Variant report

Variant	rs3817547
Chromosome Location	chr12:121882661-121882662
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:121880255-121883309	GM12878	blood:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121789115..121791658-chr12:121880840..121882827,2	MCF-7	breast:
2	chr12:121878170..121879977-chr12:121880057..121882687,2	MCF-7	breast:
3	chr12:121871998..121875196-chr12:121881488..121886297,4	K562	blood:
4	chr12:121789271..121791434-chr12:121880187..121882696,2	K562	blood:
5	chr12:121866984..121868948-chr12:121881772..121883367,2	MCF-7	breast:
6	chr12:121733765..121736569-chr12:121879944..121882685,2	MCF-7	breast:
7	chr12:121872793..121874717-chr12:121882378..121884801,2	K562	blood:
8	chr12:121881613..121883243-chr12:121887047..121889085,2	K562	blood:
9	chr12:121880609..121882704-chr12:121889247..121891009,2	K562	blood:
10	chr12:121880833..121882674-chr12:121883238..121886175,2	MCF-7	breast:
11	chr12:121788278..121791610-chr12:121879889..121884323,6	MCF-7	breast:
12	chr12:121879603..121883744-chr12:121903538..121907174,6	MCF-7	breast:
13	chr12:121880512..121882680-chr12:121974810..121977371,2	MCF-7	breast:
14	chr12:121881127..121882674-chr12:121887819..121890318,2	MCF-7	breast:
15	chr12:121881584..121884550-chr12:121902935..121904495,2	MCF-7	breast:
16	chr12:121836745..121839603-chr12:121879742..121884021,4	MCF-7	breast:
17	chr12:121837014..121839501-chr12:121881211..121882781,2	MCF-7	breast:
18	chr12:121881960..121883716-chr12:121885028..121886945,2	K562	blood:

No data

Variant related genes	Relation type
KDM2B	TF binding region
ENSG00000089053	Chromatin interaction
ENSG00000170633	Chromatin interaction
ENSG00000089094	Chromatin interaction
ENSG00000110931	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10444489	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10444491	0.85[AMR][1000 genomes]
rs10444492	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1064951	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10744763	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10744764	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10774594	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10774595	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10774596	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10774597	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10774598	0.86[AMR][1000 genomes]
rs10849873	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10849875	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10849877	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10849878	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10849879	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10849880	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10849882	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10849884	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10849885	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10849887	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10849889	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10849891	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11065549	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065551	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065563	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065565	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065575	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065576	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065577	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065578	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065579	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065582	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11065583	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11065585	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11838335	0.83[EUR][1000 genomes]
rs12427382	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12578785	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12581843	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12581861	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2288154	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3751131	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3817543	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3817544	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3817545	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3817546	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3817549	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3817551	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4081775	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57185007	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57889600	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57971979	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58609847	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58849369	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59103597	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59190874	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61953461	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61953462	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61953497	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61955092	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61955131	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61955132	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61955138	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9300314	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs951498	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9634167	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9634168	0.84[ASN][1000 genomes]

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121850400-121887400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:121851800-121891400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr12:121852200-121883200	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:121852200-121884800	Strong transcription	Primary T cells from cord blood	blood
5	chr12:121853000-121884800	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:121861400-121903600	Weak transcription	Right Atrium	heart
7	chr12:121864000-121889200	Strong transcription	Fetal Intestine Small	intestine
8	chr12:121864200-121883600	Strong transcription	Spleen	Spleen
9	chr12:121864600-121887200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:121865000-121884000	Strong transcription	Primary B cells from peripheral blood	blood
11	chr12:121867600-121890000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:121868000-121893600	Weak transcription	Psoas Muscle	Psoas
13	chr12:121869600-121886400	Weak transcription	Fetal Heart	heart
14	chr12:121872600-121883400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:121873000-121883800	Strong transcription	Liver	Liver
16	chr12:121873200-121883200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:121873400-121883200	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr12:121873600-121884400	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr12:121874000-121889600	Weak transcription	HMEC	breast
20	chr12:121874600-121882800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:121875000-121883600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr12:121875000-121883600	Strong transcription	Brain Germinal Matrix	brain
23	chr12:121875000-121884800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:121875000-121886800	Weak transcription	Fetal Brain Male	brain
25	chr12:121875200-121883800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:121875200-121885000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr12:121875200-121889800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:121875200-121889800	Weak transcription	HUVEC	blood vessel
29	chr12:121875400-121884400	Strong transcription	Fetal Brain Female	brain
30	chr12:121875600-121883400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:121875600-121883400	Strong transcription	Thymus	Thymus
32	chr12:121875600-121883600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:121875600-121883800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:121875600-121883800	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:121875600-121884400	Strong transcription	Dnd41	blood
36	chr12:121875600-121889200	Strong transcription	Fetal Thymus	thymus
37	chr12:121876200-121883200	Strong transcription	NHLF	lung
38	chr12:121876200-121883600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr12:121876400-121884400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:121876600-121883400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:121876600-121883600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr12:121876600-121883600	Strong transcription	GM12878-XiMat	blood
43	chr12:121876800-121883000	Strong transcription	Right Ventricle	heart
44	chr12:121876800-121887400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr12:121877800-121889800	Weak transcription	NHDF-Ad	bronchial
46	chr12:121878200-121886400	Weak transcription	HSMM	muscle
47	chr12:121878400-121882800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:121878600-121888800	Weak transcription	K562	blood
49	chr12:121878600-121889000	Weak transcription	Fetal Kidney	kidney
50	chr12:121879000-121885400	Weak transcription	NH-A	brain

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