Variant report

Variant	rs3733512
Chromosome Location	chr4:119955657-119955658
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119951515..119953650-chr4:119954858..119957423,2	K562	blood:
2	chr4:119947641..119949171-chr4:119953540..119955900,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11098473	0.82[EUR][1000 genomes]
rs17263971	0.81[ASN][1000 genomes]
rs3733511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55807023	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66887948	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9784534	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119941800-119961200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:119946800-119957000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:119947200-119959800	Weak transcription	Brain Anterior Caudate	brain
4	chr4:119948200-119961000	Weak transcription	Brain Hippocampus Middle	brain
5	chr4:119948200-119961800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:119948200-119961800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:119949200-119957000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:119949200-119961000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr4:119949200-119961000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:119949600-119959200	Weak transcription	Right Atrium	heart
11	chr4:119949800-119959800	Weak transcription	A549	lung
12	chr4:119951000-119956000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:119951000-119956600	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
14	chr4:119952200-119961000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:119952400-119956400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr4:119952600-119956400	Weak transcription	Fetal Kidney	kidney
17	chr4:119952600-119961800	Weak transcription	Brain Angular Gyrus	brain
18	chr4:119953000-119955800	Weak transcription	Colonic Mucosa	Colon
19	chr4:119953000-119955800	Weak transcription	Gastric	stomach
20	chr4:119953200-119955800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr4:119953200-119955800	Weak transcription	Lung	lung
22	chr4:119953200-119957000	Weak transcription	Adipose Nuclei	Adipose
23	chr4:119953200-119957000	Weak transcription	Ovary	ovary
24	chr4:119953200-119961000	Weak transcription	Brain Substantia Nigra	brain
25	chr4:119953200-119961800	Weak transcription	Esophagus	oesophagus
26	chr4:119953400-119956200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:119953600-119963000	Weak transcription	Fetal Intestine Large	intestine
28	chr4:119953800-119955800	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr4:119953800-119955800	Weak transcription	Fetal Muscle Leg	muscle
30	chr4:119954200-119958200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr4:119954200-119959000	Genic enhancers	HSMM	muscle
32	chr4:119954400-119956400	Enhancers	Osteobl	bone
33	chr4:119954400-119957400	Enhancers	Fetal Heart	heart
34	chr4:119954400-119961800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr4:119954600-119955800	Weak transcription	Psoas Muscle	Psoas
36	chr4:119954800-119955800	Enhancers	Rectal Smooth Muscle	rectum
37	chr4:119954800-119957600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:119955000-119955800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:119955000-119956000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:119955000-119956200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:119955000-119956800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:119955000-119956800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:119955000-119957200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
44	chr4:119955200-119955800	Enhancers	HSMMtube	muscle
45	chr4:119955200-119956200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr4:119955200-119957200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr4:119955200-119957800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr4:119955400-119955800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr4:119955400-119956000	Enhancers	HMEC	breast
50	chr4:119955400-119956200	Genic enhancers	NHDF-Ad	bronchial

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