Variant report

Variant	rs7303506
Chromosome Location	chr12:51189244-51189245
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51156472..51159680-chr12:51184419..51189273,5	MCF-7	breast:
2	chr12:51156696..51159478-chr12:51186693..51190528,4	K562	blood:

Variant related genes	Relation type
ENSG00000123268	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs61735520	1.00[AFR][1000 genomes]
rs7132020	1.00[AFR][1000 genomes]
rs7132292	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7133997	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs7306662	1.00[YRI][hapmap];0.89[AFR][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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 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	chr12:51159200-51192600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:51159400-51192600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:51159800-51189600	Weak transcription	Spleen	Spleen
4	chr12:51159800-51190400	Weak transcription	Fetal Kidney	kidney
5	chr12:51159800-51191200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:51160000-51189800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr12:51160000-51190800	Weak transcription	Right Ventricle	heart
8	chr12:51160200-51189600	Weak transcription	Pancreas	Pancrea
9	chr12:51160200-51189800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:51160800-51189600	Weak transcription	Brain Angular Gyrus	brain
11	chr12:51160800-51190600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:51161000-51189800	Weak transcription	Ovary	ovary
13	chr12:51164400-51189600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:51172600-51190600	Weak transcription	Fetal Brain Male	brain
15	chr12:51173000-51189600	Weak transcription	Colon Smooth Muscle	Colon
16	chr12:51173200-51190000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:51175400-51192200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:51176000-51189400	Weak transcription	Adipose Nuclei	Adipose
19	chr12:51176000-51189400	Weak transcription	Brain Hippocampus Middle	brain
20	chr12:51176200-51189600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr12:51178400-51192400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:51178600-51189800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:51178800-51192600	Weak transcription	Fetal Heart	heart
24	chr12:51179600-51189400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:51179800-51189600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:51180000-51189600	Weak transcription	Left Ventricle	heart
27	chr12:51180000-51189600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr12:51180200-51189600	Weak transcription	Small Intestine	intestine
29	chr12:51180600-51192800	Weak transcription	Esophagus	oesophagus
30	chr12:51180800-51189600	Weak transcription	Lung	lung
31	chr12:51180800-51189600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr12:51180800-51189800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:51180800-51189800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:51180800-51189800	Weak transcription	Gastric	stomach
35	chr12:51180800-51189800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr12:51180800-51190400	Weak transcription	Psoas Muscle	Psoas
37	chr12:51180800-51190800	Weak transcription	Colonic Mucosa	Colon
38	chr12:51180800-51191800	Weak transcription	Aorta	Aorta
39	chr12:51180800-51204400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr12:51181000-51189400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:51181000-51189600	Weak transcription	Liver	Liver
42	chr12:51181000-51189800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr12:51181200-51189400	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr12:51181600-51189600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:51181600-51189600	Weak transcription	HSMM	muscle
46	chr12:51181600-51190600	Weak transcription	HSMMtube	muscle
47	chr12:51181600-51192600	Weak transcription	HUVEC	blood vessel
48	chr12:51181800-51189600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr12:51181800-51189600	Weak transcription	Fetal Intestine Large	intestine
50	chr12:51181800-51190000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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