Variant report

Variant	rs11252318
Chromosome Location	chr10:4115502-4115503
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:3826070..3828691-chr10:4114442..4117278,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000067082	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12413622	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12774305	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17257679	0.82[ASN][1000 genomes]
rs2003416	0.88[AFR][1000 genomes]
rs4880665	0.83[ASN][1000 genomes]
rs7914320	0.88[AFR][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	nsv1051297	chr10:3908706-4277678	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv831772	chr10:4039292-4212218	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1046213	chr10:4059937-4144692	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv540460	chr10:4059937-4144692	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11252318	AKR1C1	cis	cerebellum	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4104400-4117200	Weak transcription	Small Intestine	intestine
2	chr10:4109800-4116200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr10:4110200-4116000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr10:4110400-4115800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr10:4110400-4116000	Weak transcription	HSMM	muscle
6	chr10:4110400-4117000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr10:4110600-4116200	Weak transcription	Stomach Mucosa	stomach
8	chr10:4110800-4115800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr10:4110800-4116000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr10:4112000-4116000	Weak transcription	Primary T cells from cord blood	blood
11	chr10:4112000-4116000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr10:4112000-4116000	Weak transcription	Right Ventricle	heart
13	chr10:4112000-4116200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr10:4112000-4116200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr10:4112000-4116200	Weak transcription	Fetal Thymus	thymus
16	chr10:4112000-4116200	Weak transcription	Left Ventricle	heart
17	chr10:4112000-4122000	Weak transcription	Spleen	Spleen
18	chr10:4112000-4124600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr10:4112200-4115600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr10:4112200-4115800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr10:4112200-4115800	Weak transcription	Adipose Nuclei	Adipose
22	chr10:4112200-4115800	Weak transcription	HSMMtube	muscle
23	chr10:4112200-4115800	Weak transcription	NHLF	lung
24	chr10:4112200-4116000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr10:4112200-4116000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr10:4112200-4116000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr10:4112200-4116200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr10:4112200-4116200	Weak transcription	Right Atrium	heart
29	chr10:4112200-4116200	Weak transcription	Dnd41	blood
30	chr10:4112200-4116200	Weak transcription	NH-A	brain
31	chr10:4112400-4116000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr10:4112400-4116400	Weak transcription	Fetal Heart	heart
33	chr10:4113000-4116200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr10:4113200-4116800	Weak transcription	Ovary	ovary
35	chr10:4113400-4116000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr10:4113400-4116200	Weak transcription	Esophagus	oesophagus
37	chr10:4113400-4116200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr10:4113600-4116200	Weak transcription	Colon Smooth Muscle	Colon
39	chr10:4113800-4116800	Weak transcription	Aorta	Aorta
40	chr10:4114800-4116800	Enhancers	NHEK	skin
41	chr10:4114800-4117400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr10:4114800-4117600	Enhancers	NHDF-Ad	bronchial
43	chr10:4114800-4117800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr10:4114800-4117800	Enhancers	Osteobl	bone
45	chr10:4114800-4118200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr10:4114800-4118200	Enhancers	HMEC	breast
47	chr10:4115000-4117800	Enhancers	Muscle Satellite Cultured Cells	--
48	chr10:4115000-4117800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr10:4115200-4115600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr10:4115200-4115600	Weak transcription	HUVEC	blood vessel

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