Variant report

Variant	rs2158414
Chromosome Location	chr7:21491021-21491022
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	chr7:21466396..21468469-chr7:21489112..21491028,2	K562	blood:

Variant related genes	Relation type
ENSG00000105866	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1013716	0.86[CHB][hapmap]
rs10269168	0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10272006	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11971316	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11983472	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12668354	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12672629	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12673975	0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2237303	0.81[AMR][1000 genomes]
rs2282888	1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2390539	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28541530	0.91[ASN][1000 genomes]
rs3735440	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs40245	0.85[JPT][hapmap];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs41495348	0.81[ASN][1000 genomes]
rs4397283	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4722031	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4722033	0.83[ASN][1000 genomes]
rs6461561	0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6461562	0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6461565	0.86[CHB][hapmap]
rs6461567	0.93[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6461568	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6948810	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6974974	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6978922	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7780553	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7781732	0.88[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7796796	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7798894	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs9639377	0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9639378	1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[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:68 , 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	chr7:21468600-21495600	Weak transcription	Fetal Intestine Large	intestine
3	chr7:21468800-21493600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:21470000-21497800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:21470200-21494400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr7:21470400-21494600	Weak transcription	Fetal Stomach	stomach
7	chr7:21470400-21516600	Weak transcription	Liver	Liver
8	chr7:21470400-21536400	Weak transcription	Esophagus	oesophagus
9	chr7:21472000-21495200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr7:21472000-21495200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:21472800-21492000	Weak transcription	Small Intestine	intestine
12	chr7:21472800-21506000	Weak transcription	Right Ventricle	heart
13	chr7:21474200-21493400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr7:21474800-21497200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:21474800-21520600	Weak transcription	Brain Angular Gyrus	brain
16	chr7:21476200-21493200	Weak transcription	Brain Anterior Caudate	brain
17	chr7:21476400-21492400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:21484000-21493600	Weak transcription	Fetal Lung	lung
19	chr7:21485400-21495200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:21487400-21557000	Weak transcription	Aorta	Aorta
21	chr7:21487600-21498400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr7:21488200-21495800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
23	chr7:21489000-21491800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:21489000-21492600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:21489000-21493200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr7:21489000-21495400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:21489800-21496600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
28	chr7:21489800-21496600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:21489800-21497000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr7:21490000-21491200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:21490000-21491400	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr7:21490000-21491800	ZNF genes & repeats	Dnd41	blood
33	chr7:21490200-21491800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
34	chr7:21490200-21499000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr7:21490400-21491200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr7:21490400-21491200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
37	chr7:21490400-21491600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:21490400-21492200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
39	chr7:21490400-21492600	ZNF genes & repeats	Fetal Intestine Small	intestine
40	chr7:21490400-21493200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:21490400-21494800	ZNF genes & repeats	Primary B cells from cord blood	blood
42	chr7:21490400-21496200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
43	chr7:21490400-21496400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:21490400-21496800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:21490400-21497600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
46	chr7:21490600-21491200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
47	chr7:21490600-21491200	Enhancers	Ovary	ovary
48	chr7:21490600-21491200	Enhancers	Pancreas	Pancrea
49	chr7:21490600-21491400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:21490600-21491400	Enhancers	Fetal Thymus	thymus

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