Variant report

Variant	rs529801471
Chromosome Location	chr2:86849738-86849739
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:86667340..86669262-chr2:86848703..86850957,2	MCF-7	breast:
2	chr2:86789208..86791396-chr2:86847374..86850220,3	K562	blood:
3	chr2:86788265..86792368-chr2:86847223..86851122,9	MCF-7	breast:
4	chr2:86416284..86418486-chr2:86847509..86849748,2	K562	blood:
5	chr2:86667874..86671580-chr2:86848738..86852940,5	K562	blood:
6	chr2:86789208..86791396-chr2:86848677..86850220,2	K562	blood:
7	chr2:86849205..86851980-chr4:103788532..103791480,2	MCF-7	breast:
8	chr17:8075574..8078045-chr2:86848559..86850973,2	MCF-7	breast:
9	chr2:86848500..86851973-chr2:86945425..86949651,4	MCF-7	breast:
10	chr2:86839004..86842325-chr2:86847581..86852030,6	MCF-7	breast:
11	chr2:86669498..86671776-chr2:86849448..86851643,2	MCF-7	breast:
12	chr2:86787885..86791617-chr2:86846945..86852237,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115561	Chromatin interaction
ENSG00000115548	Chromatin interaction
ENSG00000145354	Chromatin interaction
ENSG00000200463	Chromatin interaction
ENSG00000239305	Chromatin interaction
ENSG00000249884	Chromatin interaction
ENSG00000228363	Chromatin interaction
ENSG00000109332	Chromatin interaction
ENSG00000153561	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1011590	chr2:86824181-86906114	Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv3498261	chr2:86849516-86851839	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
5	esv3498262	chr2:86849516-86851839	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
6	esv3404473	chr2:86849666-86852214	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86847200-86851200	Active TSS	Duodenum Mucosa	Duodenum
2	chr2:86847200-86851400	Active TSS	Right Atrium	heart
3	chr2:86847400-86850000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:86847400-86851600	Active TSS	Right Ventricle	heart
5	chr2:86847600-86851200	Active TSS	GM12878-XiMat	blood
6	chr2:86847600-86851400	Active TSS	Stomach Smooth Muscle	stomach
7	chr2:86847800-86849800	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr2:86847800-86850000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:86847800-86851200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:86847800-86851400	Active TSS	Brain Angular Gyrus	brain
11	chr2:86848000-86851200	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr2:86848000-86851200	Active TSS	Fetal Intestine Small	intestine
13	chr2:86848000-86851200	Active TSS	HMEC	breast
14	chr2:86848000-86851400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:86848000-86851400	Active TSS	Brain Anterior Caudate	brain
16	chr2:86848000-86851400	Active TSS	Brain Cingulate Gyrus	brain
17	chr2:86848000-86851400	Active TSS	Colon Smooth Muscle	Colon
18	chr2:86848000-86851400	Active TSS	Fetal Brain Female	brain
19	chr2:86848000-86851400	Active TSS	HSMMtube	muscle
20	chr2:86848000-86851600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:86848000-86851600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:86848200-86849800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:86848200-86849800	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr2:86848200-86850000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:86848200-86850000	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr2:86848200-86850000	Active TSS	Brain Germinal Matrix	brain
27	chr2:86848200-86851200	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr2:86848200-86851200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:86848200-86851200	Active TSS	Fetal Intestine Large	intestine
30	chr2:86848200-86851200	Active TSS	Fetal Muscle Leg	muscle
31	chr2:86848200-86851200	Active TSS	Fetal Stomach	stomach
32	chr2:86848200-86851200	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr2:86848200-86851200	Active TSS	Stomach Mucosa	stomach
34	chr2:86848200-86851400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:86848200-86851400	Active TSS	Colonic Mucosa	Colon
36	chr2:86848200-86851400	Active TSS	Left Ventricle	heart
37	chr2:86848200-86851400	Active TSS	Ovary	ovary
38	chr2:86848200-86851400	Active TSS	Psoas Muscle	Psoas
39	chr2:86848200-86851400	Active TSS	HSMM	muscle
40	chr2:86848200-86851600	Active TSS	Aorta	Aorta
41	chr2:86848200-86851600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:86848200-86851600	Active TSS	NH-A	brain
43	chr2:86848400-86850400	Active TSS	Fetal Brain Male	brain
44	chr2:86848400-86851000	Active TSS	Primary T cells fromperipheralblood	blood
45	chr2:86848400-86851000	Active TSS	Brain Hippocampus Middle	brain
46	chr2:86848400-86851000	Active TSS	HUVEC	blood vessel
47	chr2:86848400-86851200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:86848400-86851200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr2:86848400-86851200	Active TSS	Fetal Kidney	kidney
50	chr2:86848400-86851200	Active TSS	Rectal Mucosa Donor 31	rectum

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