Variant report

Variant	rs2107448
Chromosome Location	chr7:21485102-21485103
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	chr7:21478973..21480916-chr7:21483691..21486071,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10239423	0.92[EUR][1000 genomes]
rs10241028	0.81[LWK][hapmap];0.80[YRI][hapmap]
rs10276352	0.89[CEU][hapmap];0.86[CHB][hapmap];0.94[CHD][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes]
rs1978154	0.84[CEU][hapmap];0.81[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.83[LWK][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.84[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2237305	0.91[CHD][hapmap];0.86[JPT][hapmap]
rs2282889	1.00[CEU][hapmap];0.81[CHB][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2282891	0.88[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2282893	0.91[CHD][hapmap]
rs2282894	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2282895	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2390534	0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs56099083	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6461563	0.85[LWK][hapmap];0.86[YRI][hapmap]
rs6943809	0.86[JPT][hapmap]
rs6954854	0.84[EUR][1000 genomes]
rs7778625	0.81[ASN][1000 genomes]
rs7790804	0.86[JPT][hapmap]
rs886498	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9639379	0.91[MEX][hapmap];0.89[AMR][1000 genomes]

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	nsv1027302	chr7:21391598-21727016	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv538800	chr7:21391598-21727016	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1028434	chr7:21468437-21636671	ZNF genes & repeats Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv971483	chr7:21479694-21488485	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21468400-21490600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:21468400-21497800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:21468600-21488600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr7:21468600-21495600	Weak transcription	Fetal Intestine Large	intestine
5	chr7:21468800-21489000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:21468800-21493600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:21470000-21488600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:21470000-21490400	Weak transcription	Fetal Kidney	kidney
9	chr7:21470000-21497800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:21470200-21488600	Weak transcription	Gastric	stomach
11	chr7:21470200-21490600	Weak transcription	Psoas Muscle	Psoas
12	chr7:21470200-21494400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr7:21470400-21488600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:21470400-21490600	Weak transcription	Pancreas	Pancrea
15	chr7:21470400-21494600	Weak transcription	Fetal Stomach	stomach
16	chr7:21470400-21516600	Weak transcription	Liver	Liver
17	chr7:21470400-21536400	Weak transcription	Esophagus	oesophagus
18	chr7:21470600-21490800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr7:21471600-21488400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:21471800-21486600	Weak transcription	Aorta	Aorta
21	chr7:21472000-21487200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr7:21472000-21488600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr7:21472000-21488800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:21472000-21489800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr7:21472000-21495200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr7:21472000-21495200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr7:21472800-21488200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:21472800-21488400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:21472800-21488600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr7:21472800-21490400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:21472800-21490400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:21472800-21490600	Weak transcription	Left Ventricle	heart
33	chr7:21472800-21490600	Weak transcription	Lung	lung
34	chr7:21472800-21492000	Weak transcription	Small Intestine	intestine
35	chr7:21472800-21506000	Weak transcription	Right Ventricle	heart
36	chr7:21473200-21486600	Weak transcription	Ovary	ovary
37	chr7:21473200-21488400	Weak transcription	Dnd41	blood
38	chr7:21473600-21489600	Weak transcription	Fetal Brain Male	brain
39	chr7:21474200-21493400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr7:21474800-21497200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:21474800-21520600	Weak transcription	Brain Angular Gyrus	brain
42	chr7:21476000-21486600	Weak transcription	Thymus	Thymus
43	chr7:21476200-21493200	Weak transcription	Brain Anterior Caudate	brain
44	chr7:21476400-21492400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr7:21477400-21488400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr7:21479000-21488600	Weak transcription	Fetal Intestine Small	intestine
47	chr7:21480800-21486600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr7:21480800-21490000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:21481000-21486000	Strong transcription	Primary B cells from peripheral blood	blood
50	chr7:21481000-21490400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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