Variant report

Variant	rs10250051
Chromosome Location	chr7:103839380-103839381
allele	C/T
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	TRIM28	chr7:103839154-103839670	K562	blood:	n/a	n/a
2	SETDB1	chr7:103839116-103839612	U2OS	brain:	n/a	n/a
3	SETDB1	chr7:103839100-103839783	K562	blood:	n/a	n/a
4	SETDB1	chr7:103839200-103839900	K562	blood:	n/a	n/a
5	CBX3	chr7:103839285-103839705	K562	blood:	n/a	n/a
6	CBX3	chr7:103839082-103839761	K562	blood:	n/a	n/a
7	KAP1	chr7:103839210-103839863	K562	blood:	n/a	n/a
8	POLR2A	chr7:103839170-103839537	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:103839265..103844326-chr7:103845849..103850093,7	K562	blood:
2	chr7:103839347..103842114-chr7:103842519..103845580,4	K562	blood:

Variant related genes	Relation type
ORC5	TF binding region
ENSG00000164815	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10155973	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10230637	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10232393	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10245622	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10248278	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10251976	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10260238	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10275705	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10277637	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10279675	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10279892	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10281636	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16873424	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55749110	0.92[EUR][1000 genomes]
rs55901574	0.94[EUR][1000 genomes]
rs56390129	0.97[EUR][1000 genomes]
rs57278162	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59290626	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6949887	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6971709	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73415708	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73415709	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73415730	0.94[AFR][1000 genomes]
rs73415735	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73415737	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73417705	0.81[AFR][1000 genomes]
rs9656093	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv1019640	chr7:103813522-103884705	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
2	nsv1026481	chr7:103813522-103890770	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
3	esv2762692	chr7:103813522-103890782	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	nsv526062	chr7:103817597-103891085	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	nsv608065	chr7:103817597-103990755	Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103765600-103840200	Weak transcription	Small Intestine	intestine
2	chr7:103767200-103843600	Weak transcription	Right Ventricle	heart
3	chr7:103796400-103843600	Weak transcription	Fetal Brain Male	brain
4	chr7:103797200-103847000	Weak transcription	Fetal Heart	heart
5	chr7:103816000-103846200	Weak transcription	Stomach Mucosa	stomach
6	chr7:103818600-103839600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:103821800-103839400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:103822000-103845400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:103822600-103839600	Strong transcription	K562	blood
10	chr7:103825200-103839600	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:103826400-103844400	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr7:103826800-103844600	Strong transcription	Adipose Nuclei	Adipose
13	chr7:103827400-103844600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:103830000-103839600	Weak transcription	NHLF	lung
15	chr7:103830400-103839400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr7:103830400-103839600	Weak transcription	HSMMtube	muscle
17	chr7:103830600-103839600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr7:103831600-103840000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:103831600-103844400	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr7:103831800-103840400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr7:103831800-103842200	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr7:103831800-103844200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr7:103831800-103844400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:103831800-103844400	Strong transcription	Fetal Lung	lung
25	chr7:103832800-103846600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr7:103833800-103844800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:103834000-103840200	Weak transcription	NHDF-Ad	bronchial
28	chr7:103834000-103844400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:103834400-103844600	Strong transcription	Liver	Liver
30	chr7:103834600-103839400	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:103834600-103839400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:103834600-103839600	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr7:103834600-103844600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:103834800-103839600	Strong transcription	Fetal Intestine Large	intestine
35	chr7:103834800-103844600	Strong transcription	Stomach Smooth Muscle	stomach
36	chr7:103835200-103844200	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr7:103835400-103839600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:103835400-103844200	Strong transcription	Placenta	Placenta
39	chr7:103835600-103844200	Strong transcription	Fetal Muscle Trunk	muscle
40	chr7:103835800-103839600	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr7:103835800-103844200	Strong transcription	Primary T cells from cord blood	blood
42	chr7:103836600-103844400	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr7:103836800-103844400	Strong transcription	HSMM	muscle
44	chr7:103836800-103844800	Strong transcription	A549	lung
45	chr7:103837000-103839400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr7:103837000-103839600	Weak transcription	Brain Anterior Caudate	brain
47	chr7:103837000-103844000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr7:103837000-103844400	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr7:103837200-103839800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr7:103837200-103844400	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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