Variant report

Variant	rs2396170
Chromosome Location	chr5:80769369-80769370
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:80763988..80765693-chr5:80769242..80771448,2	K562	blood:
2	chr5:80768944..80770618-chr5:80775514..80777278,2	K562	blood:
3	chr5:80764193..80766521-chr5:80769242..80771330,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10035291	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10036712	0.83[ASN][1000 genomes]
rs10041030	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10042303	0.84[ASN][1000 genomes]
rs10043164	0.81[ASN][1000 genomes]
rs10056711	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10068144	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10075648	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10474031	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10942266	0.94[ASN][1000 genomes]
rs11739075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12697705	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13159500	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13171682	0.98[ASN][1000 genomes]
rs1541830	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2162973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34150522	0.81[ASN][1000 genomes]
rs34699788	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35224297	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6452407	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6452410	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6452411	0.85[ASN][1000 genomes]
rs6452412	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6452414	0.83[ASN][1000 genomes]
rs6452415	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6866156	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6866741	0.84[ASN][1000 genomes]
rs6868422	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6868748	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6872775	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6872793	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6874237	0.86[ASN][1000 genomes]
rs6877102	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6878037	0.80[ASN][1000 genomes]
rs6883488	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6887937	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6897189	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7711020	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7719373	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7725126	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7733938	0.81[ASN][1000 genomes]
rs7737895	0.82[EUR][1000 genomes]
rs9293275	0.85[ASN][1000 genomes]
rs9596	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs964102	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1028498	chr5:80712364-80860430	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80703200-80779200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:80735400-80778600	Weak transcription	Aorta	Aorta
3	chr5:80736000-80771200	Weak transcription	NHDF-Ad	bronchial
4	chr5:80739800-80773200	Strong transcription	Fetal Thymus	thymus
5	chr5:80740400-80769400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:80745200-80771400	Weak transcription	Gastric	stomach
7	chr5:80747000-80769600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:80747200-80769600	Weak transcription	HMEC	breast
9	chr5:80748600-80771200	Weak transcription	Lung	lung
10	chr5:80756200-80769400	Weak transcription	GM12878-XiMat	blood
11	chr5:80758000-80774000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:80759600-80773200	Strong transcription	Dnd41	blood
13	chr5:80764200-80769600	Weak transcription	Fetal Heart	heart
14	chr5:80766200-80800000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr5:80766600-80771200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:80767400-80769400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:80767600-80770000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:80767600-80770000	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr5:80767800-80769400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:80767800-80770000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:80767800-80770400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr5:80768000-80769400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr5:80768000-80769600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:80768000-80770000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr5:80768000-80770000	Strong transcription	Left Ventricle	heart
26	chr5:80768000-80770400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:80768400-80769400	Strong transcription	Brain Germinal Matrix	brain
28	chr5:80768400-80769400	Weak transcription	Small Intestine	intestine
29	chr5:80768400-80769800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr5:80768400-80770000	Strong transcription	Thymus	Thymus
31	chr5:80768400-80770400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:80768400-80770400	Strong transcription	Fetal Stomach	stomach
33	chr5:80768400-80770400	Strong transcription	Ovary	ovary
34	chr5:80768400-80770600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr5:80768400-80770800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr5:80768400-80770800	Weak transcription	Spleen	Spleen
37	chr5:80768600-80769400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr5:80768600-80769400	Strong transcription	Primary hematopoietic stem cells	blood
39	chr5:80768600-80769400	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr5:80768600-80769400	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr5:80768600-80770000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:80768600-80770000	Strong transcription	Duodenum Mucosa	Duodenum
43	chr5:80768600-80770200	Strong transcription	Adipose Nuclei	Adipose
44	chr5:80768600-80770200	Strong transcription	Stomach Smooth Muscle	stomach
45	chr5:80768600-80771000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr5:80768600-80771200	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr5:80768800-80769400	Strong transcription	Primary B cells from cord blood	blood
48	chr5:80768800-80769400	Strong transcription	Fetal Lung	lung
49	chr5:80768800-80769600	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr5:80768800-80769600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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