Variant report

Variant	rs626103
Chromosome Location	chr12:121230242-121230243
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121227665..121229362-chr12:121229925..121232592,2	MCF-7	breast:
2	chr12:120729295..120732240-chr12:121229424..121231608,2	K562	blood:

Variant related genes	Relation type
ENSG00000202538	Chromatin interaction
ENSG00000200795	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs497457	0.87[AMR][1000 genomes]
rs498255	0.87[AMR][1000 genomes]
rs515784	0.87[AMR][1000 genomes]
rs519785	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs530162	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs554197	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs572009	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs581515	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs582678	1.00[AMR][1000 genomes]
rs591489	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs627211	0.87[AMR][1000 genomes]
rs639343	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs645786	0.87[AMR][1000 genomes]
rs651156	1.00[AMR][1000 genomes]
rs660878	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs671815	0.87[AMR][1000 genomes]
rs708784	0.86[AFR][1000 genomes];1.00[AMR][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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv1801139	chr12:121228410-121241933	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121206200-121238600	Weak transcription	Small Intestine	intestine
2	chr12:121207200-121233000	Weak transcription	HSMMtube	muscle
3	chr12:121209400-121236800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:121211400-121260800	Weak transcription	Gastric	stomach
5	chr12:121212600-121236600	Weak transcription	Fetal Heart	heart
6	chr12:121213200-121231200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:121221000-121250000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:121221200-121233000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:121221200-121233600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:121221200-121249400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:121221400-121230400	Weak transcription	HMEC	breast
12	chr12:121221400-121231000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:121221400-121232800	Weak transcription	A549	lung
14	chr12:121221400-121235800	Weak transcription	Hela-S3	cervix
15	chr12:121221400-121240800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr12:121221600-121238800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr12:121222000-121233200	Weak transcription	NHEK	skin
18	chr12:121222000-121233800	Weak transcription	Fetal Stomach	stomach
19	chr12:121222200-121231200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:121222200-121231200	Weak transcription	Fetal Brain Female	brain
21	chr12:121222200-121237200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:121222200-121274000	Weak transcription	Lung	lung
23	chr12:121222400-121231200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:121222400-121238800	Weak transcription	Placenta	Placenta
25	chr12:121222400-121240400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr12:121222600-121230600	Weak transcription	Adipose Nuclei	Adipose
27	chr12:121222600-121231000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:121222600-121231200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:121222600-121232200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr12:121222600-121233200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:121222600-121237200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr12:121222600-121249200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr12:121222600-121259000	Weak transcription	Ovary	ovary
34	chr12:121222600-121260800	Weak transcription	Spleen	Spleen
35	chr12:121222600-121268600	Weak transcription	Esophagus	oesophagus
36	chr12:121222600-121268600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr12:121222800-121233200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr12:121222800-121237200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:121222800-121237400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:121222800-121240600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:121222800-121245600	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr12:121222800-121249400	Weak transcription	HSMM	muscle
43	chr12:121223000-121231200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:121223000-121233000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr12:121226200-121230800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:121226200-121237200	Weak transcription	Psoas Muscle	Psoas
47	chr12:121226400-121232600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:121226800-121231200	Weak transcription	Primary B cells from peripheral blood	blood
49	chr12:121227000-121232600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:121228000-121231400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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