Variant report

Variant	rs3934624
Chromosome Location	chr2:55391142-55391143
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55279956..55282350-chr2:55389384..55392221,3	K562	blood:
2	chr2:55131884..55132585-chr2:55390651..55391252,2	MCF-7	breast:
3	chr2:55275064..55280479-chr2:55390367..55395295,9	MCF-7	breast:
4	chr2:55278226..55280278-chr2:55389625..55391199,2	MCF-7	breast:
5	chr2:55334946..55336599-chr2:55390126..55391859,2	MCF-7	breast:
6	chr2:55389326..55391363-chr2:55393207..55395340,2	K562	blood:
7	chr2:55273759..55277470-chr2:55389795..55392112,3	K562	blood:
8	chr2:55274543..55277923-chr2:55387934..55394752,12	MCF-7	breast:
9	chr2:55359631..55362469-chr2:55389581..55391287,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction
ENSG00000266376	Chromatin interaction

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

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

rs_ID	r²[population]
rs1133183	0.85[YRI][hapmap]
rs4072424	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs72914589	0.85[AFR][1000 genomes]
rs72914598	0.85[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	nsv1010438	chr2:55373562-55450144	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55383600-55395600	Enhancers	Pancreas	Pancrea
2	chr2:55384000-55392800	Weak transcription	HMEC	breast
3	chr2:55384800-55392200	Weak transcription	Right Ventricle	heart
4	chr2:55386000-55395000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:55386800-55416600	Weak transcription	Esophagus	oesophagus
6	chr2:55387400-55393800	Weak transcription	Fetal Heart	heart
7	chr2:55387400-55395600	Enhancers	Lung	lung
8	chr2:55387600-55395000	Weak transcription	Psoas Muscle	Psoas
9	chr2:55387800-55392400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr2:55388000-55391200	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr2:55388000-55395200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:55388400-55392000	Enhancers	Fetal Brain Male	brain
13	chr2:55388400-55392200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:55388600-55391200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr2:55388600-55392000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:55388600-55392400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:55388600-55393200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:55388600-55393400	Enhancers	NH-A	brain
19	chr2:55388800-55391600	Enhancers	Fetal Brain Female	brain
20	chr2:55388800-55391600	Enhancers	Gastric	stomach
21	chr2:55388800-55392200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr2:55388800-55392400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:55388800-55395000	Weak transcription	Left Ventricle	heart
24	chr2:55389000-55394800	Enhancers	Brain Cingulate Gyrus	brain
25	chr2:55389000-55394800	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr2:55389200-55391200	Enhancers	Adipose Nuclei	Adipose
27	chr2:55389200-55393200	Enhancers	HUVEC	blood vessel
28	chr2:55389200-55394000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:55389200-55394800	Enhancers	Brain Anterior Caudate	brain
30	chr2:55389200-55397400	Enhancers	NHLF	lung
31	chr2:55389400-55391600	Enhancers	HSMM	muscle
32	chr2:55389400-55394800	Enhancers	Brain Hippocampus Middle	brain
33	chr2:55389400-55395200	Weak transcription	NHEK	skin
34	chr2:55389600-55391200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:55389600-55392000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr2:55389600-55392400	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr2:55389800-55391200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr2:55389800-55391600	Enhancers	Placenta	Placenta
39	chr2:55389800-55392000	Enhancers	Fetal Lung	lung
40	chr2:55389800-55394000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:55389800-55394600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:55389800-55395000	Weak transcription	Brain Germinal Matrix	brain
43	chr2:55389800-55396000	Enhancers	Fetal Muscle Leg	muscle
44	chr2:55390000-55391400	Enhancers	Rectal Smooth Muscle	rectum
45	chr2:55390000-55391400	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr2:55390000-55393000	Enhancers	Colon Smooth Muscle	Colon
47	chr2:55390000-55393400	Enhancers	Fetal Kidney	kidney
48	chr2:55390000-55393600	Enhancers	Osteobl	bone
49	chr2:55390000-55393800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:55390000-55395600	Enhancers	Ovary	ovary

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