Variant report

Variant	rs527718994
Chromosome Location	chr14:55346484-55346485
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55343213..55346860-chr14:55368496..55370471,3	MCF-7	breast:
2	chr14:55343813..55346930-chr14:55349782..55354238,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131979	Chromatin interaction
ENSG00000258872	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	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	esv3323442	chr14:55346027-55348775	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
4	esv3358447	chr14:55346377-55348700	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55329400-55347800	Weak transcription	Primary B cells from cord blood	blood
2	chr14:55330800-55347800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr14:55331800-55347600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr14:55337400-55347800	Weak transcription	HSMMtube	muscle
5	chr14:55337600-55348600	Weak transcription	Hela-S3	cervix
6	chr14:55343800-55347800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr14:55343800-55348200	Weak transcription	Fetal Intestine Large	intestine
8	chr14:55344000-55346800	Weak transcription	Primary T cells from cord blood	blood
9	chr14:55344000-55347800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr14:55344200-55347600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:55344400-55347800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr14:55345000-55347600	Weak transcription	HUVEC	blood vessel
13	chr14:55345000-55348000	Weak transcription	HepG2	liver
14	chr14:55345400-55347800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr14:55345400-55347800	Weak transcription	GM12878-XiMat	blood
16	chr14:55345400-55348200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr14:55345400-55354800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr14:55345400-55368200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:55345600-55346600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr14:55345600-55346600	Strong transcription	Fetal Intestine Small	intestine
21	chr14:55345600-55347800	Enhancers	Primary T cells fromperipheralblood	blood
22	chr14:55345600-55348000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr14:55345600-55348000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr14:55345800-55347800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr14:55346000-55347000	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr14:55346000-55347800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:55346200-55346600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:55346200-55346600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr14:55346200-55346600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:55346200-55346600	Flanking Active TSS	Liver	Liver
31	chr14:55346200-55347000	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr14:55346200-55347000	Active TSS	Duodenum Mucosa	Duodenum
33	chr14:55346200-55347200	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr14:55346200-55347600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr14:55346200-55347800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr14:55346200-55348000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr14:55346400-55346600	Enhancers	Placenta	Placenta
38	chr14:55346400-55346600	Enhancers	Psoas Muscle	Psoas
39	chr14:55346400-55346600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr14:55346400-55346600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr14:55346400-55347000	Enhancers	Primary hematopoietic stem cells	blood
42	chr14:55346400-55347600	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr14:55346400-55347600	Enhancers	Dnd41	blood

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