Variant report

Variant	rs2071425
Chromosome Location	chr4:74735244-74735245
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11547681	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1429638	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4422395	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4694644	0.80[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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription 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	nsv432612	chr4:74723372-74774372	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74733600-74738800	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr4:74733800-74736400	Active TSS	Rectal Smooth Muscle	rectum
3	chr4:74734000-74735800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr4:74734000-74735800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:74734000-74736400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:74734200-74735400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr4:74734200-74735400	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr4:74734200-74735600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:74734200-74737000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:74734400-74735400	Bivalent/Poised TSS	Fetal Stomach	stomach
11	chr4:74734400-74735400	Active TSS	Thymus	Thymus
12	chr4:74734400-74735400	Active TSS	NHLF	lung
13	chr4:74734400-74735600	Flanking Active TSS	Liver	Liver
14	chr4:74734400-74735600	Active TSS	Colon Smooth Muscle	Colon
15	chr4:74734400-74735600	Bivalent Enhancer	Fetal Brain Male	brain
16	chr4:74734400-74735600	Active TSS	Placenta Amnion	Placenta Amnion
17	chr4:74734400-74735600	Active TSS	Stomach Mucosa	stomach
18	chr4:74734400-74735800	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr4:74734400-74735800	Bivalent/Poised TSS	Brain Substantia Nigra	brain
20	chr4:74734400-74735800	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr4:74734400-74736200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:74734400-74736200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
23	chr4:74734400-74736200	Active TSS	Fetal Intestine Large	intestine
24	chr4:74734400-74736200	Active TSS	Right Atrium	heart
25	chr4:74734400-74736200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
26	chr4:74734400-74736200	Active TSS	A549	lung
27	chr4:74734400-74736400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:74734400-74736800	Active TSS	Pancreas	Pancrea
29	chr4:74734600-74735400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr4:74734600-74735400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:74734600-74735400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr4:74734600-74735400	Active TSS	Aorta	Aorta
33	chr4:74734600-74735400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
34	chr4:74734600-74735600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:74734600-74735600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:74734600-74735600	Active TSS	H9 Cell Line	embryonic stem cell
37	chr4:74734600-74735600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:74734600-74735600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
39	chr4:74734600-74735600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr4:74734600-74735600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:74734600-74735600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr4:74734600-74735600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
43	chr4:74734600-74735600	Bivalent Enhancer	Fetal Heart	heart
44	chr4:74734600-74735600	Active TSS	Fetal Intestine Small	intestine
45	chr4:74734600-74735600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
46	chr4:74734600-74735600	Active TSS	HSMM	muscle
47	chr4:74734600-74735800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr4:74734600-74735800	Active TSS	Primary T cells from cord blood	blood
49	chr4:74734600-74735800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:74734600-74735800	Active TSS	Brain Anterior Caudate	brain

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