Variant report

Variant	rs13397994
Chromosome Location	chr2:205708355-205708356
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	chr2:205707571..205709179-chr2:205709317..205711354,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10167760	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10198208	1.00[EUR][1000 genomes]
rs10198512	1.00[EUR][1000 genomes]
rs10198813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13409991	0.90[EUR][1000 genomes]
rs13417068	0.90[EUR][1000 genomes]
rs13423367	0.95[EUR][1000 genomes]
rs13426810	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13426874	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16836701	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16836720	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17457577	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs17535452	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28676310	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2878560	0.90[EUR][1000 genomes]
rs62177846	0.81[AFR][1000 genomes]
rs62179369	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2757846	chr2:205539832-205841174	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2759111	chr2:205539832-205841174	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv875724	chr2:205572718-205727222	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv875725	chr2:205572718-205760800	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv875727	chr2:205626483-205715245	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv3120	chr2:205695611-205713292	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3459948	chr2:205705963-205712223	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3459947	chr2:205706103-205712058	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3459949	chr2:205706103-205712058	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv12848	chr2:205706215-205711954	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205693400-205714600	Weak transcription	Fetal Kidney	kidney
2	chr2:205705200-205708400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr2:205706800-205708600	Enhancers	Adipose Nuclei	Adipose
4	chr2:205706800-205708600	Enhancers	Fetal Lung	lung
5	chr2:205707000-205708400	Enhancers	Colon Smooth Muscle	Colon
6	chr2:205707000-205708600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:205707000-205708800	Enhancers	NHLF	lung
8	chr2:205707400-205708400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:205707400-205708400	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr2:205707400-205708400	Enhancers	Fetal Muscle Leg	muscle
11	chr2:205707400-205708400	Enhancers	Fetal Stomach	stomach
12	chr2:205707400-205708400	Enhancers	Ovary	ovary
13	chr2:205707400-205708400	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr2:205707400-205708400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr2:205707400-205708400	Flanking Active TSS	NHEK	skin
16	chr2:205707400-205709000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr2:205707600-205708400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr2:205707600-205708400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:205707600-205708400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:205707600-205708400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr2:205707600-205708400	Enhancers	Psoas Muscle	Psoas
22	chr2:205707800-205708400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:205707800-205708600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:205708000-205708400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:205708000-205708400	Enhancers	Fetal Muscle Trunk	muscle
26	chr2:205708000-205708400	Enhancers	Osteobl	bone
27	chr2:205708000-205708600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:205708000-205708600	Enhancers	NH-A	brain
29	chr2:205708000-205708800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:205708000-205708800	Enhancers	HSMM	muscle
31	chr2:205708000-205709000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:205708000-205709000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:205708200-205708400	Enhancers	Gastric	stomach
34	chr2:205708200-205708400	Enhancers	HSMMtube	muscle
35	chr2:205708200-205708600	Enhancers	NHDF-Ad	bronchial
36	chr2:205708200-205708800	Enhancers	A549	lung
37	chr2:205708200-205709400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:205708200-205709400	Enhancers	HUVEC	blood vessel
39	chr2:205708200-205715400	Weak transcription	Rectal Smooth Muscle	rectum

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