Variant report

Variant	rs13027231
Chromosome Location	chr2:47419974-47419975
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47196076..47198728-chr2:47417712..47420454,3	MCF-7	breast:
2	chr2:47412361..47428396-chr2:47486545..47501626,43	MCF-7	breast:
3	chr2:47244477..47246233-chr2:47418737..47420783,2	MCF-7	breast:
4	chr2:47419286..47421209-chr2:47454882..47457693,2	MCF-7	breast:
5	chr2:47416956..47422470-chr2:47490735..47503252,22	MCF-7	breast:
6	chr2:47418320..47420689-chr2:47477088..47480602,4	MCF-7	breast:
7	chr2:11678035..11680937-chr2:47418669..47420315,2	MCF-7	breast:
8	chr2:47193634..47195706-chr2:47417970..47421057,3	MCF-7	breast:
9	chr2:47417605..47420292-chr2:47545533..47548225,3	MCF-7	breast:
10	chr2:47418285..47420193-chr2:47420738..47423255,2	K562	blood:
11	chr2:47257326..47259699-chr2:47417975..47420606,2	MCF-7	breast:
12	chr2:47418771..47421369-chr2:47540546..47543662,5	MCF-7	breast:
13	chr2:47419054..47421254-chr2:47460035..47461567,2	MCF-7	breast:
14	chr2:47419209..47420716-chr2:47482219..47483984,2	MCF-7	breast:
15	chr2:47302688..47305561-chr2:47417562..47420065,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196208	Chromatin interaction
ENSG00000264010	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12994558	0.90[EUR][1000 genomes]
rs13027053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35515011	0.92[EUR][1000 genomes]
rs35701723	1.00[EUR][1000 genomes]
rs62141699	0.92[EUR][1000 genomes]
rs67407116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71423954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7566126	1.00[CEU][hapmap];0.92[EUR][1000 genomes]

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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv457374	chr2:47313624-47448865	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
4	nsv581754	chr2:47313624-47448865	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47416200-47421200	Enhancers	HUVEC	blood vessel
2	chr2:47416200-47421800	Enhancers	Fetal Stomach	stomach
3	chr2:47416200-47423800	Enhancers	HMEC	breast
4	chr2:47416400-47421200	Flanking Active TSS	A549	lung
5	chr2:47416400-47421400	Enhancers	Rectal Smooth Muscle	rectum
6	chr2:47416400-47421400	Enhancers	HSMMtube	muscle
7	chr2:47416400-47423400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:47416400-47423400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:47416800-47421600	Enhancers	Colon Smooth Muscle	Colon
10	chr2:47416800-47424000	Enhancers	Fetal Intestine Small	intestine
11	chr2:47417200-47421400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:47417400-47421400	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr2:47417400-47422600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:47417400-47423000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:47417600-47422400	Enhancers	Brain Angular Gyrus	brain
16	chr2:47417600-47422800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:47417800-47420000	Enhancers	Brain Cingulate Gyrus	brain
18	chr2:47417800-47421400	Enhancers	NHDF-Ad	bronchial
19	chr2:47418000-47421400	Enhancers	Fetal Kidney	kidney
20	chr2:47418200-47421800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:47418200-47423600	Enhancers	Fetal Brain Male	brain
22	chr2:47418400-47420800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:47418400-47421200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr2:47418400-47421400	Enhancers	NHEK	skin
25	chr2:47418400-47421600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr2:47418600-47420000	Enhancers	Lung	lung
27	chr2:47418600-47420200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:47418600-47420400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr2:47418600-47420400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:47418600-47420600	Enhancers	Ovary	ovary
31	chr2:47418600-47420600	Flanking Active TSS	Hela-S3	cervix
32	chr2:47418600-47420600	Flanking Bivalent TSS/Enh	HepG2	liver
33	chr2:47418600-47421000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:47418600-47421400	Enhancers	H1 Cell Line	embryonic stem cell
35	chr2:47418600-47421400	Enhancers	H9 Cell Line	embryonic stem cell
36	chr2:47418600-47421800	Enhancers	Adipose Nuclei	Adipose
37	chr2:47418600-47422000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:47418600-47422000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:47418600-47422200	Enhancers	Right Atrium	heart
40	chr2:47418600-47422400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:47418600-47422400	Enhancers	Placenta	Placenta
42	chr2:47418600-47422400	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr2:47418600-47422400	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr2:47418600-47422800	Enhancers	Fetal Intestine Large	intestine
45	chr2:47418600-47423400	Enhancers	Fetal Muscle Leg	muscle
46	chr2:47418800-47420000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr2:47418800-47420200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr2:47418800-47420600	Enhancers	Stomach Mucosa	stomach
49	chr2:47418800-47420800	Enhancers	Fetal Heart	heart
50	chr2:47418800-47421400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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