Variant report

Variant	rs553210045
Chromosome Location	chr7:65565205-65565206
allele	-/AGG/AGGAGG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:65563235..65566518-chr7:65579011..65581335,3	MCF-7	breast:
2	chr7:65563649..65566683-chr7:65578224..65580127,3	MCF-7	breast:
3	chr7:65563372..65566895-chr7:65568965..65573405,4	MCF-7	breast:
4	chr1:172501202..172501947-chr7:65564942..65565569,2	Hela-S3	cervix:
5	chr7:65564438..65566579-chr7:65590943..65592744,2	MCF-7	breast:
6	chr7:65563510..65565586-chr7:65577625..65580510,3	K562	blood:
7	chr7:65536863..65539073-chr7:65564586..65566634,2	MCF-7	breast:
8	chr7:65563966..65565586-chr7:65577625..65580510,2	K562	blood:
9	chr7:65558787..65560603-chr7:65563146..65565504,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GUSB-2	chr7:65565194-65565273	XLOC_006476

No data

Variant related genes	Relation type
ENSG00000094975	Chromatin interaction
ENSG00000241258	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	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv888325	chr7:65474919-65575893	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv3401611	chr7:65564802-65565289	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65558200-65569400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:65564400-65565600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr7:65564400-65565800	Active TSS	Rectal Smooth Muscle	rectum
4	chr7:65564600-65565400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:65564600-65565400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:65564600-65565400	Active TSS	Primary T killer memory cells from peripheral blood	blood
7	chr7:65564600-65565400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:65564600-65565400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:65564600-65565400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:65564600-65565400	Flanking Active TSS	Fetal Brain Male	brain
11	chr7:65564600-65565400	Flanking Active TSS	GM12878-XiMat	blood
12	chr7:65564600-65565600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:65564600-65565600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:65564600-65565600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr7:65564600-65565600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr7:65564600-65565600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr7:65564600-65565600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:65564600-65565600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:65564600-65565600	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr7:65564600-65565600	Flanking Active TSS	Brain Substantia Nigra	brain
21	chr7:65564600-65565600	Active TSS	Fetal Kidney	kidney
22	chr7:65564600-65565600	Flanking Active TSS	Fetal Stomach	stomach
23	chr7:65564600-65565600	Transcr. at gene 5' and 3'	Right Atrium	heart
24	chr7:65564600-65565600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr7:65564600-65565800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr7:65564600-65565800	Active TSS	Colon Smooth Muscle	Colon
27	chr7:65564600-65565800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr7:65564600-65565800	Active TSS	Fetal Brain Female	brain
29	chr7:65564600-65565800	Active TSS	Fetal Intestine Large	intestine
30	chr7:65564600-65565800	Flanking Active TSS	Placenta	Placenta
31	chr7:65564600-65565800	Active TSS	Ovary	ovary
32	chr7:65564600-65565800	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr7:65564600-65565800	Flanking Active TSS	Dnd41	blood
34	chr7:65564600-65566000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr7:65564600-65566000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:65564600-65566000	Active TSS	A549	lung
37	chr7:65564800-65565400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:65564800-65565400	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr7:65564800-65565400	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr7:65564800-65565400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:65564800-65565400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr7:65564800-65565400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr7:65564800-65565400	Flanking Active TSS	Fetal Thymus	thymus
44	chr7:65564800-65565400	Active TSS	Left Ventricle	heart
45	chr7:65564800-65565400	Flanking Active TSS	HepG2	liver
46	chr7:65564800-65565600	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr7:65564800-65565600	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr7:65564800-65565600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr7:65564800-65565600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:65564800-65565600	Active TSS	Aorta	Aorta

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