Variant report

Variant	rs894248
Chromosome Location	chr4:77100901-77100902
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:77100858..77102558-chr4:77153141..77154759,2	MCF-7	breast:
2	chr4:77058522..77060950-chr4:77099295..77101938,2	MCF-7	breast:
3	chr4:77100761..77101387-chr4:77166867..77167817,2	MCF-7	breast:
4	chr4:77100837..77101592-chr4:77342165..77343074,2	MCF-7	breast:
5	chr4:77100730..77101561-chr4:77288471..77289108,2	K562	blood:
6	chr4:77100834..77101731-chr4:77299299..77299831,3	MCF-7	breast:
7	chr4:77099739..77102113-chr4:77107352..77109592,2	K562	blood:
8	chr4:77100696..77102107-chr4:77298493..77299821,12	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163749	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs12499900	1.00[CEU][hapmap]
rs12641190	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13111705	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13117802	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13119254	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1441923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1470191	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1470192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1470193	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470194	0.98[EUR][1000 genomes]
rs1550556	0.96[EUR][1000 genomes]
rs17001416	1.00[CEU][hapmap]
rs17001588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17001589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17001604	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2034002	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2034003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2053486	1.00[CEU][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs2053487	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2304813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2304814	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2869854	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34022163	0.98[EUR][1000 genomes]
rs34334700	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34974381	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35583533	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35783378	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36035650	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36081173	0.98[EUR][1000 genomes]
rs3796497	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3853188	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3853189	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3853190	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3866353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3866354	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4452450	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4634246	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4859425	1.00[CEU][hapmap];0.89[CHD][hapmap];0.81[TSI][hapmap]
rs4859426	1.00[CEU][hapmap];0.90[CHD][hapmap];0.90[TSI][hapmap]
rs4859428	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4859623	0.96[EUR][1000 genomes]
rs4859624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859625	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4859627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4859628	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4859629	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4859631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67653006	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67917805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6824367	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs6831345	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6851995	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72857046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72857048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7664889	1.00[CEU][hapmap];0.97[GIH][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes]
rs7691447	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs894244	0.98[EUR][1000 genomes]
rs894247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv594693	chr4:77033590-77101068	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1000539	chr4:77042356-77105492	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	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
6	esv995458	chr4:77093764-77102178	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 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	chr4:77079400-77101400	Strong transcription	Fetal Muscle Trunk	muscle
4	chr4:77079400-77108200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr4:77079600-77101200	Strong transcription	Duodenum Mucosa	Duodenum
6	chr4:77079600-77101400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:77079800-77101000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr4:77080600-77113600	Weak transcription	Thymus	Thymus
9	chr4:77080800-77101200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:77080800-77101200	Strong transcription	NHDF-Ad	bronchial
11	chr4:77082400-77101400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:77083200-77112600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:77087000-77101400	Strong transcription	Fetal Lung	lung
14	chr4:77088200-77101400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:77090000-77113600	Weak transcription	A549	lung
16	chr4:77090200-77113000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr4:77090200-77114800	Weak transcription	Hela-S3	cervix
18	chr4:77090400-77107000	Weak transcription	Aorta	Aorta
19	chr4:77091000-77114200	Weak transcription	HMEC	breast
20	chr4:77092000-77101000	Strong transcription	Primary T cells from cord blood	blood
21	chr4:77092600-77101000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:77094400-77113800	Weak transcription	Fetal Thymus	thymus
23	chr4:77095000-77113400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr4:77095400-77101200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr4:77095400-77107000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:77095600-77103600	Weak transcription	NHEK	skin
27	chr4:77095800-77107000	Weak transcription	Esophagus	oesophagus
28	chr4:77096200-77107000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:77096200-77107000	Weak transcription	Spleen	Spleen
30	chr4:77096200-77113200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr4:77096200-77113400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:77096600-77107000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:77096600-77107000	Weak transcription	Gastric	stomach
34	chr4:77096800-77114000	Weak transcription	Small Intestine	intestine
35	chr4:77097000-77113200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr4:77097000-77113200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr4:77097000-77113200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr4:77097200-77102400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr4:77097200-77112400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr4:77097200-77113600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:77097400-77113400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr4:77097400-77113400	Weak transcription	Fetal Brain Male	brain
43	chr4:77097400-77115000	Weak transcription	NH-A	brain
44	chr4:77097600-77106600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:77097600-77107000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr4:77097600-77119600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr4:77097800-77113400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr4:77098000-77101200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr4:77098000-77101200	Weak transcription	Lung	lung
50	chr4:77098000-77113000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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