Variant report

Variant	rs13415635
Chromosome Location	chr2:72705535-72705536
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	chr2:72701558..72703531-chr2:72704901..72708933,3	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10084347	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10165868	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10176180	0.81[AFR][1000 genomes]
rs10181491	0.80[AFR][1000 genomes]
rs10186512	0.85[YRI][hapmap]
rs10188321	0.92[AFR][1000 genomes]
rs10188854	0.81[AFR][1000 genomes]
rs10191381	0.93[YRI][hapmap];0.85[AFR][1000 genomes]
rs10205704	0.93[YRI][hapmap]
rs10206245	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11126366	0.86[YRI][hapmap]
rs13393356	0.93[YRI][hapmap];0.92[AFR][1000 genomes]
rs13393677	0.84[AFR][1000 genomes]
rs13397728	0.92[YRI][hapmap];0.90[AFR][1000 genomes]
rs13411428	0.85[YRI][hapmap]
rs13414789	1.00[AMR][1000 genomes]
rs13426691	1.00[YRI][hapmap]
rs28860196	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs590345	0.81[YRI][hapmap]
rs6715775	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6729155	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6749568	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7564660	0.92[YRI][hapmap]
rs9653555	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv999179	chr2:72561463-72761103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1008335	chr2:72561463-72819704	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv874264	chr2:72593243-72901170	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv582208	chr2:72690622-72835886	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv834257	chr2:72701083-72853548	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72691400-72712600	Weak transcription	Osteobl	bone
2	chr2:72691400-72724200	Weak transcription	Psoas Muscle	Psoas
3	chr2:72691400-72726400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:72691600-72707600	Weak transcription	Brain Angular Gyrus	brain
5	chr2:72691600-72724200	Weak transcription	HUVEC	blood vessel
6	chr2:72691600-72741800	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:72692400-72742000	Weak transcription	Small Intestine	intestine
8	chr2:72692600-72727600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:72699600-72744600	Weak transcription	Liver	Liver
10	chr2:72700200-72742600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:72701600-72709200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:72702600-72705600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:72702600-72707000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:72702600-72707400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:72702600-72727000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:72702600-72727600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:72702600-72743600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:72702800-72707600	Weak transcription	Primary T cells from cord blood	blood
19	chr2:72702800-72712800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:72702800-72724800	Weak transcription	Brain Substantia Nigra	brain
21	chr2:72702800-72728200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:72703000-72707600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:72703000-72707600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:72703000-72707600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr2:72703000-72708800	Weak transcription	Gastric	stomach
26	chr2:72703000-72713600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:72703000-72736400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:72703200-72705600	Weak transcription	Brain Hippocampus Middle	brain
29	chr2:72703200-72705600	Weak transcription	HepG2	liver
30	chr2:72703200-72707400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:72703200-72707400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr2:72703200-72707400	Weak transcription	Placenta	Placenta
33	chr2:72703200-72707600	Weak transcription	Aorta	Aorta
34	chr2:72703200-72707600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr2:72703200-72707600	Weak transcription	Ovary	ovary
36	chr2:72703200-72707600	Weak transcription	HSMMtube	muscle
37	chr2:72703200-72708000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr2:72703200-72712000	Weak transcription	Adipose Nuclei	Adipose
39	chr2:72703200-72720200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:72703200-72727600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr2:72703200-72727800	Weak transcription	NHEK	skin
42	chr2:72703200-72728000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr2:72703200-72728600	Weak transcription	Right Ventricle	heart
44	chr2:72703200-72731000	Weak transcription	Left Ventricle	heart
45	chr2:72703200-72732600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:72703200-72732600	Weak transcription	Lung	lung
47	chr2:72703200-72735800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:72703200-72742800	Weak transcription	HSMM	muscle
49	chr2:72703200-72743000	Weak transcription	Pancreas	Pancrea
50	chr2:72703200-72743400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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