Variant report

Variant	rs551290819
Chromosome Location	chr2:53968006-53968007
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:53967382..53969707-chr2:53992975..53994926,3	K562	blood:

Variant related genes	Relation type
ENSG00000115239	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003263	chr2:53863287-54055359	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv535720	chr2:53863287-54055359	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv834058	chr2:53900674-54072011	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv1844655	chr2:53929855-53972693	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3401006	chr2:53967975-53968262	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53908600-53982200	Weak transcription	Small Intestine	intestine
2	chr2:53910000-53994000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:53910200-53990600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:53918400-53994000	Weak transcription	Fetal Heart	heart
5	chr2:53925400-53979400	Weak transcription	Psoas Muscle	Psoas
6	chr2:53936600-53968400	Weak transcription	Pancreas	Pancrea
7	chr2:53936600-53978600	Weak transcription	Hela-S3	cervix
8	chr2:53936800-53985400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:53937000-53983800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:53937000-53994400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:53937200-53978600	Weak transcription	NH-A	brain
12	chr2:53937200-53983600	Weak transcription	Right Ventricle	heart
13	chr2:53937200-53994200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:53937400-53979600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:53937400-53990200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr2:53937400-53994400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr2:53938000-53974800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr2:53938000-53974800	Weak transcription	Placenta	Placenta
19	chr2:53938200-53975200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:53938400-53969400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:53938400-53969600	Weak transcription	Esophagus	oesophagus
22	chr2:53938400-53975000	Weak transcription	Fetal Kidney	kidney
23	chr2:53938400-53982800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:53938400-53983400	Weak transcription	HSMMtube	muscle
25	chr2:53938400-53992400	Weak transcription	K562	blood
26	chr2:53938600-53972000	Weak transcription	HSMM	muscle
27	chr2:53941800-53974400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:53941800-53976400	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:53943800-53974800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr2:53943800-53983600	Weak transcription	Ovary	ovary
31	chr2:53943800-53983600	Weak transcription	Thymus	Thymus
32	chr2:53943800-53983800	Weak transcription	Left Ventricle	heart
33	chr2:53944000-53974600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr2:53945800-53968400	Weak transcription	Brain Anterior Caudate	brain
35	chr2:53949800-53974200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:53952200-53978600	Weak transcription	Osteobl	bone
37	chr2:53952400-53983600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:53952600-53974800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:53954400-53972000	Weak transcription	NHDF-Ad	bronchial
40	chr2:53954800-53969600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:53954800-53982000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:53954800-53983800	Weak transcription	Lung	lung
43	chr2:53955800-53974600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr2:53956000-53979600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr2:53956000-53983400	Weak transcription	Fetal Brain Male	brain
46	chr2:53956200-53983000	Weak transcription	Fetal Muscle Leg	muscle
47	chr2:53956800-53968400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr2:53956800-53974600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:53957000-53983800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:53957200-53968200	Weak transcription	Brain Hippocampus Middle	brain

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