Variant report

Variant	rs193197116
Chromosome Location	chr2:55323856-55323857
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: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	chr2:55322057..55324846-chr2:55364507..55366032,2	K562	blood:
4	chr2:55323307..55326609-chr2:55326695..55329491,3	K562	blood:
5	chr2:55274277..55278619-chr2:55322679..55324935,4	K562	blood:
6	chr2:55323589..55325752-chr2:55333096..55335881,2	MCF-7	breast:
7	chr2:55322759..55325369-chr2:55329915..55332847,3	MCF-7	breast:
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: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:71 , 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	chr2:55319800-55324600	Weak transcription	Fetal Intestine Small	intestine
4	chr2:55320000-55327200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:55321000-55324000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:55321000-55324600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:55321000-55326600	Weak transcription	HMEC	breast
8	chr2:55321400-55326400	Weak transcription	Primary B cells from cord blood	blood
9	chr2:55321600-55325000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:55321600-55327400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:55321600-55339400	Weak transcription	Thymus	Thymus
12	chr2:55321800-55324000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:55321800-55324600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:55321800-55324600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:55321800-55336400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:55322000-55324000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:55322000-55324200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr2:55322000-55324600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:55322000-55324800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:55322000-55326600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:55322000-55326600	Weak transcription	NHEK	skin
22	chr2:55322200-55325200	Enhancers	Ovary	ovary
23	chr2:55322600-55327200	Enhancers	HUVEC	blood vessel
24	chr2:55322600-55327800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr2:55322800-55327200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:55322800-55327200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:55322800-55327200	Enhancers	Adipose Nuclei	Adipose
28	chr2:55323000-55325200	Enhancers	Pancreas	Pancrea
29	chr2:55323400-55324600	Enhancers	Right Ventricle	heart
30	chr2:55323600-55325200	Enhancers	Fetal Brain Male	brain
31	chr2:55323600-55325200	Enhancers	Fetal Heart	heart
32	chr2:55323600-55325200	Enhancers	Rectal Smooth Muscle	rectum
33	chr2:55323600-55325400	Enhancers	Colon Smooth Muscle	Colon
34	chr2:55323600-55325400	Enhancers	Right Atrium	heart
35	chr2:55323600-55325400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr2:55323600-55325400	Enhancers	Hela-S3	cervix
37	chr2:55323600-55326600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr2:55323600-55326600	Enhancers	HSMMtube	muscle
39	chr2:55323600-55326600	Enhancers	NHLF	lung
40	chr2:55323600-55326800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:55323600-55327200	Enhancers	Osteobl	bone
42	chr2:55323600-55328200	Enhancers	K562	blood
43	chr2:55323600-55330000	Enhancers	HSMM	muscle
44	chr2:55323800-55324000	Enhancers	Lung	lung
45	chr2:55323800-55324000	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr2:55323800-55324400	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr2:55323800-55324600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:55323800-55324800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:55323800-55324800	Enhancers	Brain Angular Gyrus	brain
50	chr2:55323800-55324800	Enhancers	Fetal Brain Female	brain

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