Variant report

Variant	rs11729285
Chromosome Location	chr4:99802395-99802396
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	chr4:99800676..99802842-chr4:99806350..99809597,3	K562	blood:
2	chr4:99801164..99805470-chr4:99915140..99918269,3	K562	blood:

Variant related genes	Relation type
ENSG00000164024	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10004975	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10023577	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10433890	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097640	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11725932	0.87[EUR][1000 genomes]
rs12498533	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12644580	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17028293	0.84[EUR][1000 genomes]
rs2100426	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28494580	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28577966	0.86[EUR][1000 genomes]
rs28613604	0.81[EUR][1000 genomes]
rs2924581	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34830689	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35447189	0.83[EUR][1000 genomes]
rs4264834	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4699688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699693	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6810489	0.82[EUR][1000 genomes]
rs6811070	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6830125	0.87[EUR][1000 genomes]
rs6852715	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7660937	0.83[EUR][1000 genomes]
rs7661487	0.84[EUR][1000 genomes]
rs7664964	0.86[EUR][1000 genomes]
rs7665587	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7665590	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7674319	0.81[EUR][1000 genomes]
rs7696573	0.80[EUR][1000 genomes]
rs7696584	0.80[EUR][1000 genomes]
rs7697071	0.80[EUR][1000 genomes]
rs9332467	0.81[EUR][1000 genomes]
rs9996959	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv879654	chr4:99748988-99877402	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv879655	chr4:99783733-99843113	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv966299	chr4:99800355-99802425	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99790800-99805400	Weak transcription	Fetal Lung	lung
2	chr4:99792400-99825000	Weak transcription	Gastric	stomach
3	chr4:99792600-99804000	Weak transcription	HUVEC	blood vessel
4	chr4:99793400-99803000	Weak transcription	Stomach Mucosa	stomach
5	chr4:99794400-99802600	Weak transcription	NHLF	lung
6	chr4:99794600-99802800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:99794600-99802800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:99794600-99804800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:99794600-99805600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:99794600-99805600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr4:99794800-99802600	Weak transcription	NHEK	skin
12	chr4:99795000-99807000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr4:99795600-99804000	Weak transcription	Fetal Stomach	stomach
14	chr4:99795800-99804200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:99795800-99804800	Weak transcription	Left Ventricle	heart
16	chr4:99795800-99805000	Weak transcription	GM12878-XiMat	blood
17	chr4:99795800-99806400	Weak transcription	Thymus	Thymus
18	chr4:99796000-99805400	Weak transcription	Fetal Brain Female	brain
19	chr4:99796000-99826400	Weak transcription	Right Ventricle	heart
20	chr4:99796200-99804200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr4:99796200-99804200	Weak transcription	Lung	lung
22	chr4:99796400-99802800	Weak transcription	Fetal Intestine Large	intestine
23	chr4:99796400-99804200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr4:99796400-99804800	Weak transcription	Primary T cells from cord blood	blood
25	chr4:99796400-99804800	Weak transcription	Small Intestine	intestine
26	chr4:99796400-99805000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr4:99796600-99806800	Weak transcription	HSMMtube	muscle
28	chr4:99796600-99807600	Weak transcription	Brain Germinal Matrix	brain
29	chr4:99796800-99814400	Weak transcription	Fetal Brain Male	brain
30	chr4:99797000-99802600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr4:99797000-99807200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:99797000-99826600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr4:99797200-99802600	Weak transcription	Fetal Kidney	kidney
34	chr4:99797200-99803000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr4:99797200-99806800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr4:99797400-99802600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr4:99797400-99805600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr4:99797400-99813400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:99797400-99813400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr4:99797400-99815200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:99797600-99802800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr4:99798000-99806400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:99798400-99823000	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr4:99798600-99804200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr4:99798600-99824400	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr4:99798800-99802400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr4:99798800-99802600	Weak transcription	Fetal Thymus	thymus
48	chr4:99798800-99802800	Weak transcription	HepG2	liver
49	chr4:99798800-99805400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr4:99799000-99805000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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