Variant report

Variant	rs17049085
Chromosome Location	chr2:57948003-57948004
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:57947786..57948883-chr2:58675068..58675903,3	MCF-7	breast:
2	chr2:57947756..57948609-chr2:57986675..57987249,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10496077	1.00[ASN][1000 genomes]
rs17049105	0.81[ASN][1000 genomes]
rs17049113	0.81[ASN][1000 genomes]
rs17049167	1.00[CHB][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	nsv1007118	chr2:57562051-58147588	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv874193	chr2:57758608-58066673	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1006688	chr2:57822953-58030203	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv874196	chr2:57946148-58220320	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57938400-57952400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:57939800-57948200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:57941800-57948200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:57943400-57948200	Weak transcription	Brain Germinal Matrix	brain
5	chr2:57945400-57948200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:57947200-57948200	Enhancers	Fetal Thymus	thymus
7	chr2:57947600-57948800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:57947800-57948200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:57947800-57948200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:57947800-57948200	Enhancers	A549	lung
11	chr2:57947800-57948200	Enhancers	HUVEC	blood vessel
12	chr2:57947800-57948200	Active TSS	Osteobl	bone
13	chr2:57947800-57948400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:57947800-57948400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:57947800-57948400	Flanking Active TSS	Hela-S3	cervix
16	chr2:57947800-57948600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:57947800-57948600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:57947800-57948600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:57947800-57948600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:57947800-57948600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:57947800-57948800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:57948000-57948200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:57948000-57948200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:57948000-57948200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:57948000-57948200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:57948000-57948200	Active TSS	Adipose Nuclei	Adipose
27	chr2:57948000-57948200	Enhancers	Brain Angular Gyrus	brain
28	chr2:57948000-57948200	Enhancers	Brain Substantia Nigra	brain
29	chr2:57948000-57948200	Active TSS	NHDF-Ad	bronchial
30	chr2:57948000-57948400	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr2:57948000-57948400	Enhancers	Primary B cells from peripheral blood	blood
32	chr2:57948000-57948400	Active TSS	Primary T cells from cord blood	blood
33	chr2:57948000-57948400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:57948000-57948400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr2:57948000-57948400	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr2:57948000-57948400	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr2:57948000-57948400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:57948000-57948400	Active TSS	Aorta	Aorta
39	chr2:57948000-57948400	Active TSS	Brain Hippocampus Middle	brain
40	chr2:57948000-57948400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:57948000-57948400	Enhancers	Duodenum Mucosa	Duodenum
42	chr2:57948000-57948400	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr2:57948000-57948400	Active TSS	Right Atrium	heart
44	chr2:57948000-57948400	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr2:57948000-57948400	Flanking Active TSS	HSMM	muscle
46	chr2:57948000-57948400	Active TSS	Monocytes-CD14+_RO01746	blood
47	chr2:57948000-57948600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:57948000-57948600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr2:57948000-57948600	Enhancers	HMEC	breast
50	chr2:57948000-57948600	Flanking Active TSS	NH-A	brain

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