Variant report

Variant	rs545514530
Chromosome Location	chr2:48023815-48023816
allele	-/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48011141..48015679-chr2:48023292..48025475,4	MCF-7	breast:
2	chr2:48008730..48016091-chr2:48023378..48031018,13	K562	blood:

Variant related genes	Relation type
ENSG00000116062	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	nsv998096	chr2:47939614-48131697	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv979002	chr2:48023322-48025041	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48011800-48026200	Weak transcription	Stomach Mucosa	stomach
2	chr2:48012000-48024400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:48012000-48024600	Weak transcription	Aorta	Aorta
4	chr2:48012000-48024600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:48012000-48024800	Weak transcription	NHEK	skin
6	chr2:48012000-48026000	Weak transcription	Esophagus	oesophagus
7	chr2:48012000-48026000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:48012000-48026200	Weak transcription	Gastric	stomach
9	chr2:48012200-48024600	Weak transcription	Right Ventricle	heart
10	chr2:48012200-48026000	Weak transcription	Small Intestine	intestine
11	chr2:48012200-48030000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:48012600-48065000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:48013400-48024200	Weak transcription	Fetal Heart	heart
14	chr2:48013400-48025800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr2:48015000-48029600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:48016000-48029600	Strong transcription	Fetal Thymus	thymus
17	chr2:48016200-48029600	Strong transcription	Fetal Stomach	stomach
18	chr2:48016200-48030000	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr2:48016200-48050400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:48016400-48029800	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:48016600-48025800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:48016600-48030000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:48016800-48030200	Strong transcription	Fetal Muscle Leg	muscle
24	chr2:48017000-48036200	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr2:48017000-48049400	Strong transcription	Fetal Intestine Large	intestine
26	chr2:48017200-48024800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:48017200-48025800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:48017200-48053200	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:48017400-48032200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:48017400-48049600	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr2:48017800-48037800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:48018000-48025800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:48018000-48030200	Strong transcription	Brain Germinal Matrix	brain
34	chr2:48018000-48030400	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr2:48018200-48030200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:48018200-48030200	Strong transcription	Fetal Brain Female	brain
37	chr2:48018200-48030600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:48018400-48024800	Weak transcription	Pancreas	Pancrea
39	chr2:48018400-48029200	Strong transcription	A549	lung
40	chr2:48018400-48030200	Strong transcription	Primary B cells from peripheral blood	blood
41	chr2:48018600-48026600	Strong transcription	Fetal Intestine Small	intestine
42	chr2:48018600-48027400	Weak transcription	Psoas Muscle	Psoas
43	chr2:48018600-48030200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:48018800-48024600	Weak transcription	Spleen	Spleen
45	chr2:48019600-48030600	Strong transcription	Liver	Liver
46	chr2:48019800-48026600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:48020800-48030200	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:48020800-48030400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:48021000-48029800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:48021200-48029000	Strong transcription	HMEC	breast

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