Variant report

Variant	rs7684779
Chromosome Location	chr4:16243532-16243533
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:16228012..16229543-chr4:16242961..16244939,2	K562	blood:
2	chr4:16238904..16240455-chr4:16240677..16243574,2	MCF-7	breast:
3	chr4:16233218..16235689-chr4:16242386..16245204,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169762	Chromatin interaction
ENSG00000263327	Chromatin interaction

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

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

rs_ID	r²[population]
rs10004142	1.00[AMR][1000 genomes]
rs10006998	0.81[AFR][1000 genomes]
rs10014098	1.00[AMR][1000 genomes]
rs10033234	1.00[AMR][1000 genomes]
rs28405707	0.81[AFR][1000 genomes]
rs28418606	1.00[AMR][1000 genomes]
rs28524014	1.00[AMR][1000 genomes]
rs28525607	1.00[AMR][1000 genomes]
rs28545799	1.00[AMR][1000 genomes]
rs28634046	1.00[AMR][1000 genomes]
rs6816631	1.00[AMR][1000 genomes]
rs6847134	1.00[AMR][1000 genomes]
rs73798722	1.00[AMR][1000 genomes]
rs73802010	1.00[AMR][1000 genomes]
rs9993432	1.00[AMR][1000 genomes]
rs9999457	1.00[AMR][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:57 , 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	chr4:16230000-16244200	Weak transcription	Pancreas	Pancrea
5	chr4:16230000-16244800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:16230000-16244800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr4:16230600-16244200	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:16232200-16244000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:16234000-16252000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:16234000-16252400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr4:16234000-16255000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:16234200-16244800	Weak transcription	Right Atrium	heart
13	chr4:16234200-16254400	Weak transcription	NHDF-Ad	bronchial
14	chr4:16234200-16257400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr4:16234200-16264800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:16234400-16247200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr4:16234400-16247800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:16234400-16247800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr4:16234400-16252200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:16234400-16261600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr4:16234600-16246600	Weak transcription	Adipose Nuclei	Adipose
22	chr4:16234800-16243600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr4:16234800-16253800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr4:16235000-16252200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:16235400-16272800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr4:16235600-16247200	Weak transcription	Brain Anterior Caudate	brain
27	chr4:16235600-16261600	Weak transcription	Fetal Kidney	kidney
28	chr4:16236200-16252400	Weak transcription	Right Ventricle	heart
29	chr4:16236200-16257400	Weak transcription	Left Ventricle	heart
30	chr4:16237200-16257400	Weak transcription	Brain Hippocampus Middle	brain
31	chr4:16237600-16254800	Weak transcription	Brain Substantia Nigra	brain
32	chr4:16238200-16258800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr4:16238200-16266000	Weak transcription	Fetal Brain Male	brain
34	chr4:16238400-16258400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr4:16238600-16245200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr4:16240000-16259800	Weak transcription	Fetal Lung	lung
37	chr4:16240200-16246600	Weak transcription	Fetal Intestine Small	intestine
38	chr4:16240400-16244000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr4:16240400-16244400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:16240400-16263400	Weak transcription	Fetal Thymus	thymus
41	chr4:16240600-16247400	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr4:16241600-16244000	Weak transcription	Fetal Intestine Large	intestine
43	chr4:16241600-16244400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr4:16242000-16243800	Weak transcription	Liver	Liver
45	chr4:16242000-16247400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr4:16242000-16254200	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr4:16242200-16247400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:16242200-16247600	Weak transcription	Aorta	Aorta
49	chr4:16242200-16257600	Weak transcription	Gastric	stomach
50	chr4:16242200-16267800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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