Variant report

Variant	rs7311832
Chromosome Location	chr12:51618856-51618857
allele	A/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	chr12:51440642..51443592-chr12:51616961..51619958,3	MCF-7	breast:
3	chr12:51610404..51614741-chr12:51616630..51621489,9	K562	blood:

Variant related genes	Relation type
ENSG00000050426	Chromatin interaction
ENSG00000184271	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1049467	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10735833	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10747608	0.80[GIH][hapmap]
rs10783420	0.80[CHD][hapmap];1.00[JPT][hapmap]
rs10783424	0.88[CEU][hapmap];0.83[GIH][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs4077093	0.82[JPT][hapmap]
rs6580806	0.80[CHD][hapmap];0.82[JPT][hapmap]
rs6580813	0.86[EUR][1000 genomes]
rs6580815	0.80[EUR][1000 genomes]
rs7308873	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7312011	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7397479	1.00[CEU][hapmap];0.94[GIH][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.99[EUR][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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7311832	ELA1	cis	multi-tissue	Pritchard
rs7311832	SPATS2	cis	cerebellum	SCAN
rs7311832	C12orf54	cis	cerebellum	SCAN
rs7311832	ITGB7	cis	parietal	SCAN
rs7311832	SPATS2	cis	parietal	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51612800-51619800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:51612800-51621000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:51612800-51622200	Weak transcription	Lung	lung
4	chr12:51612800-51622800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:51613000-51619000	Weak transcription	Fetal Brain Female	brain
6	chr12:51613000-51619200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:51613000-51619200	Weak transcription	Brain Angular Gyrus	brain
8	chr12:51613000-51621200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr12:51613000-51621200	Weak transcription	Fetal Stomach	stomach
10	chr12:51613000-51631800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:51613400-51621600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:51613400-51622400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:51613400-51631600	Weak transcription	Thymus	Thymus
14	chr12:51613400-51631800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:51613400-51631800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:51613400-51632000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:51613600-51620000	Weak transcription	Fetal Intestine Small	intestine
18	chr12:51613600-51631800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:51613600-51631800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr12:51613600-51631800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:51613800-51619200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:51613800-51623600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:51614200-51622200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr12:51614200-51631600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr12:51616400-51619000	Weak transcription	Brain Substantia Nigra	brain
26	chr12:51616400-51631600	Weak transcription	Gastric	stomach
27	chr12:51616600-51619000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr12:51616600-51619200	Weak transcription	Brain Anterior Caudate	brain
29	chr12:51616600-51619200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr12:51616800-51625000	Weak transcription	Ovary	ovary
31	chr12:51616800-51631800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:51618600-51619400	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr12:51618600-51619600	Strong transcription	Fetal Muscle Leg	muscle
34	chr12:51618600-51621000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:51618600-51621200	Enhancers	Fetal Brain Male	brain
36	chr12:51618800-51619200	Enhancers	Brain Germinal Matrix	brain
37	chr12:51618800-51619600	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr12:51618800-51620000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr12:51618800-51620000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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