Variant report

Variant	rs13109966
Chromosome Location	chr4:119674951-119674952
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119672125..119675106-chr4:119676573..119679208,2	K562	blood:
2	chr4:119668733..119670600-chr4:119673523..119675124,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10011672	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10014208	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10470914	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10518322	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10518323	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10518324	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11098449	0.95[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11098450	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11722833	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11730993	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11736024	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12500272	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12505513	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12506295	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12506576	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12509236	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12509654	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12649666	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13109947	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13114964	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13120798	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13128195	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13130107	0.81[EUR][1000 genomes]
rs17050423	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs298976	0.81[EUR][1000 genomes]
rs298977	0.81[EUR][1000 genomes]
rs298980	0.81[EUR][1000 genomes]
rs298981	0.81[EUR][1000 genomes]
rs298989	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs298990	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs298993	0.82[EUR][1000 genomes]
rs298997	0.81[EUR][1000 genomes]
rs299002	0.80[EUR][1000 genomes]
rs299003	0.80[EUR][1000 genomes]
rs299004	0.80[EUR][1000 genomes]
rs34371874	0.81[EUR][1000 genomes]
rs34384498	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34616305	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34730066	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35868882	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3775836	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs399086	0.80[EUR][1000 genomes]
rs428409	0.81[EUR][1000 genomes]
rs437027	0.81[EUR][1000 genomes]
rs439159	0.80[EUR][1000 genomes]
rs4834698	0.81[EUR][1000 genomes]
rs4834699	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58450672	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs67175714	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7676832	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs960739	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9997799	0.80[AMR][1000 genomes];0.98[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	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119607800-119693800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:119625800-119718000	Weak transcription	Hela-S3	cervix
3	chr4:119640800-119692600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr4:119641600-119679800	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr4:119649200-119675200	Weak transcription	Brain Substantia Nigra	brain
6	chr4:119649200-119687600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:119649200-119693600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr4:119651800-119687400	Weak transcription	Thymus	Thymus
9	chr4:119654400-119687400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:119654800-119676000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:119659600-119690400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:119660400-119688200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:119660400-119689800	Weak transcription	Brain Angular Gyrus	brain
14	chr4:119661800-119684600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr4:119662000-119677400	Weak transcription	Fetal Kidney	kidney
16	chr4:119662000-119687600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr4:119662000-119694400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr4:119663600-119675000	Weak transcription	Aorta	Aorta
19	chr4:119665200-119675000	Weak transcription	Fetal Brain Male	brain
20	chr4:119665200-119687600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr4:119665600-119675200	Weak transcription	Small Intestine	intestine
22	chr4:119665600-119678000	Weak transcription	Esophagus	oesophagus
23	chr4:119665800-119687400	Weak transcription	Spleen	Spleen
24	chr4:119667200-119675000	Strong transcription	Placenta	Placenta
25	chr4:119668000-119683600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:119668000-119689800	Weak transcription	Brain Germinal Matrix	brain
27	chr4:119668200-119675400	Weak transcription	Psoas Muscle	Psoas
28	chr4:119668200-119675400	Weak transcription	Right Ventricle	heart
29	chr4:119668200-119678200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:119668200-119684000	Weak transcription	K562	blood
31	chr4:119668200-119690200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:119668400-119678400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr4:119669400-119677000	Weak transcription	Fetal Intestine Small	intestine
34	chr4:119669400-119679000	Strong transcription	GM12878-XiMat	blood
35	chr4:119669800-119676000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr4:119669800-119676000	Strong transcription	HepG2	liver
37	chr4:119669800-119676400	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr4:119670000-119675400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr4:119671000-119675200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr4:119671000-119675400	Weak transcription	Right Atrium	heart
41	chr4:119671200-119675400	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr4:119671400-119682800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr4:119672000-119678200	Weak transcription	HMEC	breast
44	chr4:119672400-119676200	Genic enhancers	Osteobl	bone
45	chr4:119672400-119680400	Genic enhancers	NHDF-Ad	bronchial
46	chr4:119672600-119675400	Genic enhancers	NH-A	brain
47	chr4:119672800-119675200	Genic enhancers	HUVEC	blood vessel
48	chr4:119672800-119681200	Enhancers	Rectal Smooth Muscle	rectum
49	chr4:119672800-119681400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:119673000-119675000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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