Variant report

Variant	rs6718503
Chromosome Location	chr2:113280909-113280910
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113277911..113280966-chr2:113298764..113301565,3	MCF-7	breast:
2	chr2:113280551..113282537-chr2:113295575..113297853,2	K562	blood:
3	chr2:113237676..113239991-chr2:113279736..113282634,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125630	Chromatin interaction
ENSG00000114999	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2043737	0.88[AFR][1000 genomes]
rs7506	0.88[AFR][1000 genomes]
rs7564182	0.88[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949573	chr2:112986955-113320975	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113241200-113286400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:113241600-113292400	Weak transcription	Small Intestine	intestine
3	chr2:113241800-113286000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:113241800-113286200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:113260800-113286200	Weak transcription	Fetal Brain Male	brain
6	chr2:113260800-113298800	Weak transcription	Fetal Heart	heart
7	chr2:113267400-113290000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:113268000-113286400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:113270600-113298800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr2:113271000-113286200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:113271400-113281400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:113271600-113281600	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:113272600-113287400	Weak transcription	Fetal Kidney	kidney
14	chr2:113273200-113281400	Strong transcription	Fetal Stomach	stomach
15	chr2:113273400-113281600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:113274200-113281000	Strong transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:113274200-113281200	Strong transcription	Primary T cells from cord blood	blood
18	chr2:113274200-113281200	Strong transcription	Left Ventricle	heart
19	chr2:113275400-113281200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:113275600-113281400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:113275600-113281400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:113275600-113281400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr2:113276000-113281000	Strong transcription	Adipose Nuclei	Adipose
24	chr2:113276200-113281200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:113276200-113281400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:113276200-113281400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:113276200-113281400	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr2:113276200-113281400	Strong transcription	Dnd41	blood
29	chr2:113276400-113281400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:113276400-113281400	Strong transcription	Fetal Muscle Trunk	muscle
31	chr2:113276400-113281400	Strong transcription	Fetal Thymus	thymus
32	chr2:113276400-113281400	Strong transcription	Stomach Smooth Muscle	stomach
33	chr2:113276400-113281600	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr2:113276400-113281600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:113276400-113281600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:113276600-113281000	Strong transcription	Brain Hippocampus Middle	brain
37	chr2:113276600-113281400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:113276600-113281400	Strong transcription	Fetal Brain Female	brain
39	chr2:113276600-113281400	Strong transcription	HepG2	liver
40	chr2:113276600-113281600	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr2:113276800-113281200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr2:113276800-113281200	Strong transcription	HSMM	muscle
43	chr2:113276800-113281200	Strong transcription	Osteobl	bone
44	chr2:113276800-113281400	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr2:113276800-113281600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:113277000-113281200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:113277000-113281200	Strong transcription	NH-A	brain
48	chr2:113277000-113281400	Strong transcription	Lung	lung
49	chr2:113277200-113281000	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr2:113277200-113281000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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