Variant report

Variant	rs10228703
Chromosome Location	chr7:116656464-116656465
allele	A/G
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	MYC	chr7:116655774-116656484	K562	blood:	n/a	n/a
2	ARID3A	chr7:116654055-116657700	K562	blood:	n/a	chr7:116656765-116656781
3	JUN	chr7:116654077-116661129	K562	blood:	n/a	chr7:116659439-116659450 chr7:116656699-116656711
4	IRF1	chr7:116654258-116657670	K562	blood:	n/a	chr7:116655519-116655529 chr7:116654990-116655001 chr7:116656263-116656277 chr7:116656509-116656522 chr7:116656260-116656276 chr7:116656509-116656520 chr7:116654991-116655005 chr7:116654991-116655001 chr7:116656510-116656520 chr7:116654990-116655003 chr7:116656510-116656524
5	MXI1	chr7:116654044-116657552	SK-N-SH	brain:	n/a	n/a

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	chr7:116655560..116657072-chr7:116673244..116674855,2	K562	blood:
4	chr7:116500946..116504332-chr7:116654661..116656841,4	K562	blood:
5	7:116651084-116657331..7:117341506-117356953	Hela-S3	cervix:
6	chr7:116591034..116595853-chr7:116650615..116657201,10	K562	blood:

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

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10233410	0.82[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	0.82[YRI][hapmap]
rs10262342	0.93[YRI][hapmap]
rs10275342	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17139275	0.82[YRI][hapmap]
rs17139321	0.94[YRI][hapmap]
rs17139357	0.93[YRI][hapmap]
rs17438522	0.88[YRI][hapmap]
rs3808217	0.93[YRI][hapmap]
rs3808220	0.93[YRI][hapmap]
rs57013377	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116635800-116660200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:116639800-116660000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:116650800-116659600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:116651200-116660000	Weak transcription	Ovary	ovary
5	chr7:116651400-116660000	Weak transcription	Left Ventricle	heart
6	chr7:116651800-116660000	Weak transcription	Right Ventricle	heart
7	chr7:116652000-116657600	Weak transcription	Aorta	Aorta
8	chr7:116652800-116657000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr7:116653400-116657000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:116654600-116657000	Active TSS	K562	blood
11	chr7:116654800-116657200	Active TSS	GM12878-XiMat	blood
12	chr7:116655000-116657800	Weak transcription	HSMMtube	muscle
13	chr7:116655000-116659600	Weak transcription	Brain Angular Gyrus	brain
14	chr7:116655000-116660000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:116655000-116660000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr7:116655000-116660000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr7:116655000-116660000	Weak transcription	HSMM	muscle
18	chr7:116655000-116660800	Weak transcription	Small Intestine	intestine
19	chr7:116655200-116657800	Weak transcription	NHLF	lung
20	chr7:116655200-116659400	Weak transcription	NH-A	brain
21	chr7:116655200-116659600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr7:116655200-116659600	Weak transcription	HUVEC	blood vessel
23	chr7:116655200-116660000	Weak transcription	Fetal Muscle Leg	muscle
24	chr7:116655200-116660000	Weak transcription	Psoas Muscle	Psoas
25	chr7:116655200-116660000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr7:116655400-116657600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:116655400-116659600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:116655400-116659600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr7:116655600-116658000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr7:116655600-116659800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr7:116655600-116659800	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:116655600-116660000	Weak transcription	Osteobl	bone
33	chr7:116655600-116663000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr7:116655800-116656600	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr7:116655800-116658000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr7:116655800-116658200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr7:116655800-116659400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:116655800-116659600	Weak transcription	NHDF-Ad	bronchial
39	chr7:116655800-116659800	Enhancers	Fetal Heart	heart
40	chr7:116655800-116659800	Weak transcription	Fetal Lung	lung
41	chr7:116655800-116660000	Weak transcription	Adipose Nuclei	Adipose
42	chr7:116655800-116660000	Weak transcription	Right Atrium	heart
43	chr7:116655800-116662800	Weak transcription	Primary T cells from cord blood	blood
44	chr7:116656000-116657000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:116656000-116657200	Weak transcription	Brain Anterior Caudate	brain
46	chr7:116656000-116657400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:116656000-116657400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:116656000-116658000	Weak transcription	NHEK	skin
49	chr7:116656000-116658400	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr7:116656000-116659600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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