Variant report

Variant	rs2067902
Chromosome Location	chr12:51597909-51597910
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51597757..51600269-chr12:51632271..51633974,2	MCF-7	breast:
2	chr12:51475917..51477628-chr12:51596948..51599509,2	MCF-7	breast:
3	chr12:51596681..51599666-chr12:51600800..51605686,4	MCF-7	breast:
4	chr12:51595711..51598749-chr12:51608220..51613018,6	K562	blood:
5	chr12:51476941..51478857-chr12:51596013..51598733,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184271	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000183283	Chromatin interaction

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

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

rs_ID	r²[population]
rs10431487	0.91[EUR][1000 genomes]
rs10735832	0.88[EUR][1000 genomes]
rs11169761	0.82[EUR][1000 genomes]
rs6580808	0.90[EUR][1000 genomes]
rs7975737	0.82[EUR][1000 genomes]
rs7976292	0.83[EUR][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	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
2	nsv558876	chr12:51591367-51612730	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51567400-51610600	Weak transcription	Right Atrium	heart
2	chr12:51581400-51600400	Weak transcription	Psoas Muscle	Psoas
3	chr12:51581400-51610200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:51581800-51610600	Weak transcription	Colonic Mucosa	Colon
5	chr12:51582200-51608000	Weak transcription	NHLF	lung
6	chr12:51582400-51600000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:51582400-51600600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:51583400-51602400	Weak transcription	Fetal Brain Male	brain
9	chr12:51583600-51598400	Weak transcription	Osteobl	bone
10	chr12:51584400-51610800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:51585000-51610200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:51585000-51610800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:51585400-51610200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:51585800-51601400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr12:51585800-51610400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:51586000-51610200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr12:51586400-51610200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr12:51590800-51610400	Weak transcription	HSMMtube	muscle
19	chr12:51592200-51602400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:51592400-51599200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:51592400-51599200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:51592400-51610200	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:51592400-51610600	Weak transcription	Pancreas	Pancrea
24	chr12:51592400-51610800	Weak transcription	Esophagus	oesophagus
25	chr12:51592800-51610200	Weak transcription	Right Ventricle	heart
26	chr12:51592800-51610400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:51593200-51610200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:51593600-51601200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr12:51594000-51598800	Weak transcription	Brain Angular Gyrus	brain
30	chr12:51594200-51601200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:51594400-51610400	Weak transcription	Liver	Liver
32	chr12:51595200-51598000	Enhancers	Primary T cells fromperipheralblood	blood
33	chr12:51595200-51610800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:51595600-51610400	Weak transcription	NH-A	brain
35	chr12:51595800-51598000	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr12:51596000-51599400	Strong transcription	Fetal Stomach	stomach
37	chr12:51596000-51610200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr12:51596400-51598000	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr12:51596400-51598000	Strong transcription	Fetal Muscle Trunk	muscle
40	chr12:51596400-51598200	Strong transcription	Brain Anterior Caudate	brain
41	chr12:51596600-51598000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr12:51596600-51598600	Strong transcription	Brain Germinal Matrix	brain
43	chr12:51596600-51598600	Strong transcription	Fetal Brain Female	brain
44	chr12:51596600-51598800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:51596600-51604200	Weak transcription	Small Intestine	intestine
46	chr12:51596800-51598000	Strong transcription	Brain Hippocampus Middle	brain
47	chr12:51596800-51598000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:51596800-51598200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:51596800-51598200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:51596800-51598200	Strong transcription	Skeletal Muscle Male	skeletal muscle

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