Variant report

Variant	rs17001606
Chromosome Location	chr4:77111481-77111482
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:77068157..77072103-chr4:77105294..77112080,6	K562	blood:

Variant related genes	Relation type
ENSG00000138750	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11937264	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11938195	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1348209	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1372410	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1372411	1.00[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]
rs1465923	0.82[JPT][hapmap]
rs1542092	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1542093	1.00[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]
rs1542094	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1542095	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17001391	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs17001392	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs17001393	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs17001395	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs17001396	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs17001398	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs17001534	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17001542	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17001551	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17001559	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17001593	1.00[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]
rs17001598	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17001601	1.00[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]
rs17001633	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2165587	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28370991	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs35442986	0.84[ASN][1000 genomes]
rs3733255	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3733256	0.94[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4416503	1.00[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]
rs4639101	1.00[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]
rs6856609	0.86[JPT][hapmap]
rs73826361	0.84[ASN][1000 genomes]
rs7436214	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7436661	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7682766	0.86[JPT][hapmap]

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:120 , 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	chr4:77080600-77113600	Weak transcription	Thymus	Thymus
4	chr4:77083200-77112600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:77090000-77113600	Weak transcription	A549	lung
6	chr4:77090200-77113000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:77090200-77114800	Weak transcription	Hela-S3	cervix
8	chr4:77091000-77114200	Weak transcription	HMEC	breast
9	chr4:77094400-77113800	Weak transcription	Fetal Thymus	thymus
10	chr4:77095000-77113400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr4:77096200-77113200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr4:77096200-77113400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr4:77096800-77114000	Weak transcription	Small Intestine	intestine
14	chr4:77097000-77113200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:77097000-77113200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:77097000-77113200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr4:77097200-77112400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr4:77097200-77113600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:77097400-77113400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr4:77097400-77113400	Weak transcription	Fetal Brain Male	brain
21	chr4:77097400-77115000	Weak transcription	NH-A	brain
22	chr4:77097600-77119600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:77097800-77113400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr4:77098000-77113000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr4:77100000-77112600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr4:77100400-77113000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:77100800-77112200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr4:77101000-77113400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr4:77101400-77112200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr4:77101400-77112400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:77101400-77113000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:77101400-77113000	Weak transcription	Dnd41	blood
33	chr4:77101400-77113400	Weak transcription	HSMMtube	muscle
34	chr4:77101400-77114200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:77101600-77112400	Weak transcription	Brain Germinal Matrix	brain
36	chr4:77104000-77112400	Weak transcription	NHEK	skin
37	chr4:77104600-77113800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr4:77105600-77115000	Weak transcription	Fetal Heart	heart
39	chr4:77107200-77113200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:77107200-77113200	Weak transcription	Fetal Kidney	kidney
41	chr4:77107400-77112400	Enhancers	Brain Substantia Nigra	brain
42	chr4:77107400-77113000	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr4:77107600-77112000	Weak transcription	NHDF-Ad	bronchial
44	chr4:77107600-77112600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr4:77107600-77113400	Weak transcription	Spleen	Spleen
46	chr4:77107800-77112400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr4:77107800-77112600	Weak transcription	Aorta	Aorta
48	chr4:77107800-77112600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr4:77107800-77113000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr4:77107800-77113600	Weak transcription	HepG2	liver

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