Variant report

Variant	rs7974971
Chromosome Location	chr12:45746432-45746433
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	chr12:45685556..45688116-chr12:45745612..45748267,2	K562	blood:
2	chr12:45608497..45610425-chr12:45745264..45746860,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134297	Chromatin interaction
ENSG00000177119	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs12580320	1.00[AFR][1000 genomes]
rs12580810	1.00[AFR][1000 genomes]
rs1316777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1316778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2081592	0.98[AFR][1000 genomes]
rs2162321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3847983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3847984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4108249	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4108250	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs55708540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55812173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56408748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57858655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58221634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58409854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58824383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59436840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59728495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59789543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60011223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60287166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60457106	1.00[AFR][1000 genomes]
rs60831882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61265799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61349051	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7134442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7294399	1.00[AFR][1000 genomes]
rs7299229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7305478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080884	1.00[AFR][1000 genomes]
rs7956153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7960365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7969594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7969966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7970586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7971106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7975088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45699800-45747800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr12:45723800-45757000	Weak transcription	Brain Hippocampus Middle	brain
3	chr12:45725800-45782000	Weak transcription	Brain Angular Gyrus	brain
4	chr12:45726600-45747200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:45734600-45747600	Weak transcription	Stomach Mucosa	stomach
6	chr12:45735400-45755200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr12:45737400-45748800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:45738800-45754600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:45739000-45756000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr12:45739200-45752000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:45739800-45746600	Strong transcription	Primary T cells from cord blood	blood
12	chr12:45740000-45747800	Strong transcription	Fetal Thymus	thymus
13	chr12:45740400-45746600	Strong transcription	Fetal Muscle Trunk	muscle
14	chr12:45740400-45747200	Strong transcription	Fetal Intestine Large	intestine
15	chr12:45740400-45755000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:45740800-45748200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:45740800-45757600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr12:45741000-45752000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:45741400-45755400	Weak transcription	Brain Anterior Caudate	brain
20	chr12:45741800-45746800	Strong transcription	Fetal Lung	lung
21	chr12:45741800-45747000	Strong transcription	Adipose Nuclei	Adipose
22	chr12:45742000-45746800	Strong transcription	Duodenum Mucosa	Duodenum
23	chr12:45742200-45747400	Weak transcription	Small Intestine	intestine
24	chr12:45742600-45750600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr12:45742800-45758000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr12:45744200-45747800	Weak transcription	HSMMtube	muscle
27	chr12:45744200-45750800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:45744200-45751000	Weak transcription	Right Atrium	heart
29	chr12:45744800-45747400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:45744800-45749400	Weak transcription	K562	blood
31	chr12:45744800-45750200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:45744800-45758800	Weak transcription	Psoas Muscle	Psoas
33	chr12:45744800-45809200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:45745000-45746800	Enhancers	Ovary	ovary
35	chr12:45745000-45747400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:45745000-45748000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr12:45745000-45749200	Weak transcription	Aorta	Aorta
38	chr12:45745000-45751000	Weak transcription	Fetal Heart	heart
39	chr12:45745000-45751200	Weak transcription	NHDF-Ad	bronchial
40	chr12:45745000-45751800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:45745000-45753800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:45745000-45754000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr12:45745000-45756800	Weak transcription	Esophagus	oesophagus
44	chr12:45745000-45757000	Weak transcription	Spleen	Spleen
45	chr12:45745000-45762000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:45745000-45763600	Weak transcription	Pancreas	Pancrea
47	chr12:45745000-45763800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr12:45745000-45779800	Weak transcription	Gastric	stomach
49	chr12:45745200-45747400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:45745200-45747600	Weak transcription	NH-A	brain

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