Variant report

Variant	rs7311644
Chromosome Location	chr12:4799050-4799051
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1009634	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10128935	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1024656	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10735037	0.95[ASN][1000 genomes]
rs10735038	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10849118	0.93[ASN][1000 genomes]
rs1548	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2058209	0.80[EUR][1000 genomes]
rs4147690	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4147694	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4766271	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7310700	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7313982	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7977127	0.95[ASN][1000 genomes]
rs7978162	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:118 , 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	chr12:4779600-4801800	Weak transcription	K562	blood
3	chr12:4780200-4809200	Weak transcription	Fetal Heart	heart
4	chr12:4782200-4803200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:4787800-4810800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:4788600-4804400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr12:4788800-4800800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:4789200-4799600	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr12:4789600-4799400	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr12:4789600-4800200	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr12:4789600-4800600	Strong transcription	Fetal Brain Female	brain
12	chr12:4791000-4799400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:4791000-4799600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr12:4791000-4799600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr12:4791000-4799600	Strong transcription	Dnd41	blood
16	chr12:4791200-4799400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:4791200-4799400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:4791200-4799600	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr12:4791200-4800800	Strong transcription	Duodenum Mucosa	Duodenum
20	chr12:4791200-4804000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:4791200-4806200	Strong transcription	Primary T cells from cord blood	blood
22	chr12:4791200-4806600	Strong transcription	Fetal Muscle Trunk	muscle
23	chr12:4791400-4799400	Strong transcription	Thymus	Thymus
24	chr12:4791400-4799800	Strong transcription	Primary B cells from peripheral blood	blood
25	chr12:4791400-4799800	Strong transcription	Stomach Smooth Muscle	stomach
26	chr12:4791400-4800200	Strong transcription	Fetal Muscle Leg	muscle
27	chr12:4792000-4799600	Weak transcription	NHDF-Ad	bronchial
28	chr12:4792600-4799400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr12:4792600-4809400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:4794600-4799400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:4795000-4810000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr12:4795400-4806800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:4796200-4801600	Weak transcription	HMEC	breast
34	chr12:4797000-4800400	Weak transcription	HSMMtube	muscle
35	chr12:4797000-4811000	Weak transcription	Small Intestine	intestine
36	chr12:4797200-4804400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr12:4797400-4801200	Weak transcription	Fetal Kidney	kidney
38	chr12:4797400-4803400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:4797400-4807400	Weak transcription	GM12878-XiMat	blood
40	chr12:4797400-4809800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:4797400-4809800	Weak transcription	NH-A	brain
42	chr12:4797600-4803400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:4797600-4803600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr12:4797600-4803600	Weak transcription	Lung	lung
45	chr12:4797600-4803800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr12:4797600-4805200	Weak transcription	Colonic Mucosa	Colon
47	chr12:4797600-4805400	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr12:4797600-4805600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr12:4797600-4807800	Weak transcription	Brain Substantia Nigra	brain
50	chr12:4797600-4809800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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