Variant report

Variant	rs11735246
Chromosome Location	chr4:16246356-16246357
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:16227973..16229847-chr4:16246284..16248667,2	K562	blood:
2	chr4:16239179..16242051-chr4:16245019..16247959,3	K562	blood:
3	chr4:16235269..16243012-chr4:16245014..16252154,9	K562	blood:

Variant related genes	Relation type
ENSG00000169762	Chromatin interaction
ENSG00000263327	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11728731	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17559158	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2312941	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3846353	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3846354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41459449	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.82[TSI][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55863436	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6449220	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73118055	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7668272	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7677927	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7681211	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7695512	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7696623	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7698003	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.98[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16229600-16254000	Weak transcription	Ovary	ovary
2	chr4:16229600-16254800	Weak transcription	Psoas Muscle	Psoas
3	chr4:16229800-16259800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:16234000-16252000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:16234000-16252400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr4:16234000-16255000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:16234200-16254400	Weak transcription	NHDF-Ad	bronchial
8	chr4:16234200-16257400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr4:16234200-16264800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:16234400-16247200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr4:16234400-16247800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:16234400-16247800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:16234400-16252200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:16234400-16261600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr4:16234600-16246600	Weak transcription	Adipose Nuclei	Adipose
16	chr4:16234800-16253800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr4:16235000-16252200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:16235400-16272800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr4:16235600-16247200	Weak transcription	Brain Anterior Caudate	brain
20	chr4:16235600-16261600	Weak transcription	Fetal Kidney	kidney
21	chr4:16236200-16252400	Weak transcription	Right Ventricle	heart
22	chr4:16236200-16257400	Weak transcription	Left Ventricle	heart
23	chr4:16237200-16257400	Weak transcription	Brain Hippocampus Middle	brain
24	chr4:16237600-16254800	Weak transcription	Brain Substantia Nigra	brain
25	chr4:16238200-16258800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr4:16238200-16266000	Weak transcription	Fetal Brain Male	brain
27	chr4:16238400-16258400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:16240000-16259800	Weak transcription	Fetal Lung	lung
29	chr4:16240200-16246600	Weak transcription	Fetal Intestine Small	intestine
30	chr4:16240400-16263400	Weak transcription	Fetal Thymus	thymus
31	chr4:16240600-16247400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr4:16242000-16247400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr4:16242000-16254200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr4:16242200-16247400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:16242200-16247600	Weak transcription	Aorta	Aorta
36	chr4:16242200-16257600	Weak transcription	Gastric	stomach
37	chr4:16242200-16267800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr4:16243000-16258000	Weak transcription	Esophagus	oesophagus
39	chr4:16243400-16255200	Weak transcription	Small Intestine	intestine
40	chr4:16243400-16259200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:16243600-16252400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:16244000-16246600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:16244000-16247400	Weak transcription	Fetal Stomach	stomach
44	chr4:16244000-16265000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr4:16244200-16258200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr4:16244400-16249600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr4:16244400-16249600	Strong transcription	Primary T cells from cord blood	blood
48	chr4:16244400-16249600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:16244400-16254000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr4:16244800-16249400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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