Variant report

Variant	rs17027639
Chromosome Location	chr4:99436066-99436067
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:99435334..99436328-chr4:99582677..99583524,3	MCF-7	breast:
2	chr4:99422538..99424053-chr4:99435323..99437537,2	K562	blood:
3	chr4:99435319..99436156-chr4:99495025..99495627,2	MCF-7	breast:
4	chr4:99426719..99427659-chr4:99435387..99436315,6	MCF-7	breast:
5	chr4:99426719..99427556-chr4:99435387..99436160,4	MCF-7	breast:
6	chr4:99435732..99436328-chr4:99582688..99583524,2	MCF-7	breast:
7	chr4:99429986..99431627-chr4:99434644..99437032,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11938479	1.00[JPT][hapmap]
rs12507322	1.00[ASW][hapmap]
rs1528548	1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs1547382	1.00[MEX][hapmap]
rs17027645	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17027662	1.00[AFR][1000 genomes]
rs17027806	1.00[JPT][hapmap]
rs4699654	0.92[TSI][hapmap]
rs4699657	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529623	chr4:98501338-99460166	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv879651	chr4:99105055-99441349	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99397600-99439400	Weak transcription	Primary B cells from cord blood	blood
2	chr4:99417800-99438600	Weak transcription	Right Atrium	heart
3	chr4:99419600-99436400	Weak transcription	HUVEC	blood vessel
4	chr4:99420400-99436400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr4:99420400-99436400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:99425000-99436200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr4:99431200-99436200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:99431200-99439600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:99431200-99443600	Weak transcription	Fetal Brain Male	brain
10	chr4:99431400-99436200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:99431400-99436400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:99431400-99436600	Weak transcription	Brain Germinal Matrix	brain
13	chr4:99431600-99436600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:99431800-99438600	Weak transcription	Stomach Mucosa	stomach
15	chr4:99432200-99436200	Weak transcription	HSMM	muscle
16	chr4:99432200-99436600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:99432200-99438600	Weak transcription	Brain Angular Gyrus	brain
18	chr4:99432400-99436400	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:99432400-99437000	Weak transcription	HSMMtube	muscle
20	chr4:99432600-99436400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:99432600-99436400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr4:99432600-99436400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr4:99432600-99436400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr4:99432600-99436400	Weak transcription	Fetal Stomach	stomach
25	chr4:99432600-99436600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr4:99432600-99438000	Weak transcription	Thymus	Thymus
27	chr4:99432800-99436400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:99432800-99436400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr4:99432800-99436400	Weak transcription	Dnd41	blood
30	chr4:99432800-99436600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:99432800-99436800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:99432800-99438200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr4:99432800-99439600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr4:99433000-99436400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:99433000-99443200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr4:99433200-99436200	Weak transcription	NHDF-Ad	bronchial
37	chr4:99433400-99438000	Enhancers	Fetal Heart	heart
38	chr4:99434000-99441600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:99434200-99440000	Enhancers	NHEK	skin
40	chr4:99434400-99436200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr4:99434400-99443800	Weak transcription	Aorta	Aorta
42	chr4:99434600-99436200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:99434600-99436200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:99434800-99436200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:99434800-99436600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:99435000-99436200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:99435400-99436200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr4:99435400-99439000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:99435600-99436600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr4:99435600-99436600	Enhancers	Fetal Thymus	thymus

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