Variant report

Variant	rs7969935
Chromosome Location	chr12:4801393-4801394
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:4784787..4786680-chr12:4800510..4802505,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1029767	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774257	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10774258	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10849120	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11063304	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2074984	0.97[ASN][1000 genomes]
rs2240760	0.90[ASN][1000 genomes]
rs2267551	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2359252	0.97[ASN][1000 genomes]
rs4147691	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4147693	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4147695	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4766270	0.87[ASN][1000 genomes]
rs6489561	0.85[ASN][1000 genomes]
rs7137714	0.83[ASN][1000 genomes]
rs7311259	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312558	0.97[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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4779600-4801800	Weak transcription	K562	blood
2	chr12:4780200-4809200	Weak transcription	Fetal Heart	heart
3	chr12:4782200-4803200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:4787800-4810800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:4788600-4804400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr12:4791200-4804000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:4791200-4806200	Strong transcription	Primary T cells from cord blood	blood
8	chr12:4791200-4806600	Strong transcription	Fetal Muscle Trunk	muscle
9	chr12:4792600-4809400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:4795000-4810000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:4795400-4806800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:4796200-4801600	Weak transcription	HMEC	breast
13	chr12:4797000-4811000	Weak transcription	Small Intestine	intestine
14	chr12:4797200-4804400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:4797400-4803400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:4797400-4807400	Weak transcription	GM12878-XiMat	blood
17	chr12:4797400-4809800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:4797400-4809800	Weak transcription	NH-A	brain
19	chr12:4797600-4803400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:4797600-4803600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:4797600-4803600	Weak transcription	Lung	lung
22	chr12:4797600-4803800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr12:4797600-4805200	Weak transcription	Colonic Mucosa	Colon
24	chr12:4797600-4805400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr12:4797600-4805600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr12:4797600-4807800	Weak transcription	Brain Substantia Nigra	brain
27	chr12:4797600-4809800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:4797600-4809800	Weak transcription	Gastric	stomach
29	chr12:4797600-4809800	Weak transcription	Right Ventricle	heart
30	chr12:4797600-4809800	Weak transcription	NHLF	lung
31	chr12:4797600-4810000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:4797600-4810800	Weak transcription	HepG2	liver
33	chr12:4797800-4802400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:4797800-4803000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr12:4797800-4803800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:4797800-4804200	Weak transcription	Esophagus	oesophagus
37	chr12:4797800-4805800	Weak transcription	Brain Hippocampus Middle	brain
38	chr12:4797800-4809600	Weak transcription	Fetal Brain Male	brain
39	chr12:4797800-4809800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr12:4797800-4809800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr12:4797800-4810200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr12:4797800-4810600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr12:4798000-4802400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr12:4798000-4802600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:4798000-4803600	Weak transcription	Left Ventricle	heart
46	chr12:4798000-4808000	Weak transcription	Psoas Muscle	Psoas
47	chr12:4798000-4809200	Weak transcription	Colon Smooth Muscle	Colon
48	chr12:4798000-4809600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:4798000-4809800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:4798000-4809800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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