Variant report

Variant	rs10275342
Chromosome Location	chr7:116653566-116653567
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr7:116652524-116653634	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr7:116653361-116653587	SH-SY5Y	brain:	n/a	n/a
3	POLR2A	chr7:116651549-116654196	K562	blood:	n/a	n/a
4	CTCF	chr7:116653440-116653590	GM12864	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:116610596-116619447..7:116651084-116657331	H1-hESC	embryonic stem cell:	embryo
2	chr7:116589691..116599368-chr7:116647062..116658963,30	K562	blood:
3	chr7:116640801..116642552-chr7:116652189..116653977,2	K562	blood:
4	7:116651084-116657331..7:117341506-117356953	Hela-S3	cervix:
5	chr7:116500369..116502943-chr7:116652939..116655757,2	K562	blood:
6	chr7:116591034..116595853-chr7:116650615..116657201,10	K562	blood:

No data

Variant related genes	Relation type
ST7	TF binding region
ENSG00000213050	Chromatin interaction
ENSG00000227199	Chromatin interaction
ENSG00000198898	Chromatin interaction
ENSG00000004866	Chromatin interaction
ENSG00000001626	Chromatin interaction
ENSG00000214188	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10228703	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10233410	0.86[YRI][hapmap]
rs10236117	0.88[AFR][1000 genomes]
rs10251673	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10259701	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10261102	0.86[YRI][hapmap]
rs10262342	1.00[YRI][hapmap]
rs11760206	1.00[MEX][hapmap]
rs17139275	0.86[YRI][hapmap]
rs17139321	0.93[YRI][hapmap]
rs17139357	0.89[ASW][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap];0.93[YRI][hapmap]
rs17438522	0.93[YRI][hapmap]
rs3808217	0.81[ASW][hapmap];0.89[LWK][hapmap];0.93[YRI][hapmap]
rs3808220	0.81[ASW][hapmap];0.90[LWK][hapmap];0.93[YRI][hapmap]
rs57013377	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6951094	1.00[MEX][hapmap]
rs73472894	1.00[AFR][1000 genomes]
rs73475024	0.83[AMR][1000 genomes]
rs73475046	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527321	chr7:116635048-116660803	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116635600-116654800	Weak transcription	Psoas Muscle	Psoas
2	chr7:116635800-116660200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:116639800-116660000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:116645800-116654200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:116646400-116653600	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr7:116646400-116654000	Weak transcription	NHLF	lung
7	chr7:116646400-116654400	Weak transcription	NHDF-Ad	bronchial
8	chr7:116648000-116654400	Weak transcription	Fetal Lung	lung
9	chr7:116649400-116654400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:116649600-116654000	Enhancers	K562	blood
11	chr7:116649600-116654400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:116650200-116654400	Weak transcription	Brain Anterior Caudate	brain
13	chr7:116650600-116654400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:116650600-116654400	Weak transcription	NH-A	brain
15	chr7:116650600-116655400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr7:116650800-116659600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr7:116651000-116654200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:116651000-116654200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:116651000-116654200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:116651000-116654400	Weak transcription	NHEK	skin
21	chr7:116651000-116654600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:116651200-116654400	Weak transcription	Brain Substantia Nigra	brain
23	chr7:116651200-116654400	Weak transcription	HMEC	breast
24	chr7:116651200-116654400	Weak transcription	HSMM	muscle
25	chr7:116651200-116660000	Weak transcription	Ovary	ovary
26	chr7:116651400-116654400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr7:116651400-116654400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:116651400-116660000	Weak transcription	Left Ventricle	heart
29	chr7:116651800-116654200	Weak transcription	Small Intestine	intestine
30	chr7:116651800-116654600	Weak transcription	HSMMtube	muscle
31	chr7:116651800-116660000	Weak transcription	Right Ventricle	heart
32	chr7:116652000-116654000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr7:116652000-116654200	Weak transcription	Osteobl	bone
34	chr7:116652000-116654800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:116652000-116654800	Weak transcription	Right Atrium	heart
36	chr7:116652000-116654800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:116652000-116655400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr7:116652000-116655600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr7:116652000-116657600	Weak transcription	Aorta	Aorta
40	chr7:116652200-116654000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:116652200-116654400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr7:116652200-116655600	Weak transcription	Primary T cells from cord blood	blood
43	chr7:116652200-116655600	Weak transcription	Colon Smooth Muscle	Colon
44	chr7:116652400-116654000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:116652400-116654400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr7:116652400-116654400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr7:116652600-116654000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr7:116652800-116654200	Enhancers	GM12878-XiMat	blood
49	chr7:116652800-116654800	Weak transcription	A549	lung
50	chr7:116652800-116657000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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