Variant report

Variant	rs17001588
Chromosome Location	chr4:77106137-77106138
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:77102596..77104990-chr4:77105055..77107481,2	MCF-7	breast:
2	chr4:77103626..77106900-chr4:77107437..77109558,3	K562	blood:
3	chr4:77068157..77072103-chr4:77105294..77112080,6	K562	blood:
4	chr4:77102384..77104686-chr4:77104810..77107363,2	K562	blood:

Variant related genes	Relation type
ENSG00000138750	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs12641190	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13111705	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13117802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13119254	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1441923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470191	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1470192	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1470193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1470194	0.96[EUR][1000 genomes]
rs1550556	0.95[EUR][1000 genomes]
rs17001589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17001604	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2034002	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2034003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2053486	0.95[EUR][1000 genomes]
rs2053487	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2304813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2304814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2869854	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34022163	0.96[EUR][1000 genomes]
rs34334700	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34974381	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35583533	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35783378	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36035650	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36081173	0.96[EUR][1000 genomes]
rs3796497	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3853188	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3853189	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3853190	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3866353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3866354	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4452450	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4634246	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4859428	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4859623	0.95[EUR][1000 genomes]
rs4859624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4859625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4859628	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4859629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4859631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67653006	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67917805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6824367	0.96[EUR][1000 genomes]
rs6831345	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6851995	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72857046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72857048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7664889	0.91[EUR][1000 genomes]
rs7691447	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs894244	0.96[EUR][1000 genomes]
rs894247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs894248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461558	chr4:77033725-77115553	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv594694	chr4:77033725-77115553	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv1000178	chr4:77053046-77113080	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77070600-77113600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:77071200-77113600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:77079400-77108200	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr4:77080600-77113600	Weak transcription	Thymus	Thymus
5	chr4:77083200-77112600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:77090000-77113600	Weak transcription	A549	lung
7	chr4:77090200-77113000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:77090200-77114800	Weak transcription	Hela-S3	cervix
9	chr4:77090400-77107000	Weak transcription	Aorta	Aorta
10	chr4:77091000-77114200	Weak transcription	HMEC	breast
11	chr4:77094400-77113800	Weak transcription	Fetal Thymus	thymus
12	chr4:77095000-77113400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr4:77095400-77107000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:77095800-77107000	Weak transcription	Esophagus	oesophagus
15	chr4:77096200-77107000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:77096200-77107000	Weak transcription	Spleen	Spleen
17	chr4:77096200-77113200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr4:77096200-77113400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr4:77096600-77107000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:77096600-77107000	Weak transcription	Gastric	stomach
21	chr4:77096800-77114000	Weak transcription	Small Intestine	intestine
22	chr4:77097000-77113200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr4:77097000-77113200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr4:77097000-77113200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr4:77097200-77112400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr4:77097200-77113600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr4:77097400-77113400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr4:77097400-77113400	Weak transcription	Fetal Brain Male	brain
29	chr4:77097400-77115000	Weak transcription	NH-A	brain
30	chr4:77097600-77106600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:77097600-77107000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr4:77097600-77119600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr4:77097800-77113400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr4:77098000-77113000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr4:77100000-77107200	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr4:77100000-77112600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr4:77100200-77106800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:77100400-77107000	Weak transcription	HepG2	liver
39	chr4:77100400-77107200	Weak transcription	Psoas Muscle	Psoas
40	chr4:77100400-77113000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:77100800-77112200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr4:77101000-77106200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr4:77101000-77107000	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr4:77101000-77107000	Weak transcription	Colonic Mucosa	Colon
45	chr4:77101000-77107000	Weak transcription	HUVEC	blood vessel
46	chr4:77101000-77110200	Weak transcription	Primary T cells from cord blood	blood
47	chr4:77101000-77113400	Weak transcription	Primary B cells from peripheral blood	blood
48	chr4:77101200-77106200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:77101200-77106200	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr4:77101200-77107200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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