Variant report

Variant	rs6947298
Chromosome Location	chr7:21496512-21496513
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11984085	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17144480	1.00[ASN][1000 genomes]
rs17144489	1.00[ASN][1000 genomes]
rs17144492	1.00[ASN][1000 genomes]
rs17144497	1.00[ASN][1000 genomes]
rs17144560	0.84[ASN][1000 genomes]
rs2390537	1.00[ASN][1000 genomes]
rs6947670	1.00[AMR][1000 genomes]
rs73269762	1.00[AMR][1000 genomes]
rs73685140	0.92[ASN][1000 genomes]
rs7796350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9691700	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1023655	chr7:21486485-21727016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538801	chr7:21486485-21727016	ZNF genes & repeats Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv830921	chr7:21489100-21688016	Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21468400-21497800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:21470000-21497800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:21470400-21516600	Weak transcription	Liver	Liver
4	chr7:21470400-21536400	Weak transcription	Esophagus	oesophagus
5	chr7:21472800-21506000	Weak transcription	Right Ventricle	heart
6	chr7:21474800-21497200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:21474800-21520600	Weak transcription	Brain Angular Gyrus	brain
8	chr7:21487400-21557000	Weak transcription	Aorta	Aorta
9	chr7:21487600-21498400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:21489800-21496600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr7:21489800-21496600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:21489800-21497000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr7:21490200-21499000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr7:21490400-21496800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:21490400-21497600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr7:21491000-21526800	Weak transcription	Brain Hippocampus Middle	brain
17	chr7:21491000-21536400	Weak transcription	Left Ventricle	heart
18	chr7:21491200-21497800	Weak transcription	Pancreas	Pancrea
19	chr7:21491400-21503000	Weak transcription	Gastric	stomach
20	chr7:21491800-21502200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr7:21492200-21545200	Weak transcription	Small Intestine	intestine
22	chr7:21492800-21497400	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr7:21492800-21497600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
24	chr7:21493000-21539000	Weak transcription	Spleen	Spleen
25	chr7:21493600-21496600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:21493800-21496600	Strong transcription	Thymus	Thymus
27	chr7:21493800-21497200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr7:21493800-21529600	Weak transcription	Brain Anterior Caudate	brain
29	chr7:21494000-21500200	Strong transcription	Primary T cells from cord blood	blood
30	chr7:21494000-21501600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr7:21494000-21504600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr7:21494200-21496600	ZNF genes & repeats	GM12878-XiMat	blood
33	chr7:21494400-21505600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr7:21494400-21517400	Weak transcription	Fetal Kidney	kidney
35	chr7:21494600-21496600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr7:21494600-21497000	Strong transcription	Primary B cells from peripheral blood	blood
37	chr7:21494600-21499400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr7:21494800-21496800	Strong transcription	Fetal Thymus	thymus
39	chr7:21494800-21497200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:21494800-21500600	Strong transcription	Primary B cells from cord blood	blood
41	chr7:21495000-21497200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:21495000-21498400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:21495200-21496600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
44	chr7:21495200-21496600	ZNF genes & repeats	Adipose Nuclei	Adipose
45	chr7:21495200-21496600	ZNF genes & repeats	Fetal Muscle Leg	muscle
46	chr7:21495200-21497400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr7:21495200-21521600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:21495400-21496600	Strong transcription	Dnd41	blood
49	chr7:21495600-21501400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr7:21495800-21496600	Strong transcription	HUES48 Cell Line	embryonic stem cell

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