Variant report

Variant	rs11102694
Chromosome Location	chr1:114426001-114426002
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114391050..114392741-chr1:114424919..114426499,2	MCF-7	breast:
2	chr1:114423797..114426285-chr1:114447474..114448994,2	K562	blood:
3	chr1:114418599..114421976-chr1:114424069..114426568,3	MCF-7	breast:
4	chr1:114422800..114426038-chr1:114435058..114437356,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134262	Chromatin interaction
ENSG00000118655	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11102702	0.90[AMR][1000 genomes]
rs11552449	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12046289	0.80[AMR][1000 genomes]
rs2358994	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2358995	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3761936	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7513707	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1826178	chr1:114331645-114471583	Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv1842398	chr1:114331645-114471583	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv1848035	chr1:114331645-114471583	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers 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	57 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114415000-114447000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:114415400-114428800	Weak transcription	Colonic Mucosa	Colon
3	chr1:114415400-114437000	Weak transcription	Thymus	Thymus
4	chr1:114417200-114437000	Weak transcription	Primary B cells from cord blood	blood
5	chr1:114417600-114428800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:114419000-114427800	Weak transcription	Pancreas	Pancrea
7	chr1:114420200-114437800	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:114420200-114446400	Weak transcription	Aorta	Aorta
9	chr1:114421800-114429600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:114422400-114429000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:114422800-114429000	Weak transcription	Fetal Stomach	stomach
12	chr1:114423000-114428000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:114423400-114429600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr1:114423600-114436000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:114424000-114426400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr1:114424000-114429000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr1:114424000-114429800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:114424200-114429000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr1:114424200-114429200	Weak transcription	Primary T cells from cord blood	blood
20	chr1:114424200-114429800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr1:114424200-114437800	Weak transcription	Brain Germinal Matrix	brain
22	chr1:114424400-114429000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:114424400-114436200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr1:114424600-114426400	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:114424600-114426800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr1:114424600-114427800	Weak transcription	Stomach Mucosa	stomach
27	chr1:114424600-114428000	Weak transcription	Fetal Intestine Large	intestine
28	chr1:114424600-114428000	Weak transcription	Gastric	stomach
29	chr1:114424600-114428800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr1:114424600-114428800	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr1:114424600-114429000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:114424600-114429200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr1:114424600-114430000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr1:114424600-114431200	Weak transcription	Small Intestine	intestine
35	chr1:114424600-114433200	Weak transcription	GM12878-XiMat	blood
36	chr1:114424600-114436400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr1:114424600-114436600	Weak transcription	Fetal Thymus	thymus
38	chr1:114424600-114437800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr1:114424600-114438800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:114424600-114442400	Weak transcription	Psoas Muscle	Psoas
41	chr1:114424800-114426400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr1:114424800-114429000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:114424800-114429800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:114424800-114430200	Weak transcription	Dnd41	blood
45	chr1:114425000-114436800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:114425200-114436200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr1:114425400-114428600	Weak transcription	Fetal Intestine Small	intestine
48	chr1:114425400-114436400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:114425400-114437400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr1:114425600-114436400	Weak transcription	Brain Substantia Nigra	brain

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