Variant report

Variant	rs7306593
Chromosome Location	chr12:4774407-4774408
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11063307	1.00[ASN][1000 genomes]
rs12809178	1.00[ASN][1000 genomes]
rs12816272	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12817218	1.00[ASN][1000 genomes]
rs12821116	1.00[ASN][1000 genomes]
rs12827952	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12831221	1.00[ASN][1000 genomes]
rs16931649	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17701871	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286579	1.00[ASN][1000 genomes]
rs34205979	1.00[ASN][1000 genomes]
rs34214125	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34337517	1.00[ASN][1000 genomes]
rs34475613	1.00[ASN][1000 genomes]
rs34502100	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34765166	1.00[ASN][1000 genomes]
rs34947765	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34952740	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35016874	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35288424	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35464779	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35562639	1.00[ASN][1000 genomes]
rs35878255	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35899818	1.00[ASN][1000 genomes]
rs35925396	1.00[ASN][1000 genomes]
rs4766273	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5007510	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55760751	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59096706	1.00[ASN][1000 genomes]
rs59986414	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66703365	1.00[ASN][1000 genomes]
rs67871557	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68144469	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71459918	1.00[ASN][1000 genomes]
rs73038876	1.00[ASN][1000 genomes]
rs960763	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1036308	chr12:4748657-4804156	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3362685	chr12:4770868-4776681	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4759000-4799400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:4759200-4776200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:4760800-4782400	Strong transcription	Primary T cells from cord blood	blood
4	chr12:4761800-4782200	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr12:4762200-4779800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:4762200-4783600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:4762600-4779600	Strong transcription	Primary hematopoietic stem cells	blood
8	chr12:4762600-4780000	Strong transcription	Fetal Muscle Leg	muscle
9	chr12:4762600-4782800	Strong transcription	Adipose Nuclei	Adipose
10	chr12:4762800-4779800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:4762800-4781000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:4762800-4782000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr12:4763000-4774800	Strong transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:4763000-4775600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:4763000-4780400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:4763000-4782200	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:4763000-4782400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr12:4763000-4782400	Strong transcription	Placenta	Placenta
19	chr12:4763000-4783000	Strong transcription	Duodenum Mucosa	Duodenum
20	chr12:4763200-4782200	Strong transcription	Primary B cells from peripheral blood	blood
21	chr12:4763400-4774600	Strong transcription	HepG2	liver
22	chr12:4763400-4774800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
23	chr12:4763400-4774800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:4763400-4774800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr12:4763400-4774800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr12:4763400-4775200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:4763400-4775200	Strong transcription	A549	lung
28	chr12:4763400-4775400	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr12:4763400-4775600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr12:4763400-4779200	Strong transcription	Brain Germinal Matrix	brain
31	chr12:4763400-4779600	Strong transcription	Fetal Muscle Trunk	muscle
32	chr12:4763400-4779800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:4763400-4780400	Strong transcription	Fetal Thymus	thymus
34	chr12:4763400-4781200	Strong transcription	GM12878-XiMat	blood
35	chr12:4763400-4781200	Strong transcription	NH-A	brain
36	chr12:4763400-4781400	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:4763400-4781600	Strong transcription	Brain Anterior Caudate	brain
38	chr12:4763400-4781600	Strong transcription	Dnd41	blood
39	chr12:4763400-4782000	Strong transcription	Fetal Kidney	kidney
40	chr12:4763400-4782200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr12:4763400-4782200	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr12:4763400-4782200	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:4763400-4782200	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr12:4763400-4782400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr12:4763400-4782400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr12:4763400-4782400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr12:4763400-4782600	Strong transcription	Liver	Liver
48	chr12:4763400-4782600	Strong transcription	Fetal Intestine Large	intestine
49	chr12:4763400-4782800	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr12:4763400-4782800	Strong transcription	Rectal Mucosa Donor 29	rectum

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