Variant report

Variant	rs371546417
Chromosome Location	chr2:148641926-148641927
allele	-/GCATGGAACT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:148631936..148634646-chr2:148640576..148642196,2	K562	blood:
2	chr2:148633010..148635372-chr2:148639635..148642238,3	K562	blood:
3	chr2:148641518..148643796-chr2:148645034..148647455,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000212389	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	nsv875275	chr2:148166428-148711242	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv3405592	chr2:148641025-148650069	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148623600-148642600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:148634600-148642400	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:148634600-148642800	Weak transcription	Ovary	ovary
4	chr2:148634600-148668200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:148635600-148645800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:148637200-148752600	Weak transcription	Small Intestine	intestine
7	chr2:148637400-148654800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:148638800-148642200	Weak transcription	Psoas Muscle	Psoas
9	chr2:148638800-148645200	Weak transcription	Fetal Intestine Small	intestine
10	chr2:148639000-148654800	Weak transcription	Fetal Intestine Large	intestine
11	chr2:148639800-148646000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:148640000-148642800	Enhancers	Fetal Lung	lung
13	chr2:148640200-148644400	Weak transcription	Right Atrium	heart
14	chr2:148640200-148644600	Weak transcription	Fetal Heart	heart
15	chr2:148640400-148642000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:148640400-148642200	Weak transcription	Brain Germinal Matrix	brain
17	chr2:148640600-148642200	Weak transcription	Stomach Mucosa	stomach
18	chr2:148641000-148642800	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr2:148641000-148644400	Weak transcription	Left Ventricle	heart
20	chr2:148641200-148642200	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr2:148641200-148642800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr2:148641400-148642400	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr2:148641400-148642800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:148641400-148642800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:148641400-148643800	Enhancers	Colon Smooth Muscle	Colon
26	chr2:148641400-148644000	Enhancers	Rectal Smooth Muscle	rectum
27	chr2:148641600-148642600	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr2:148641600-148642800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr2:148641600-148643200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr2:148641600-148645400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr2:148641800-148642000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr2:148641800-148642000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:148641800-148642200	Weak transcription	Adipose Nuclei	Adipose
34	chr2:148641800-148642200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr2:148641800-148642400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:148641800-148642400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr2:148641800-148642600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr2:148641800-148642600	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr2:148641800-148642600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:148641800-148642800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr2:148641800-148642800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:148641800-148642800	Enhancers	HepG2	liver
43	chr2:148641800-148643000	Enhancers	Liver	Liver
44	chr2:148641800-148644200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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