Variant report

Variant	rs3814060
Chromosome Location	chr4:119948797-119948798
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:119947447..119949385-chr4:119952069..119954323,2	K562	blood:
2	chr4:119903981..119906939-chr4:119947642..119950040,2	MCF-7	breast:
3	chr4:119947641..119949171-chr4:119953540..119955900,2	MCF-7	breast:
4	chr4:119948393..119951325-chr4:119952925..119955236,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10518309	0.85[CHB][hapmap]
rs12507195	1.00[CHB][hapmap]
rs17050104	0.85[CHB][hapmap]
rs6837925	0.85[CHB][hapmap]
rs749410	1.00[CHB][hapmap];0.89[JPT][hapmap];0.98[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:65 , 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	chr4:119944800-119949200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr4:119946400-119949800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:119946400-119949800	Active TSS	A549	lung
5	chr4:119946600-119949200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr4:119946600-119951000	Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr4:119946800-119951000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr4:119946800-119957000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr4:119947000-119952200	Weak transcription	Brain Angular Gyrus	brain
10	chr4:119947200-119949800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr4:119947200-119959800	Weak transcription	Brain Anterior Caudate	brain
12	chr4:119947400-119949000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:119947400-119951000	Active TSS	HSMMtube	muscle
14	chr4:119947400-119951200	Weak transcription	Fetal Kidney	kidney
15	chr4:119947400-119955400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:119947400-119955600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:119947600-119951000	Active TSS	Rectal Smooth Muscle	rectum
18	chr4:119947600-119951200	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr4:119947800-119948800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr4:119947800-119948800	Genic enhancers	Aorta	Aorta
21	chr4:119947800-119949800	Active TSS	Psoas Muscle	Psoas
22	chr4:119947800-119951000	Active TSS	Colon Smooth Muscle	Colon
23	chr4:119947800-119954400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr4:119948000-119948800	Active TSS	Esophagus	oesophagus
25	chr4:119948000-119949200	Active TSS	Colonic Mucosa	Colon
26	chr4:119948000-119949400	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr4:119948000-119949800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr4:119948000-119949800	Active TSS	Fetal Intestine Large	intestine
29	chr4:119948000-119951000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:119948000-119951200	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr4:119948000-119951200	Weak transcription	Spleen	Spleen
32	chr4:119948200-119948800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:119948200-119949800	Active TSS	Fetal Muscle Trunk	muscle
34	chr4:119948200-119951000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:119948200-119951000	Active TSS	Stomach Smooth Muscle	stomach
36	chr4:119948200-119951000	Active TSS	HSMM	muscle
37	chr4:119948200-119951400	Weak transcription	Lung	lung
38	chr4:119948200-119955000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:119948200-119955400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr4:119948200-119955400	Weak transcription	HMEC	breast
41	chr4:119948200-119961000	Weak transcription	Brain Hippocampus Middle	brain
42	chr4:119948200-119961800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:119948200-119961800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr4:119948400-119949200	Enhancers	H9 Cell Line	embryonic stem cell
45	chr4:119948400-119949200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr4:119948400-119949200	Active TSS	Duodenum Mucosa	Duodenum
47	chr4:119948400-119949600	Active TSS	Adipose Nuclei	Adipose
48	chr4:119948400-119949600	Active TSS	Right Atrium	heart
49	chr4:119948400-119949800	Active TSS	Ovary	ovary
50	chr4:119948400-119950400	Active TSS	Fetal Muscle Leg	muscle

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