Variant report

Variant	rs66887948
Chromosome Location	chr4:119960261-119960262
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119959493..119961509-chr4:120134410..120137217,2	MCF-7	breast:
2	chr4:119957521..119966347-chr4:120131974..120135434,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178636	Chromatin interaction
ENSG00000145390	Chromatin interaction

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

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

rs_ID	r²[population]
rs11098473	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17263971	0.81[ASN][1000 genomes]
rs3733511	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3733512	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55807023	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9784534	0.89[AMR][1000 genomes];0.88[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:72 , 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	chr4:119948200-119961000	Weak transcription	Brain Hippocampus Middle	brain
3	chr4:119948200-119961800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:119948200-119961800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:119949200-119961000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:119949200-119961000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:119952200-119961000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:119952600-119961800	Weak transcription	Brain Angular Gyrus	brain
9	chr4:119953200-119961000	Weak transcription	Brain Substantia Nigra	brain
10	chr4:119953200-119961800	Weak transcription	Esophagus	oesophagus
11	chr4:119953600-119963000	Weak transcription	Fetal Intestine Large	intestine
12	chr4:119954400-119961800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr4:119955800-119961000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:119956000-119961800	Weak transcription	Right Ventricle	heart
15	chr4:119956200-119960800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr4:119956200-119961800	Weak transcription	Fetal Stomach	stomach
17	chr4:119956200-119967400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr4:119956200-119973200	Weak transcription	Psoas Muscle	Psoas
19	chr4:119956600-119962000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:119956600-119963000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:119956600-119964000	Enhancers	Rectal Smooth Muscle	rectum
22	chr4:119956800-119965600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:119957200-119961200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr4:119957200-119961800	Weak transcription	Fetal Kidney	kidney
25	chr4:119957200-119961800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr4:119957200-119961800	Enhancers	NHDF-Ad	bronchial
27	chr4:119957200-119964000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr4:119957400-119960600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr4:119957400-119961400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:119957400-119961800	Weak transcription	Fetal Heart	heart
31	chr4:119957400-119961800	Weak transcription	HMEC	breast
32	chr4:119957600-119961000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr4:119957800-119960400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr4:119957800-119961600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:119957800-119961800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:119957800-119961800	Weak transcription	Fetal Muscle Leg	muscle
37	chr4:119957800-119962800	Weak transcription	Hela-S3	cervix
38	chr4:119958000-119960400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr4:119958000-119960600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr4:119958000-119961000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr4:119958000-119961400	Weak transcription	NH-A	brain
42	chr4:119958400-119960400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr4:119958800-119970400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr4:119959000-119960600	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr4:119959000-119961800	Enhancers	HSMM	muscle
46	chr4:119959000-119963200	Enhancers	Colon Smooth Muscle	Colon
47	chr4:119959200-119961800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:119959200-119961800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:119959200-119962600	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr4:119959200-119963200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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