Variant report

Variant	rs12300243
Chromosome Location	chr12:51397103-51397104
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51396990..51399929-chr12:51402029..51404417,2	K562	blood:
2	chr12:51395457..51398981-chr12:51402269..51404576,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110911	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10082938	1.00[AFR][1000 genomes]
rs12305773	1.00[AFR][1000 genomes]
rs12308794	1.00[AFR][1000 genomes]
rs12311435	1.00[AFR][1000 genomes]
rs12315724	1.00[AFR][1000 genomes]
rs12320527	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51378000-51401800	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr12:51378600-51399000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:51380200-51401800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr12:51380200-51402200	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr12:51380600-51399600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:51381200-51402200	Strong transcription	Fetal Thymus	thymus
7	chr12:51381200-51402200	Weak transcription	Psoas Muscle	Psoas
8	chr12:51381200-51402400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr12:51381200-51403000	Strong transcription	Fetal Muscle Leg	muscle
10	chr12:51381400-51403000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:51381800-51401600	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:51381800-51401600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:51381800-51402400	Strong transcription	Liver	Liver
14	chr12:51382000-51402000	Strong transcription	Fetal Stomach	stomach
15	chr12:51382000-51402200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:51382400-51399400	Strong transcription	Fetal Intestine Large	intestine
17	chr12:51382600-51399400	Strong transcription	Fetal Intestine Small	intestine
18	chr12:51385600-51402600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:51386000-51406600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:51386000-51414200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr12:51386200-51398800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:51386800-51402200	Weak transcription	Right Atrium	heart
23	chr12:51388000-51401000	Strong transcription	Primary T cells from cord blood	blood
24	chr12:51388200-51402000	Strong transcription	Adipose Nuclei	Adipose
25	chr12:51388600-51406600	Weak transcription	Small Intestine	intestine
26	chr12:51389400-51405400	Weak transcription	Esophagus	oesophagus
27	chr12:51390000-51400400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:51390000-51405800	Weak transcription	Stomach Mucosa	stomach
29	chr12:51390200-51398200	Weak transcription	Colonic Mucosa	Colon
30	chr12:51390600-51397600	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr12:51390800-51397800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr12:51390800-51398200	Weak transcription	HSMMtube	muscle
33	chr12:51390800-51398200	Weak transcription	HUVEC	blood vessel
34	chr12:51390800-51398400	Weak transcription	Right Ventricle	heart
35	chr12:51390800-51398600	Weak transcription	Fetal Heart	heart
36	chr12:51390800-51402800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:51391000-51398000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:51391000-51398200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr12:51391000-51398200	Weak transcription	NHLF	lung
40	chr12:51391000-51402200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr12:51391200-51398200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:51391200-51398200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:51391200-51398400	Weak transcription	Spleen	Spleen
44	chr12:51391200-51398600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:51391400-51399600	Weak transcription	Pancreas	Pancrea
46	chr12:51392400-51401800	Strong transcription	Thymus	Thymus
47	chr12:51392600-51402400	Strong transcription	Duodenum Mucosa	Duodenum
48	chr12:51393000-51402000	Strong transcription	Fetal Muscle Trunk	muscle
49	chr12:51393400-51397600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:51393400-51398400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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