Variant report

Variant	rs117387140
Chromosome Location	chr2:54806255-54806256
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54806062..54808345-chr2:54823269..54826209,2	MCF-7	breast:
2	chr2:54763015..54764801-chr2:54803765..54806395,2	K562	blood:
3	chr2:54735530..54737587-chr2:54805600..54807327,2	MCF-7	breast:
4	chr2:54781728..54792106-chr2:54796721..54808716,28	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115306	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv3340518	chr2:54805888-54806279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54795800-54807000	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr2:54795800-54807600	Enhancers	Duodenum Smooth Muscle	Duodenum
3	chr2:54796000-54807600	Enhancers	Brain Angular Gyrus	brain
4	chr2:54796200-54806400	Enhancers	Brain Anterior Caudate	brain
5	chr2:54796200-54806800	Enhancers	Pancreas	Pancrea
6	chr2:54796400-54808800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr2:54796800-54806800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr2:54796800-54807400	Enhancers	Psoas Muscle	Psoas
9	chr2:54796800-54810200	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr2:54796800-54810600	Enhancers	Small Intestine	intestine
11	chr2:54797400-54808400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:54797800-54807000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:54798800-54806400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:54798800-54806600	Weak transcription	Fetal Brain Male	brain
15	chr2:54800000-54807400	Enhancers	Right Ventricle	heart
16	chr2:54800200-54806400	Enhancers	Stomach Mucosa	stomach
17	chr2:54800800-54807000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:54801600-54806600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr2:54801600-54808600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:54801800-54806400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:54801800-54806400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:54801800-54806600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:54801800-54806600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr2:54801800-54806600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:54801800-54807400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:54801800-54811000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:54802000-54806400	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr2:54802000-54807000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr2:54802000-54808400	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr2:54802000-54816400	Enhancers	Liver	Liver
31	chr2:54802200-54806600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:54802200-54822600	Weak transcription	Esophagus	oesophagus
33	chr2:54802400-54808600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr2:54802600-54806400	Enhancers	Colonic Mucosa	Colon
35	chr2:54802800-54806400	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr2:54802800-54806600	Weak transcription	K562	blood
37	chr2:54803000-54806600	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr2:54803000-54807200	Enhancers	Brain Cingulate Gyrus	brain
39	chr2:54803000-54807200	Weak transcription	Dnd41	blood
40	chr2:54803000-54807800	Enhancers	Brain Hippocampus Middle	brain
41	chr2:54803200-54806600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:54803200-54806600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr2:54803200-54807000	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr2:54803200-54807600	Enhancers	HMEC	breast
45	chr2:54803400-54807200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:54803600-54806800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr2:54803600-54807000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:54803600-54807200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:54803600-54807200	Enhancers	Brain Substantia Nigra	brain
50	chr2:54803600-54807400	Enhancers	Brain Inferior Temporal Lobe	brain

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