Variant report

Variant	rs577609934
Chromosome Location	chr7:129141531-129141532
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HA-E2F1	chr7:129141408-129143106	MCF-7	breast:	n/a	chr7:129142698-129142712
2	CTCF	chr7:129141520-129141670	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:128862636..128865560-chr7:129140029..129143022,2	K562	blood:
2	chr7:129138671..129141978-chr7:129250078..129253028,4	K562	blood:
3	chr7:129139139..129142160-chr7:129272114..129275915,3	MCF-7	breast:
4	chr7:129141127..129144491-chr7:129250183..129252967,6	MCF-7	breast:
5	chr7:129139279..129144298-chr7:129248057..129253593,12	MCF-7	breast:

Variant related genes	Relation type
SMKR1	TF binding region
ENSG00000158467	Chromatin interaction
ENSG00000273329	Chromatin interaction
ENSG00000106459	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	nsv831128	chr7:129063040-129240800	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv3476763	chr7:129141037-129143315	Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv3476762	chr7:129141086-129143283	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv3476765	chr7:129141108-129143242	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	esv3476766	chr7:129141178-129143206	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129104200-129141600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:129122000-129141800	Weak transcription	Right Ventricle	heart
3	chr7:129129400-129141800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:129133600-129141600	Weak transcription	Primary T cells from cord blood	blood
5	chr7:129134000-129141600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr7:129136200-129141600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:129137400-129141800	Weak transcription	Right Atrium	heart
8	chr7:129137400-129141800	Weak transcription	Spleen	Spleen
9	chr7:129137800-129141600	Weak transcription	Placenta	Placenta
10	chr7:129139600-129141600	Enhancers	Primary B cells from peripheral blood	blood
11	chr7:129139600-129141800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:129139800-129141600	Enhancers	GM12878-XiMat	blood
13	chr7:129140000-129141600	Enhancers	Fetal Brain Female	brain
14	chr7:129141000-129141600	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr7:129141000-129142200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:129141200-129141600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:129141200-129141600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr7:129141200-129141600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr7:129141200-129141600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr7:129141200-129141600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:129141200-129141600	Enhancers	A549	lung
22	chr7:129141200-129141800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr7:129141200-129143000	Active TSS	Brain Anterior Caudate	brain
24	chr7:129141400-129141600	Enhancers	Primary B cells from cord blood	blood
25	chr7:129141400-129141600	Enhancers	Primary T cells fromperipheralblood	blood
26	chr7:129141400-129141600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr7:129141400-129141600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:129141400-129141600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr7:129141400-129141600	Bivalent Enhancer	HepG2	liver
30	chr7:129141400-129141800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:129141400-129141800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr7:129141400-129142000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:129141400-129142800	Flanking Active TSS	Dnd41	blood
34	chr7:129141400-129143000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:129141400-129143200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
36	chr7:129141400-129143200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
37	chr7:129141400-129143200	Active TSS	Hela-S3	cervix
38	chr7:129141400-129143400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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