Variant report

Variant	rs530861884
Chromosome Location	chr2:55324849-55324850
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55276927..55278545-chr2:55322721..55325631,2	K562	blood:
2	chr2:55274277..55275806-chr2:55323435..55326407,2	K562	blood:
3	chr2:55323307..55326609-chr2:55326695..55329491,3	K562	blood:
4	chr2:55274277..55278619-chr2:55322679..55324935,4	K562	blood:
5	chr2:55323589..55325752-chr2:55333096..55335881,2	MCF-7	breast:
6	chr2:55322759..55325369-chr2:55329915..55332847,3	MCF-7	breast:
7	chr2:55287997..55290069-chr2:55324008..55326423,2	K562	blood:
8	chr2:55323175..55325737-chr2:55325839..55328414,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000266376	Chromatin interaction
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006172	chr2:55322883-55340812	Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2760568	chr2:55322895-55330350	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv2763510	chr2:55322895-55330350	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv3345871	chr2:55323717-55336931	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3457756	chr2:55323755-55336917	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3457755	chr2:55323788-55336864	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3457757	chr2:55323788-55336864	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv9883	chr2:55323841-55336774	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv999212	chr2:55324276-55340812	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1004503	chr2:55324276-55343705	Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv997458	chr2:55324276-55344326	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv1013316	chr2:55324276-55345262	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	esv2421886	chr2:55324288-55335045	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55316800-55327200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr2:55318400-55329600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:55320000-55327200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:55321000-55326600	Weak transcription	HMEC	breast
5	chr2:55321400-55326400	Weak transcription	Primary B cells from cord blood	blood
6	chr2:55321600-55325000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:55321600-55327400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:55321600-55339400	Weak transcription	Thymus	Thymus
9	chr2:55321800-55336400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:55322000-55326600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:55322000-55326600	Weak transcription	NHEK	skin
12	chr2:55322200-55325200	Enhancers	Ovary	ovary
13	chr2:55322600-55327200	Enhancers	HUVEC	blood vessel
14	chr2:55322600-55327800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:55322800-55327200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:55322800-55327200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:55322800-55327200	Enhancers	Adipose Nuclei	Adipose
18	chr2:55323000-55325200	Enhancers	Pancreas	Pancrea
19	chr2:55323600-55325200	Enhancers	Fetal Brain Male	brain
20	chr2:55323600-55325200	Enhancers	Fetal Heart	heart
21	chr2:55323600-55325200	Enhancers	Rectal Smooth Muscle	rectum
22	chr2:55323600-55325400	Enhancers	Colon Smooth Muscle	Colon
23	chr2:55323600-55325400	Enhancers	Right Atrium	heart
24	chr2:55323600-55325400	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr2:55323600-55325400	Enhancers	Hela-S3	cervix
26	chr2:55323600-55326600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:55323600-55326600	Enhancers	HSMMtube	muscle
28	chr2:55323600-55326600	Enhancers	NHLF	lung
29	chr2:55323600-55326800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:55323600-55327200	Enhancers	Osteobl	bone
31	chr2:55323600-55328200	Enhancers	K562	blood
32	chr2:55323600-55330000	Enhancers	HSMM	muscle
33	chr2:55323800-55325000	Enhancers	Fetal Stomach	stomach
34	chr2:55323800-55325000	Enhancers	A549	lung
35	chr2:55323800-55325200	Enhancers	Brain Anterior Caudate	brain
36	chr2:55323800-55325200	Enhancers	Brain Cingulate Gyrus	brain
37	chr2:55323800-55325200	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr2:55323800-55325200	Enhancers	Fetal Muscle Leg	muscle
39	chr2:55323800-55325200	Enhancers	Gastric	stomach
40	chr2:55323800-55325200	Enhancers	Left Ventricle	heart
41	chr2:55323800-55325200	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr2:55323800-55325400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:55323800-55325400	Enhancers	Brain Substantia Nigra	brain
44	chr2:55323800-55325400	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr2:55323800-55325400	Enhancers	Psoas Muscle	Psoas
46	chr2:55323800-55325400	Enhancers	Stomach Mucosa	stomach
47	chr2:55323800-55327200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:55323800-55327200	Enhancers	Dnd41	blood
49	chr2:55323800-55327400	Enhancers	NHDF-Ad	bronchial
50	chr2:55323800-55327800	Enhancers	Brain Hippocampus Middle	brain

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