Variant report

Variant	rs2240682
Chromosome Location	chr4:15994940-15994941
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	chr4:15994705..15996377-chr4:16001916..16003679,2	MCF-7	breast:
2	chr4:15990358..15992506-chr4:15994289..15997209,3	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12498478	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12512355	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs12649852	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13142480	0.87[EUR][1000 genomes]
rs17477869	0.90[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2108875	0.81[EUR][1000 genomes]
rs3796855	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3815344	0.85[AMR][1000 genomes];0.87[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	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:47 , 50 per page) page: 1

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	chr4:15969600-16011600	Weak transcription	Fetal Lung	lung
4	chr4:15971000-16008000	Weak transcription	Aorta	Aorta
5	chr4:15976800-16002600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:15977000-16007400	Weak transcription	Gastric	stomach
7	chr4:15978000-15996800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:15978200-16003200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr4:15978800-16002800	Weak transcription	Right Ventricle	heart
10	chr4:15979400-16000400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr4:15979600-15996600	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr4:15979600-15998800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr4:15982200-16008200	Weak transcription	Brain Germinal Matrix	brain
14	chr4:15982800-16000200	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr4:15983200-16000000	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr4:15983400-15999800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr4:15985400-15997000	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr4:15987000-16003000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:15988400-16033800	Weak transcription	Pancreas	Pancrea
20	chr4:15988800-15995200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr4:15988800-15997000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:15989000-16008000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:15989000-16014400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:15989000-16024200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:15989800-16002200	Strong transcription	Fetal Stomach	stomach
26	chr4:15990000-16015200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:15990600-15996800	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr4:15991000-16029000	Weak transcription	Stomach Mucosa	stomach
29	chr4:15991800-15996800	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr4:15992400-16003200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:15992800-16002600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:15992800-16024800	Weak transcription	Fetal Intestine Small	intestine
33	chr4:15993000-16002600	Weak transcription	Fetal Brain Female	brain
34	chr4:15993600-15995000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr4:15993600-15995400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:15993800-15995000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr4:15993800-15995000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:15993800-16002600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr4:15994400-15995400	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr4:15994400-15995600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
41	chr4:15994400-15996800	Strong transcription	Colonic Mucosa	Colon
42	chr4:15994400-15997000	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr4:15994400-15999800	Strong transcription	Fetal Muscle Leg	muscle
44	chr4:15994600-15997000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr4:15994600-16002400	Strong transcription	Primary hematopoietic stem cells	blood
46	chr4:15994800-15999800	Strong transcription	Fetal Muscle Trunk	muscle
47	chr4:15994800-16007200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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