ENSG00000204685	Chromatin interaction
ENSG00000084090	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription 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	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3435047	chr2:96836850-96890437	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv834305	chr2:96848898-97019476	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
9	nsv525780	chr2:96858914-96859034	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96842600-96861600	Weak transcription	Right Atrium	heart
2	chr2:96848600-96861400	Strong transcription	Thymus	Thymus
3	chr2:96848600-96861600	Strong transcription	Fetal Stomach	stomach
4	chr2:96849000-96860400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:96849200-96861400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:96849200-96861400	Strong transcription	Stomach Smooth Muscle	stomach
7	chr2:96849200-96861600	Strong transcription	Fetal Muscle Trunk	muscle
8	chr2:96849400-96861000	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:96849400-96861200	Strong transcription	Brain Hippocampus Middle	brain
10	chr2:96849600-96861000	Strong transcription	Lung	lung
11	chr2:96849600-96861400	Strong transcription	Primary B cells from peripheral blood	blood
12	chr2:96849600-96861400	Strong transcription	Fetal Thymus	thymus
13	chr2:96849600-96861600	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:96849600-96861600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr2:96849600-96862000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:96849600-96872600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr2:96849800-96861000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:96849800-96861200	Strong transcription	Liver	Liver
19	chr2:96849800-96861200	Strong transcription	Brain Germinal Matrix	brain
20	chr2:96849800-96861400	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr2:96849800-96861400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr2:96849800-96861400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:96849800-96861400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:96849800-96861400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:96849800-96861400	Strong transcription	Fetal Brain Female	brain
26	chr2:96849800-96861600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:96849800-96861800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:96849800-96861800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:96849800-96862200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:96849800-96871000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:96850000-96860800	Strong transcription	Brain Inferior Temporal Lobe	brain
32	chr2:96850000-96861200	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr2:96850000-96861200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr2:96850000-96861200	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:96850000-96861200	Strong transcription	Brain Cingulate Gyrus	brain
36	chr2:96850000-96861200	Strong transcription	Brain Substantia Nigra	brain
37	chr2:96850000-96861400	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:96850000-96861400	Strong transcription	Primary T cells from cord blood	blood
39	chr2:96850000-96861400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:96850000-96861400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:96850000-96861400	Strong transcription	Rectal Smooth Muscle	rectum
42	chr2:96850000-96861400	Strong transcription	Dnd41	blood
43	chr2:96850000-96861600	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:96850000-96861600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:96850000-96861600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:96850000-96861800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:96850000-96861800	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:96850000-96862200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:96850000-96862400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:96850200-96861200	Strong transcription	Primary T cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links