Variant report

Variant	rs6978922
Chromosome Location	chr7:21498873-21498874
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10269168	0.98[ASN][1000 genomes]
rs10272006	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11971316	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11983472	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12668354	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12672629	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12673975	0.98[ASN][1000 genomes]
rs2158414	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2282888	0.94[ASN][1000 genomes]
rs2390539	0.85[ASN][1000 genomes]
rs28541530	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3735440	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs40245	0.83[ASN][1000 genomes]
rs41495348	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4397283	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4722031	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4722033	0.85[ASN][1000 genomes]
rs6461561	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6461562	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6461565	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6461567	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6461568	0.98[ASN][1000 genomes]
rs6948810	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6974974	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7780553	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7781732	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7796796	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7798894	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7810841	0.82[AMR][1000 genomes]
rs9639377	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9639378	0.91[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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21470400-21516600	Weak transcription	Liver	Liver
2	chr7:21470400-21536400	Weak transcription	Esophagus	oesophagus
3	chr7:21472800-21506000	Weak transcription	Right Ventricle	heart
4	chr7:21474800-21520600	Weak transcription	Brain Angular Gyrus	brain
5	chr7:21487400-21557000	Weak transcription	Aorta	Aorta
6	chr7:21490200-21499000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr7:21491000-21526800	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:21491000-21536400	Weak transcription	Left Ventricle	heart
9	chr7:21491400-21503000	Weak transcription	Gastric	stomach
10	chr7:21491800-21502200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr7:21492200-21545200	Weak transcription	Small Intestine	intestine
12	chr7:21493000-21539000	Weak transcription	Spleen	Spleen
13	chr7:21493800-21529600	Weak transcription	Brain Anterior Caudate	brain
14	chr7:21494000-21500200	Strong transcription	Primary T cells from cord blood	blood
15	chr7:21494000-21501600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr7:21494000-21504600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:21494400-21505600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr7:21494400-21517400	Weak transcription	Fetal Kidney	kidney
19	chr7:21494600-21499400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr7:21494800-21500600	Strong transcription	Primary B cells from cord blood	blood
21	chr7:21495200-21521600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:21495600-21501400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr7:21495800-21499000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:21495800-21516800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:21496000-21499200	Weak transcription	Fetal Brain Female	brain
26	chr7:21496000-21500600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:21496000-21502800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr7:21496000-21516600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr7:21496000-21519200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr7:21496200-21499000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr7:21496200-21499200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr7:21496200-21499800	Weak transcription	Brain Germinal Matrix	brain
33	chr7:21496200-21500800	Weak transcription	Fetal Intestine Large	intestine
34	chr7:21496200-21505400	Weak transcription	Ovary	ovary
35	chr7:21496200-21517800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr7:21496400-21499200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr7:21496600-21499000	Weak transcription	GM12878-XiMat	blood
38	chr7:21496600-21499200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr7:21496600-21499600	Weak transcription	Fetal Intestine Small	intestine
40	chr7:21496600-21500800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr7:21496600-21501400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:21496600-21503000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:21496600-21517600	Weak transcription	Dnd41	blood
44	chr7:21496600-21521600	Weak transcription	Adipose Nuclei	Adipose
45	chr7:21496800-21517600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:21497000-21499200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr7:21497200-21516200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:21497400-21499000	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr7:21497400-21499200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr7:21497600-21499600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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