Variant report

Variant	rs6723052
Chromosome Location	chr2:39614100-39614101
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39613589..39616397-chr2:39663811..39666348,2	K562	blood:
2	chr2:39613441..39616248-chr2:39657678..39659490,2	MCF-7	breast:
3	chr2:39613765..39616642-chr2:39620557..39622902,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231312	Chromatin interaction
ENSG00000252239	Chromatin interaction
ENSG00000011566	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11680220	0.86[ASN][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	nsv581494	chr2:39277851-39626388	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39588000-39630400	Weak transcription	Placenta	Placenta
2	chr2:39591800-39621400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:39592800-39617600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:39600600-39614600	Weak transcription	Aorta	Aorta
5	chr2:39603200-39638400	Weak transcription	Hela-S3	cervix
6	chr2:39603400-39625000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:39603400-39626800	Weak transcription	Primary T cells from cord blood	blood
8	chr2:39607000-39626800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:39607200-39614600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:39607400-39624800	Weak transcription	Stomach Mucosa	stomach
11	chr2:39607600-39619800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:39607600-39643400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr2:39608000-39622800	Weak transcription	Fetal Kidney	kidney
14	chr2:39608400-39614600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:39608400-39621000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:39608400-39626200	Weak transcription	Brain Substantia Nigra	brain
17	chr2:39609000-39617400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:39609200-39614600	Weak transcription	Liver	Liver
19	chr2:39609200-39615200	Weak transcription	Gastric	stomach
20	chr2:39609200-39617200	Weak transcription	NHDF-Ad	bronchial
21	chr2:39609200-39621600	Weak transcription	Lung	lung
22	chr2:39609400-39615000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr2:39609400-39621200	Weak transcription	Brain Angular Gyrus	brain
24	chr2:39609400-39621200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:39609400-39621600	Weak transcription	HSMM	muscle
26	chr2:39609600-39614400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:39609600-39614600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:39609600-39617400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr2:39609600-39621200	Weak transcription	Brain Hippocampus Middle	brain
30	chr2:39609600-39621400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:39609600-39621600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:39609600-39621600	Weak transcription	NH-A	brain
33	chr2:39609600-39621600	Weak transcription	Osteobl	bone
34	chr2:39609600-39626400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:39610000-39621200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:39610200-39614600	Weak transcription	Fetal Lung	lung
37	chr2:39610200-39615600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:39610200-39621800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:39610200-39626400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr2:39610400-39614600	Weak transcription	Fetal Heart	heart
41	chr2:39610400-39615200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr2:39610400-39617400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:39610600-39614600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:39610800-39614600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:39610800-39615800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:39612000-39616000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:39612200-39614800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:39612800-39614200	Enhancers	Psoas Muscle	Psoas
49	chr2:39613000-39621400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:39613200-39618200	Enhancers	Colon Smooth Muscle	Colon

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