Variant report

Variant	rs56211927
Chromosome Location	chr4:111009388-111009389
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:111008440..111011561-chr4:111115460..111119101,3	K562	blood:
2	chr4:111008615..111010206-chr4:111112826..111114472,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11723239	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11726328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11726743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11726880	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11726901	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11731035	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17041360	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34415611	0.88[AFR][1000 genomes]
rs56217731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56338714	0.88[AFR][1000 genomes]
rs56396763	0.88[AFR][1000 genomes]
rs57076108	0.96[EUR][1000 genomes]
rs62325352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72679203	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869392	chr4:110945459-111235071	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110986200-111009400	Weak transcription	NHLF	lung
2	chr4:110992400-111010000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:110993200-111015400	Weak transcription	Psoas Muscle	Psoas
4	chr4:110995000-111018600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:111004400-111009600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:111004400-111009600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:111004600-111026000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:111004600-111027800	Weak transcription	Esophagus	oesophagus
9	chr4:111004800-111009800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr4:111006000-111009600	Enhancers	Fetal Intestine Small	intestine
11	chr4:111006000-111010200	Enhancers	Small Intestine	intestine
12	chr4:111006000-111011400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr4:111006000-111013200	Enhancers	Dnd41	blood
14	chr4:111006000-111014000	Enhancers	HMEC	breast
15	chr4:111006200-111009600	Enhancers	HUVEC	blood vessel
16	chr4:111006200-111009800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:111006200-111012200	Enhancers	NHEK	skin
18	chr4:111006200-111012400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:111006200-111012400	Enhancers	Osteobl	bone
20	chr4:111006200-111012600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:111006400-111009400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr4:111006400-111010600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr4:111006400-111013000	Weak transcription	Fetal Kidney	kidney
24	chr4:111006600-111009600	Weak transcription	GM12878-XiMat	blood
25	chr4:111006600-111009800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:111006600-111012200	Enhancers	NHDF-Ad	bronchial
27	chr4:111006600-111026000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:111006800-111009800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr4:111006800-111012600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:111006800-111014200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:111006800-111025800	Weak transcription	Liver	Liver
32	chr4:111007000-111009600	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr4:111007000-111010000	Weak transcription	Primary T cells from cord blood	blood
34	chr4:111007000-111010000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr4:111007000-111010200	Enhancers	Brain Germinal Matrix	brain
36	chr4:111007000-111011600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr4:111007400-111009400	Weak transcription	K562	blood
38	chr4:111007400-111010400	Enhancers	NH-A	brain
39	chr4:111007800-111009800	Enhancers	Brain Hippocampus Middle	brain
40	chr4:111007800-111011000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:111008000-111009600	Enhancers	Brain Substantia Nigra	brain
42	chr4:111008000-111010000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr4:111008000-111010200	Enhancers	Brain Angular Gyrus	brain
44	chr4:111008000-111011000	Enhancers	HSMMtube	muscle
45	chr4:111008200-111009400	Enhancers	Brain Anterior Caudate	brain
46	chr4:111008200-111009400	Enhancers	A549	lung
47	chr4:111008200-111009800	Enhancers	Fetal Heart	heart
48	chr4:111008200-111010000	Enhancers	Fetal Muscle Leg	muscle
49	chr4:111008200-111010800	Enhancers	HSMM	muscle
50	chr4:111008400-111009400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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