Variant report

Variant	rs10248910
Chromosome Location	chr7:121028988-121028989
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:121028108..121030349-chr7:121074356..121077552,3	K562	blood:
2	chr7:121028054..121033161-chr7:121034534..121038947,14	MCF-7	breast:
3	chr7:121028768..121031547-chr7:121200681..121202494,2	K562	blood:
4	chr7:121012610..121014934-chr7:121028232..121030645,2	K562	blood:
5	chr7:121019447..121023769-chr7:121027958..121032895,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213310	Chromatin interaction
ENSG00000196937	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10225647	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10232028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10237944	1.00[AMR][1000 genomes]
rs10270194	1.00[AMR][1000 genomes]
rs10274424	1.00[AMR][1000 genomes]
rs12111905	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12535821	1.00[AMR][1000 genomes]
rs13438018	1.00[AMR][1000 genomes]
rs17143353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17143357	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28635533	1.00[AMR][1000 genomes]
rs2896303	1.00[AMR][1000 genomes]
rs56835233	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57412322	1.00[AMR][1000 genomes]
rs59723881	1.00[AMR][1000 genomes]
rs6943177	1.00[AMR][1000 genomes]
rs6944198	1.00[AMR][1000 genomes]
rs6944409	1.00[AMR][1000 genomes]
rs6960006	1.00[AMR][1000 genomes]
rs6975632	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1034353	chr7:120818382-121040576	Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2755350	chr7:120848049-121119049	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1032054	chr7:120926379-121432971	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv539103	chr7:120926379-121432971	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120979800-121034800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:120984200-121035000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr7:120986200-121029600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:121000800-121029600	Weak transcription	Brain Angular Gyrus	brain
5	chr7:121005000-121030600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:121005200-121035000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:121010200-121034600	Weak transcription	Fetal Brain Male	brain
8	chr7:121016000-121035400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:121016200-121035000	Weak transcription	Fetal Stomach	stomach
10	chr7:121016200-121035600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:121017600-121032400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:121018000-121035400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr7:121018400-121031600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr7:121018600-121032400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr7:121018600-121032400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:121018600-121034600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:121018600-121034800	Weak transcription	Fetal Brain Female	brain
18	chr7:121018600-121034800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr7:121018600-121035600	Weak transcription	Gastric	stomach
20	chr7:121018800-121034400	Weak transcription	Liver	Liver
21	chr7:121018800-121035400	Weak transcription	Placenta	Placenta
22	chr7:121020000-121035400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr7:121020200-121031400	Weak transcription	K562	blood
24	chr7:121020200-121035000	Weak transcription	Thymus	Thymus
25	chr7:121021400-121030800	Weak transcription	NHEK	skin
26	chr7:121021400-121032600	Weak transcription	HMEC	breast
27	chr7:121021600-121034200	Weak transcription	Hela-S3	cervix
28	chr7:121022200-121031400	Enhancers	Primary B cells from cord blood	blood
29	chr7:121022200-121031600	Weak transcription	HepG2	liver
30	chr7:121022800-121032000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:121023400-121032400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr7:121024200-121030400	Weak transcription	Fetal Thymus	thymus
33	chr7:121024800-121035000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:121025200-121029800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:121025600-121032400	Weak transcription	Lung	lung
36	chr7:121026000-121029200	Weak transcription	NH-A	brain
37	chr7:121026000-121031600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:121026200-121030600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:121026200-121030600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr7:121026200-121031200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:121026200-121032200	Weak transcription	Fetal Muscle Leg	muscle
42	chr7:121026200-121032400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:121026200-121032400	Weak transcription	Osteobl	bone
44	chr7:121026200-121032600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr7:121026200-121034400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr7:121026200-121034600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr7:121026200-121034600	Weak transcription	Ovary	ovary
48	chr7:121026200-121034600	Weak transcription	A549	lung
49	chr7:121026200-121034800	Weak transcription	Brain Hippocampus Middle	brain
50	chr7:121026200-121035000	Weak transcription	Primary T cells fromperipheralblood	blood

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