Variant report

Variant	rs11941024
Chromosome Location	chr4:129959098-129959099
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	chr4:129957878..129959875-chr4:129966439..129968014,2	K562	blood:
2	chr4:129958375..129960190-chr4:129966439..129968736,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11931573	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11934229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11934548	1.00[AMR][1000 genomes]
rs11936163	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11936845	0.94[AFR][1000 genomes]
rs11938587	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11940367	1.00[AFR][1000 genomes]
rs11940774	1.00[AMR][1000 genomes]
rs11941212	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11943061	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11943407	1.00[AMR][1000 genomes]
rs11945943	0.94[AFR][1000 genomes]
rs11947306	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1030513	chr4:129770961-129965026	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv522694	chr4:129862073-129994690	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv879931	chr4:129939775-130178102	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129937200-129964000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:129943200-129960200	Weak transcription	Primary B cells from cord blood	blood
3	chr4:129944400-129961000	Weak transcription	Primary T cells from cord blood	blood
4	chr4:129944600-129962800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr4:129944800-129965400	Weak transcription	Ovary	ovary
6	chr4:129945600-129981800	Weak transcription	Thymus	Thymus
7	chr4:129951200-129962400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr4:129951200-129967200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr4:129951400-129976200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:129953400-129962600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:129953600-129965600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr4:129953600-129965600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:129954200-129959600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr4:129954800-129964400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr4:129955000-129960200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr4:129955000-129965200	Weak transcription	K562	blood
17	chr4:129955200-129961000	Weak transcription	GM12878-XiMat	blood
18	chr4:129956000-129962600	Weak transcription	HMEC	breast
19	chr4:129956400-129962200	Weak transcription	Fetal Lung	lung
20	chr4:129956600-129962400	Weak transcription	Left Ventricle	heart
21	chr4:129956800-129960800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr4:129956800-129960800	Weak transcription	HSMM	muscle
23	chr4:129956800-129962600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:129956800-129962600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr4:129957000-129963800	Weak transcription	Lung	lung
26	chr4:129957000-129965400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr4:129957400-129964400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:129957400-129964800	Weak transcription	Fetal Stomach	stomach
29	chr4:129958000-129961200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:129958400-129959200	Strong transcription	Dnd41	blood
31	chr4:129958400-129961600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:129958400-129964800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:129958600-129961600	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr4:129958600-129961600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:129958600-129963000	Weak transcription	Psoas Muscle	Psoas
36	chr4:129958800-129961400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:129958800-129965400	Weak transcription	Adipose Nuclei	Adipose
38	chr4:129958800-129965400	Weak transcription	Liver	Liver
39	chr4:129958800-129966400	Weak transcription	Fetal Thymus	thymus

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