Variant report

Variant	rs1010647
Chromosome Location	chr5:17247153-17247154
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:17213412..17218667-chr5:17245448..17250962,7	MCF-7	breast:
2	chr5:17218817..17220341-chr5:17246031..17248569,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176788	Chromatin interaction
ENSG00000215196	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1384265	1.00[ASN][1000 genomes]
rs1482342	1.00[ASN][1000 genomes]
rs2731793	1.00[ASN][1000 genomes]
rs4580778	0.82[EUR][1000 genomes];1.00[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	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv830218	chr5:17093162-17290045	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1029959	chr5:17133214-17455995	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17229000-17258000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:17229800-17261600	Weak transcription	Fetal Stomach	stomach
3	chr5:17232000-17259200	Weak transcription	Fetal Muscle Leg	muscle
4	chr5:17232400-17254400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:17232800-17247400	Genic enhancers	A549	lung
6	chr5:17232800-17249000	Weak transcription	Placenta	Placenta
7	chr5:17232800-17251400	Weak transcription	GM12878-XiMat	blood
8	chr5:17232800-17255600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:17232800-17260000	Weak transcription	Fetal Kidney	kidney
10	chr5:17232800-17278800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:17233000-17255600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:17235000-17247400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr5:17236200-17251600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr5:17236200-17251800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr5:17236800-17248800	Weak transcription	Aorta	Aorta
16	chr5:17239800-17247800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:17239800-17249000	Weak transcription	HSMMtube	muscle
18	chr5:17240000-17247400	Weak transcription	HUVEC	blood vessel
19	chr5:17240000-17247600	Weak transcription	HMEC	breast
20	chr5:17240000-17247800	Weak transcription	NHEK	skin
21	chr5:17240000-17248000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:17241600-17248600	Genic enhancers	Hela-S3	cervix
23	chr5:17242000-17247200	Weak transcription	NHLF	lung
24	chr5:17242000-17247400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:17242000-17257600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:17242200-17247200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:17242200-17248800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:17242200-17253800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr5:17242200-17255600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr5:17242400-17254400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr5:17242400-17255600	Weak transcription	Fetal Lung	lung
32	chr5:17242600-17248800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:17242600-17253600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr5:17242800-17258000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr5:17242800-17275000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr5:17243200-17247600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr5:17243400-17248200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:17244000-17247400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr5:17244000-17247400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:17244200-17247600	Weak transcription	Brain Germinal Matrix	brain
41	chr5:17244400-17248200	Weak transcription	NH-A	brain
42	chr5:17244600-17247600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr5:17244600-17253800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:17244800-17247400	Weak transcription	Osteobl	bone
45	chr5:17244800-17248600	Weak transcription	HSMM	muscle
46	chr5:17244800-17274600	Weak transcription	Ovary	ovary
47	chr5:17245800-17248000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
48	chr5:17246600-17247600	Strong transcription	Primary B cells from cord blood	blood
49	chr5:17246600-17247600	Weak transcription	Fetal Brain Male	brain
50	chr5:17246600-17248200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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