Variant report

Variant	rs4078534
Chromosome Location	chr17:16994621-16994622
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	chr17:16984318..16990325-chr17:16990439..16995530,6	K562	blood:
2	chr17:16944950..16947727-chr17:16993127..16994716,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133030	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12601193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12601424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12601453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12602196	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12602675	0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes]
rs16961340	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16961396	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2271521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2292528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3744124	0.85[CEU][hapmap]
rs3744126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3744135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3744142	0.86[CHB][hapmap]
rs3803762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3826304	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41319048	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4316813	1.00[JPT][hapmap]
rs4328504	0.81[ASN][1000 genomes]
rs6502557	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs6502565	1.00[CEU][hapmap]
rs7222600	1.00[CEU][hapmap]
rs8064771	1.00[JPT][hapmap]
rs8068857	0.84[JPT][hapmap]
rs8069241	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8069441	0.84[JPT][hapmap]
rs8072214	0.87[EUR][1000 genomes]
rs8076621	0.87[EUR][1000 genomes]
rs9908728	0.84[ASN][1000 genomes]
rs9909107	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	nsv1059280	chr17:16975059-17017957	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv960194	chr17:16992376-17000025	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16952600-16996400	Weak transcription	Fetal Brain Male	brain
2	chr17:16973600-16997600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr17:16974000-16995400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr17:16978800-16996800	Strong transcription	Dnd41	blood
5	chr17:16981600-16995000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr17:16981600-16995400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr17:16981800-16995400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr17:16982000-16995400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr17:16982000-16995400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr17:16982000-16995600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr17:16982800-16995400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr17:16983000-16996400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr17:16983400-16995400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr17:16985200-16996000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr17:16985600-16996800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr17:16986000-16995000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr17:16986000-16995800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr17:16986400-16995400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr17:16986800-16996000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr17:16986800-16997600	Weak transcription	NHDF-Ad	bronchial
21	chr17:16986800-17013600	Weak transcription	HUVEC	blood vessel
22	chr17:16987400-16996200	Genic enhancers	Fetal Muscle Trunk	muscle
23	chr17:16987400-16996200	Genic enhancers	Fetal Muscle Leg	muscle
24	chr17:16988000-16999800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr17:16988200-17000000	Weak transcription	Fetal Kidney	kidney
26	chr17:16988400-16996400	Genic enhancers	Placenta	Placenta
27	chr17:16988600-16995600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr17:16988800-17000600	Weak transcription	Aorta	Aorta
29	chr17:16989400-16995200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr17:16989400-16995800	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr17:16989600-16995000	Enhancers	Liver	Liver
32	chr17:16989600-16995000	Genic enhancers	HMEC	breast
33	chr17:16989600-16995600	Genic enhancers	Spleen	Spleen
34	chr17:16989600-16997400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr17:16989800-16995000	Genic enhancers	Lung	lung
36	chr17:16989800-16996400	Strong transcription	Primary B cells from cord blood	blood
37	chr17:16990000-16994800	Strong transcription	Fetal Brain Female	brain
38	chr17:16990200-16994800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr17:16990200-16996400	Strong transcription	Osteobl	bone
40	chr17:16990400-16995200	Genic enhancers	Brain Angular Gyrus	brain
41	chr17:16990400-16996600	Enhancers	Stomach Mucosa	stomach
42	chr17:16990600-16994800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr17:16990600-16996200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr17:16990800-16995000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr17:16990800-16995000	Genic enhancers	Right Ventricle	heart
46	chr17:16990800-16995800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr17:16991000-17000200	Weak transcription	GM12878-XiMat	blood
48	chr17:16991200-16995600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr17:16991400-16995000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr17:16991400-16996200	Genic enhancers	Gastric	stomach

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