Variant report

Variant	rs7355307
Chromosome Location	chr2:48694790-48694791
allele	C/T
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	BCL3	chr2:48694574-48694865	GM12878	blood:	n/a	n/a
2	BCL3	chr2:48694580-48694941	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48694010..48695584-chr2:48696649..48698358,2	MCF-7	breast:

Variant related genes	Relation type
PPP1R21	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10185212	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11677398	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12477901	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs13386132	1.00[CEU][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3811520	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs4328683	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4371401	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs4429520	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs4430989	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs4464333	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs4952913	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs4953574	1.00[EUR][1000 genomes]
rs4953584	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs4953585	1.00[EUR][1000 genomes]
rs4953588	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs4953590	0.87[EUR][1000 genomes]
rs6545040	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs6545043	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs6545044	1.00[CEU][hapmap]
rs6715766	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs6756820	1.00[CEU][hapmap];0.85[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7557764	1.00[EUR][1000 genomes]
rs7577850	0.81[CHB][hapmap];0.87[JPT][hapmap];1.00[EUR][1000 genomes]
rs7608588	1.00[CEU][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv581775	chr2:48619869-48714938	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1005954	chr2:48692696-48905723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv535682	chr2:48692696-48905723	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr2:48669200-48698200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:48673000-48697400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:48673200-48724000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:48677800-48699600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:48678000-48696400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:48678200-48696400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:48678200-48698800	Strong transcription	Fetal Thymus	thymus
8	chr2:48678200-48700000	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr2:48678400-48695600	Strong transcription	Dnd41	blood
10	chr2:48678400-48699400	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:48678400-48699400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:48678800-48695600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr2:48678800-48696200	Strong transcription	Duodenum Mucosa	Duodenum
14	chr2:48678800-48696400	Strong transcription	Fetal Muscle Trunk	muscle
15	chr2:48679000-48696400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:48679000-48696600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:48679200-48695800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:48679200-48696200	Strong transcription	Primary T cells from cord blood	blood
19	chr2:48679600-48697800	Weak transcription	Fetal Heart	heart
20	chr2:48680000-48696200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr2:48680000-48706200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:48680400-48695800	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:48680800-48696600	Strong transcription	Liver	Liver
24	chr2:48681000-48696400	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr2:48681200-48699400	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr2:48681600-48695400	Strong transcription	HepG2	liver
27	chr2:48681600-48696200	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:48681600-48696200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:48681600-48696200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
30	chr2:48681600-48696400	Strong transcription	Fetal Intestine Large	intestine
31	chr2:48681600-48696800	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:48681800-48696000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:48681800-48696200	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr2:48681800-48696400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:48681800-48696400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:48681800-48696400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:48682600-48716200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:48683200-48696200	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr2:48683200-48697200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:48685000-48696400	Strong transcription	Fetal Brain Female	brain
41	chr2:48685200-48695400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:48685400-48696200	Strong transcription	Brain Anterior Caudate	brain
43	chr2:48685600-48696200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:48685800-48696400	Strong transcription	Fetal Muscle Leg	muscle
45	chr2:48686600-48696400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:48686600-48696400	Strong transcription	Stomach Smooth Muscle	stomach
47	chr2:48686800-48696400	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr2:48687400-48696200	Strong transcription	Brain Hippocampus Middle	brain
49	chr2:48687600-48699000	Strong transcription	Placenta	Placenta
50	chr2:48687600-48707200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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