Variant report

Variant	rs11124684
Chromosome Location	chr2:39730619-39730620
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39730392..39733238-chr2:39734296..39737096,2	MCF-7	breast:
2	chr2:39730571..39735062-chr2:39737515..39740200,4	K562	blood:
3	chr2:39720512..39723979-chr2:39726252..39731559,5	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11124685	0.80[EUR][1000 genomes]
rs11677700	0.84[ASN][1000 genomes]
rs11891871	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7585512	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39712400-39748600	Weak transcription	Aorta	Aorta
2	chr2:39722400-39731200	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:39722600-39731200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:39722800-39731200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:39723400-39738400	Weak transcription	Lung	lung
6	chr2:39723800-39731400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:39724800-39750600	Weak transcription	Gastric	stomach
8	chr2:39726200-39731400	Weak transcription	Colonic Mucosa	Colon
9	chr2:39726400-39731400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:39726600-39731200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:39726600-39731600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:39726600-39731600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr2:39726800-39731200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:39726800-39731400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:39726800-39731400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:39727000-39731200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:39727000-39732800	Weak transcription	Psoas Muscle	Psoas
18	chr2:39728000-39731200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:39728000-39731200	Weak transcription	Right Atrium	heart
20	chr2:39728000-39731200	Weak transcription	Small Intestine	intestine
21	chr2:39728000-39731400	Weak transcription	Left Ventricle	heart
22	chr2:39728000-39731400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr2:39728200-39731200	Weak transcription	Adipose Nuclei	Adipose
24	chr2:39728200-39731200	Weak transcription	Fetal Lung	lung
25	chr2:39728200-39731200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:39728200-39731200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:39728200-39731200	Weak transcription	NH-A	brain
28	chr2:39728200-39731400	Weak transcription	Fetal Kidney	kidney
29	chr2:39728200-39731400	Weak transcription	Right Ventricle	heart
30	chr2:39728200-39731400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr2:39728400-39731200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:39728400-39731400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:39728400-39731400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr2:39728400-39731400	Weak transcription	Osteobl	bone
35	chr2:39728400-39736800	Weak transcription	K562	blood
36	chr2:39728600-39731200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr2:39728600-39731200	Weak transcription	Ovary	ovary
38	chr2:39728600-39731400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:39728600-39731400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:39728600-39731400	Weak transcription	Fetal Intestine Large	intestine
41	chr2:39728600-39731600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:39728800-39731200	Weak transcription	Fetal Heart	heart
43	chr2:39728800-39731400	Weak transcription	Fetal Intestine Small	intestine
44	chr2:39729200-39730800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:39729600-39731400	Enhancers	Primary B cells from peripheral blood	blood
46	chr2:39729600-39732200	Enhancers	NHLF	lung
47	chr2:39729600-39737000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:39729800-39731200	Enhancers	HepG2	liver
49	chr2:39729800-39731400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:39729800-39731400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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