Variant report

Variant	rs9904048
Chromosome Location	chr17:59431266-59431267
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:59429709..59432657-chr9:4983973..4985982,2	MCF-7	breast:
2	chr17:59415713..59496229-chr20:49401322..49431802,760	MCF-7	breast:
3	chr17:59428622..59431598-chr20:45947216..45948966,2	MCF-7	breast:
4	chr17:59428697..59431384-chr7:39988095..39989926,2	MCF-7	breast:
5	chr17:59406940..59447393-chr20:49402944..49426846,176	MCF-7	breast:
6	chr17:59427533..59432475-chr20:49376876..49382217,8	MCF-7	breast:
7	chr12:120728750..120730743-chr17:59428651..59431626,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124243	Chromatin interaction
ENSG00000096968	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000267882	Chromatin interaction
ENSG00000259826	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000065883	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3785844	1.00[CEU][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	nsv1065939	chr17:59283350-59517730	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	331 gene(s)	inside rSNPs	diseases
2	nsv833505	chr17:59323466-59518007	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	326 gene(s)	inside rSNPs	diseases
3	nsv833506	chr17:59362377-59562984	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	334 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59388800-59444200	Weak transcription	Primary T cells from cord blood	blood
2	chr17:59416200-59444800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr17:59416600-59433600	Weak transcription	Hela-S3	cervix
4	chr17:59416800-59439200	Weak transcription	Psoas Muscle	Psoas
5	chr17:59423200-59433600	Weak transcription	Pancreas	Pancrea
6	chr17:59424400-59437800	Weak transcription	Adipose Nuclei	Adipose
7	chr17:59427600-59444000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr17:59427800-59450000	Weak transcription	Ovary	ovary
9	chr17:59428200-59432000	Enhancers	Fetal Muscle Trunk	muscle
10	chr17:59428200-59432400	Enhancers	Fetal Muscle Leg	muscle
11	chr17:59428400-59434000	Enhancers	HepG2	liver
12	chr17:59428600-59431600	Enhancers	Fetal Lung	lung
13	chr17:59428800-59434400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr17:59429000-59431400	Enhancers	HSMM	muscle
15	chr17:59429000-59432000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr17:59429400-59433600	Weak transcription	Aorta	Aorta
17	chr17:59429400-59446000	Weak transcription	Fetal Intestine Small	intestine
18	chr17:59429600-59431400	Enhancers	Fetal Kidney	kidney
19	chr17:59429800-59431600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr17:59429800-59433200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr17:59429800-59433800	Weak transcription	Gastric	stomach
22	chr17:59430000-59431600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr17:59430200-59431600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr17:59430200-59431600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr17:59430200-59432600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr17:59430400-59432000	Enhancers	Esophagus	oesophagus
27	chr17:59430400-59433600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr17:59430600-59431600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr17:59430600-59431600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr17:59430600-59432800	Weak transcription	A549	lung
31	chr17:59430600-59433600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr17:59430600-59433600	Weak transcription	NHLF	lung
33	chr17:59430600-59433800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr17:59430800-59431600	Enhancers	Spleen	Spleen
35	chr17:59430800-59431600	Enhancers	NHEK	skin
36	chr17:59430800-59431800	Weak transcription	Placenta	Placenta
37	chr17:59430800-59432000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr17:59430800-59432000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr17:59430800-59433600	Weak transcription	NHDF-Ad	bronchial
40	chr17:59430800-59435200	Weak transcription	Right Ventricle	heart
41	chr17:59431000-59432000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr17:59431000-59432000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr17:59431000-59432000	Weak transcription	Fetal Stomach	stomach
44	chr17:59431000-59432200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr17:59431000-59432400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr17:59431000-59433600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr17:59431000-59434000	Weak transcription	HSMMtube	muscle
48	chr17:59431000-59436200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr17:59431000-59436200	Weak transcription	Fetal Heart	heart
50	chr17:59431000-59436600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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