Variant report

Variant	rs2240683
Chromosome Location	chr4:15991791-15991792
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:15983233..15985275-chr4:15990629..15992884,2	MCF-7	breast:
2	chr4:15990358..15992506-chr4:15994289..15997209,3	K562	blood:
3	chr4:15989164..15991988-chr7:91873998..91876151,2	MCF-7	breast:
4	chr4:15986153..15988625-chr4:15990969..15992958,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000001629	Chromatin interaction
ENSG00000007062	Chromatin interaction
ENSG00000001631	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11726546	1.00[CEU][hapmap]
rs2058146	0.91[EUR][1000 genomes]
rs2058147	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2240684	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2677778	1.00[CEU][hapmap];0.83[TSI][hapmap];0.94[EUR][1000 genomes]
rs28421727	0.91[EUR][1000 genomes]
rs4698132	0.94[EUR][1000 genomes]
rs6449212	1.00[CEU][hapmap];0.83[TSI][hapmap];0.91[EUR][1000 genomes]
rs9991714	1.00[CEU][hapmap]

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	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv916742	chr4:15797994-16064232	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv461281	chr4:15984033-16001378	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv593770	chr4:15984033-16001378	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15964600-16031000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:15968000-16002600	Weak transcription	Left Ventricle	heart
3	chr4:15968600-15993600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:15968800-15992600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:15969600-16011600	Weak transcription	Fetal Lung	lung
6	chr4:15971000-15992200	Weak transcription	Fetal Brain Male	brain
7	chr4:15971000-16008000	Weak transcription	Aorta	Aorta
8	chr4:15973200-15993800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:15974000-15991800	Weak transcription	Fetal Intestine Small	intestine
10	chr4:15976800-16002600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr4:15977000-16007400	Weak transcription	Gastric	stomach
12	chr4:15978000-15996800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:15978200-16003200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr4:15978800-16002800	Weak transcription	Right Ventricle	heart
15	chr4:15979400-16000400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:15979600-15996600	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr4:15979600-15998800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr4:15982200-16008200	Weak transcription	Brain Germinal Matrix	brain
19	chr4:15982600-15994400	Weak transcription	Fetal Intestine Large	intestine
20	chr4:15982800-16000200	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:15983200-15992800	Strong transcription	Fetal Muscle Trunk	muscle
22	chr4:15983200-15993000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr4:15983200-16000000	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr4:15983400-15999800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr4:15983600-15992800	Strong transcription	Primary hematopoietic stem cells	blood
26	chr4:15983600-15992800	Strong transcription	Fetal Muscle Leg	muscle
27	chr4:15985400-15997000	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr4:15987000-16003000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:15987400-15992400	Weak transcription	Fetal Brain Female	brain
30	chr4:15988400-16033800	Weak transcription	Pancreas	Pancrea
31	chr4:15988800-15992800	Strong transcription	H9 Cell Line	embryonic stem cell
32	chr4:15988800-15995200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr4:15988800-15997000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:15989000-15992000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:15989000-15992200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:15989000-16008000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr4:15989000-16014400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:15989000-16024200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:15989800-16002200	Strong transcription	Fetal Stomach	stomach
40	chr4:15990000-15992800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
41	chr4:15990000-16015200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:15990400-15991800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr4:15990600-15992600	Weak transcription	Fetal Kidney	kidney
44	chr4:15990600-15992800	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr4:15990600-15996800	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr4:15990800-15992800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr4:15990800-15993200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:15991000-15993200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr4:15991000-16029000	Weak transcription	Stomach Mucosa	stomach
50	chr4:15991200-15992600	Strong transcription	Colonic Mucosa	Colon

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