Variant report

Variant	rs111749051
Chromosome Location	chr2:54220839-54220840
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54195012..54197478-chr2:54219368..54222229,2	K562	blood:
2	chr2:54195890..54198066-chr2:54220619..54223431,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACYP2-7	chr2:54219804-54221311	NONHSAT070716

Variant related genes	Relation type
ENSG00000068878	Chromatin interaction
ENSG00000170634	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001246	chr2:54195654-54434832	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54199000-54221600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:54199000-54228800	Weak transcription	Aorta	Aorta
3	chr2:54204400-54226400	Weak transcription	Pancreas	Pancrea
4	chr2:54205200-54222600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:54206000-54221600	Weak transcription	Thymus	Thymus
6	chr2:54206000-54226400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:54208200-54221400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:54208400-54248200	Weak transcription	Lung	lung
9	chr2:54209000-54221400	Weak transcription	Fetal Thymus	thymus
10	chr2:54209000-54221600	Weak transcription	Dnd41	blood
11	chr2:54211400-54243000	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:54213600-54249800	Weak transcription	Left Ventricle	heart
13	chr2:54215000-54226000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:54215000-54226000	Weak transcription	HSMMtube	muscle
15	chr2:54215000-54242800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:54215200-54225200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:54216400-54242000	Weak transcription	Fetal Intestine Small	intestine
18	chr2:54216600-54226400	Weak transcription	Ovary	ovary
19	chr2:54217000-54225600	Weak transcription	Right Atrium	heart
20	chr2:54217000-54225800	Weak transcription	Psoas Muscle	Psoas
21	chr2:54217000-54226000	Weak transcription	Adipose Nuclei	Adipose
22	chr2:54217000-54226000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:54217000-54236600	Weak transcription	Brain Angular Gyrus	brain
24	chr2:54217000-54236800	Weak transcription	Brain Anterior Caudate	brain
25	chr2:54217000-54248200	Weak transcription	Gastric	stomach
26	chr2:54217200-54233800	Weak transcription	HepG2	liver
27	chr2:54217200-54239600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:54218400-54221600	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr2:54219000-54221200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:54219000-54221600	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr2:54219000-54221800	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr2:54219200-54226800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr2:54219400-54221600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:54219600-54221600	Enhancers	Primary T cells fromperipheralblood	blood
35	chr2:54220000-54221600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr2:54220000-54221600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr2:54220000-54221600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:54220200-54221600	Enhancers	Primary T cells from cord blood	blood
39	chr2:54220200-54221600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr2:54220200-54221600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr2:54220200-54223800	Enhancers	Primary B cells from peripheral blood	blood
42	chr2:54220400-54221600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr2:54220400-54221600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:54220600-54221800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:54220800-54221200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr2:54220800-54221600	Enhancers	Primary B cells from cord blood	blood

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