Variant report

Variant	rs12322924
Chromosome Location	chr12:51620393-51620394
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51610491..51614628-chr12:51614796..51620409,6	K562	blood:
2	chr12:51610404..51614741-chr12:51616630..51621489,9	K562	blood:
3	chr12:51620289..51623485-chr12:51630590..51634514,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183283	Chromatin interaction
ENSG00000184271	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4761804	0.89[EUR][1000 genomes]
rs7316433	0.89[EUR][1000 genomes]
rs7316812	0.85[EUR][1000 genomes]
rs7484634	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][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	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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51612800-51621000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:51612800-51622200	Weak transcription	Lung	lung
3	chr12:51612800-51622800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:51613000-51621200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr12:51613000-51621200	Weak transcription	Fetal Stomach	stomach
6	chr12:51613000-51631800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:51613400-51621600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:51613400-51622400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:51613400-51631600	Weak transcription	Thymus	Thymus
10	chr12:51613400-51631800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:51613400-51631800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:51613400-51632000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:51613600-51631800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:51613600-51631800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:51613600-51631800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:51613800-51623600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:51614200-51622200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr12:51614200-51631600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr12:51616400-51631600	Weak transcription	Gastric	stomach
20	chr12:51616800-51625000	Weak transcription	Ovary	ovary
21	chr12:51616800-51631800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr12:51618600-51621000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:51618600-51621200	Enhancers	Fetal Brain Male	brain
24	chr12:51619400-51631800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr12:51619600-51620400	Enhancers	Brain Germinal Matrix	brain
26	chr12:51619600-51622600	Weak transcription	Fetal Muscle Leg	muscle
27	chr12:51619600-51622800	Weak transcription	Brain Substantia Nigra	brain
28	chr12:51619600-51631800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:51620000-51620400	Enhancers	Fetal Brain Female	brain
30	chr12:51620000-51622600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:51620000-51623000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr12:51620000-51631800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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