Variant report

Variant	rs12385913
Chromosome Location	chr14:69866838-69866839
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr14:69866528-69866839	K562	blood:	n/a	n/a
2	POLR2A	chr14:69866373-69866870	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:69658868..69661377-chr14:69866532..69868525,2	MCF-7	breast:
2	chr14:69864148..69866880-chr14:70234778..70237310,2	MCF-7	breast:
3	chr14:69865072..69867138-chr14:69919938..69922880,2	MCF-7	breast:

Variant related genes	Relation type
ERH	TF binding region
ENSG00000029364	Chromatin interaction
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1010661	0.80[CEU][hapmap]
rs10130642	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10131686	0.93[AMR][1000 genomes]
rs10132626	0.85[CHD][hapmap];0.93[LWK][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10137655	0.81[ASW][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.91[TSI][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes]
rs10137668	0.90[ASW][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.91[TSI][hapmap];0.95[YRI][hapmap];0.93[AMR][1000 genomes]
rs10142738	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10148090	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10150434	0.93[AMR][1000 genomes]
rs11158808	0.82[MEX][hapmap];0.82[TSI][hapmap]
rs11620664	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624753	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624756	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11626070	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844803	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847666	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12147167	0.93[AMR][1000 genomes]
rs12147983	0.93[AMR][1000 genomes]
rs12147999	0.93[AMR][1000 genomes]
rs12185028	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17106979	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17764155	1.00[CHD][hapmap];0.95[LWK][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1952255	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2015547	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2061087	0.82[MEX][hapmap]
rs2061088	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.84[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2168241	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28531897	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs28616724	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35286134	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs45536240	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55751520	0.93[AMR][1000 genomes]
rs57148905	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57675317	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57941356	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59116152	0.93[AMR][1000 genomes]
rs59181716	0.93[AMR][1000 genomes]
rs60238702	0.93[AMR][1000 genomes]
rs61436917	0.93[AMR][1000 genomes]
rs61564515	0.93[AMR][1000 genomes]
rs7143230	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7152301	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7155178	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161463	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs72722198	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72722199	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72723815	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72723830	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72723840	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72723847	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72723850	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72723857	0.93[AMR][1000 genomes]
rs74061833	0.89[AMR][1000 genomes]
rs8016334	0.91[ASN][1000 genomes]
rs8016618	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9630395	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12385913	ADAM21	cis	parietal	SCAN
rs12385913	GALNTL1	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69863600-69867000	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr14:69863600-69867800	Active TSS	Right Atrium	heart
3	chr14:69863600-69868200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:69863600-69869200	Active TSS	K562	blood
5	chr14:69863800-69867000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:69863800-69867200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr14:69863800-69867600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:69863800-69867800	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr14:69863800-69869000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:69864000-69867000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:69864000-69867000	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr14:69864000-69867000	Active TSS	GM12878-XiMat	blood
13	chr14:69864000-69867800	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr14:69864000-69868200	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr14:69864200-69867000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:69864200-69867000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:69864200-69867000	Active TSS	NHDF-Ad	bronchial
18	chr14:69864200-69867200	Active TSS	NHLF	lung
19	chr14:69864200-69867400	Active TSS	Fetal Intestine Large	intestine
20	chr14:69864200-69867600	Active TSS	Colonic Mucosa	Colon
21	chr14:69864200-69868000	Active TSS	H1 Cell Line	embryonic stem cell
22	chr14:69864200-69868200	Active TSS	Pancreas	Pancrea
23	chr14:69864200-69868400	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr14:69865600-69867000	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr14:69865600-69867200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr14:69865600-69867600	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr14:69865600-69868000	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr14:69865800-69867200	Flanking Active TSS	Liver	Liver
29	chr14:69865800-69867200	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr14:69865800-69867200	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr14:69865800-69867400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:69865800-69867400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr14:69865800-69867400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:69865800-69867400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr14:69865800-69867400	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr14:69865800-69867600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr14:69865800-69867600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr14:69865800-69867600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr14:69865800-69867600	Flanking Active TSS	Brain Angular Gyrus	brain
40	chr14:69865800-69867600	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr14:69865800-69867600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr14:69865800-69868000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr14:69865800-69868000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr14:69865800-69868000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr14:69865800-69868200	Flanking Active TSS	NH-A	brain
46	chr14:69865800-69868400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr14:69865800-69868800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:69865800-69868800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:69866000-69867400	Flanking Active TSS	Fetal Heart	heart
50	chr14:69866000-69867400	Flanking Active TSS	Rectal Smooth Muscle	rectum

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