Variant report

Variant	rs11728731
Chromosome Location	chr4:16260060-16260061
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:16253246..16254750-chr4:16258404..16261175,2	K562	blood:
2	chr4:16258640..16260295-chr4:16352186..16354704,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11735246	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17559158	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2041541	0.83[EUR][1000 genomes]
rs2312941	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3846353	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3846354	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs41459449	0.82[AMR][1000 genomes]
rs55863436	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6449220	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73118055	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7668272	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7677927	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7681211	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7695512	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7696623	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7698003	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[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	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537047	chr4:16182060-16375787	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv537048	chr4:16226406-16375787	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16234200-16264800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:16234400-16261600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr4:16235400-16272800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:16235600-16261600	Weak transcription	Fetal Kidney	kidney
5	chr4:16238200-16266000	Weak transcription	Fetal Brain Male	brain
6	chr4:16240400-16263400	Weak transcription	Fetal Thymus	thymus
7	chr4:16242200-16267800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr4:16244000-16265000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr4:16245000-16261200	Weak transcription	Spleen	Spleen
10	chr4:16245600-16266000	Weak transcription	Brain Angular Gyrus	brain
11	chr4:16246000-16261400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:16249600-16261200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:16251800-16264400	Weak transcription	Fetal Brain Female	brain
14	chr4:16252000-16260400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr4:16252800-16266600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:16252800-16267400	Weak transcription	Pancreas	Pancrea
17	chr4:16254800-16268800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr4:16255200-16261000	Weak transcription	Brain Anterior Caudate	brain
19	chr4:16256200-16260600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:16256200-16261200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:16256200-16261600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:16256200-16270800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:16256400-16261400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:16256400-16266400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:16256400-16270600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr4:16256600-16260800	Weak transcription	NHLF	lung
27	chr4:16258200-16278600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:16258400-16261400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr4:16258400-16263400	Weak transcription	Ovary	ovary
30	chr4:16258400-16267400	Weak transcription	Gastric	stomach
31	chr4:16258400-16268000	Weak transcription	Esophagus	oesophagus
32	chr4:16258400-16268000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr4:16258400-16270600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr4:16258400-16271200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:16258600-16261000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr4:16258600-16263000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:16258600-16264400	Weak transcription	Left Ventricle	heart
38	chr4:16258600-16267400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr4:16258600-16268800	Weak transcription	Brain Hippocampus Middle	brain
40	chr4:16258600-16270600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr4:16258600-16272000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr4:16258800-16261200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr4:16258800-16262600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr4:16258800-16267400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr4:16258800-16267400	Weak transcription	Fetal Intestine Small	intestine
46	chr4:16258800-16268000	Weak transcription	Fetal Stomach	stomach
47	chr4:16259000-16271000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr4:16259200-16263800	Weak transcription	Primary T cells from cord blood	blood
49	chr4:16259200-16264600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:16259200-16266200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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