Variant report

Variant	rs41442144
Chromosome Location	chr15:41525357-41525358
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr15:41525312-41526070	IMR90	lung:	n/a	n/a
2	GATA1	chr15:41524808-41527048	K562	blood:	n/a	chr15:41525853-41525862 chr15:41526750-41526766 chr15:41525926-41525937 chr15:41526748-41526769 chr15:41525855-41525865 chr15:41525686-41525695 chr15:41525844-41525861
3	JUN	chr15:41524923-41526277	K562	blood:	n/a	chr15:41525687-41525697 chr15:41525684-41525695 chr15:41525687-41525697 chr15:41525687-41525697
4	EP300	chr15:41525334-41525570	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:41522897..41527944-chr15:41573906..41578128,9	K562	blood:
2	chr15:41512004..41513942-chr15:41524174..41526665,2	K562	blood:
3	chr15:41524374..41527322-chr15:41542532..41544931,2	K562	blood:
4	chr15:41219463..41223303-chr15:41521190..41526712,8	K562	blood:
5	chr15:41524238..41526423-chr15:41781115..41782836,2	K562	blood:
6	chr15:41523511..41525481-chr15:41526363..41527921,2	K562	blood:
7	chr15:41522629..41527275-chr15:41575215..41577611,6	K562	blood:
8	chr15:41523451..41525633-chr15:41623235..41625068,3	K562	blood:
9	chr15:41407188..41409566-chr15:41523202..41527124,5	K562	blood:

Variant related genes	Relation type
EXD1	TF binding region
ENSG00000104147	Chromatin interaction
ENSG00000137804	Chromatin interaction
ENSG00000247556	Chromatin interaction
ENSG00000128908	Chromatin interaction
ENSG00000128917	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10152631	0.90[JPT][hapmap]
rs10152855	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11070321	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11070325	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11070326	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11855102	0.93[ASN][1000 genomes]
rs11858115	0.87[ASN][1000 genomes]
rs11858678	0.82[ASN][1000 genomes]
rs12324159	0.81[ASN][1000 genomes]
rs1659227	0.80[ASN][1000 genomes]
rs16971693	0.97[GIH][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16971700	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1717198	0.81[ASN][1000 genomes]
rs1866400	0.97[GIH][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1965139	0.85[ASN][1000 genomes]
rs1965140	0.85[ASN][1000 genomes]
rs1971131	0.95[GIH][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2083239	0.93[ASN][1000 genomes]
rs2164996	0.87[ASN][1000 genomes]
rs28409265	0.87[ASN][1000 genomes]
rs28493237	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28495204	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28568756	0.87[ASN][1000 genomes]
rs28615543	0.85[ASN][1000 genomes]
rs28665387	0.88[ASN][1000 genomes]
rs28735224	0.87[ASN][1000 genomes]
rs2899013	0.86[ASN][1000 genomes]
rs2928141	0.81[ASN][1000 genomes]
rs4258585	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4419033	0.83[ASN][1000 genomes]
rs4445868	0.92[ASN][1000 genomes]
rs537244	0.82[ASN][1000 genomes]
rs551482	0.83[ASN][1000 genomes]
rs55756301	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56082289	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56837771	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57943533	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58083671	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58644012	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59389433	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59616518	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59691280	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60249025	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60422198	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61495227	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61586152	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6492988	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6492991	0.91[ASN][1000 genomes]
rs6492992	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6492993	0.93[ASN][1000 genomes]
rs6492994	0.92[ASN][1000 genomes]
rs6492997	0.87[ASN][1000 genomes]
rs66471237	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66510055	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66602495	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67531333	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs68133575	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs690733	0.83[ASN][1000 genomes]
rs691702	0.83[ASN][1000 genomes]
rs7162443	0.88[ASN][1000 genomes]
rs7162503	0.85[ASN][1000 genomes]
rs7165931	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7166205	0.93[ASN][1000 genomes]
rs7166556	0.83[GIH][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap]
rs7166905	0.91[ASN][1000 genomes]
rs7167813	0.87[ASN][1000 genomes]
rs7170049	0.86[ASN][1000 genomes]
rs7170913	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7173086	0.93[ASN][1000 genomes]
rs7175912	0.85[ASN][1000 genomes]
rs7178840	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7179231	0.97[GIH][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7179676	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7179969	0.97[GIH][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72737765	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73396329	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73396336	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73396340	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8023638	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8026858	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8029792	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8032589	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8035252	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8036602	0.82[ASN][1000 genomes]
rs8037302	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8038834	0.95[GIH][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8039915	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8039934	0.95[GIH][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs909023	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs909024	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs909025	0.95[GIH][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9972345	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9972349	0.86[ASN][1000 genomes]
rs9972622	0.86[ASN][1000 genomes]
rs9972623	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv457120	chr15:41410705-41546631	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv569231	chr15:41410705-41546631	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv1844058	chr15:41511916-41548948	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41522600-41525400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:41522800-41525400	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr15:41523800-41525600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr15:41524000-41525800	Flanking Active TSS	Hela-S3	cervix
5	chr15:41524200-41525400	Enhancers	Primary B cells from peripheral blood	blood
6	chr15:41524200-41525400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr15:41524200-41525400	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr15:41524200-41525600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr15:41524200-41525800	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr15:41524200-41525800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr15:41524200-41525800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr15:41524200-41525800	Weak transcription	Lung	lung
13	chr15:41524200-41533200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr15:41524200-41533400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:41524200-41535800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr15:41524200-41536600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr15:41524200-41546200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr15:41524200-41554800	Weak transcription	Fetal Thymus	thymus
19	chr15:41524200-41555800	Weak transcription	Aorta	Aorta
20	chr15:41524200-41563800	Weak transcription	Small Intestine	intestine
21	chr15:41524200-41575800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr15:41524400-41525400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr15:41524400-41525400	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr15:41524400-41525400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr15:41524400-41525400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:41524400-41525400	Enhancers	Brain Substantia Nigra	brain
27	chr15:41524400-41525400	Enhancers	Fetal Muscle Leg	muscle
28	chr15:41524400-41525800	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr15:41524400-41525800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr15:41524400-41525800	Enhancers	Dnd41	blood
31	chr15:41524400-41526000	Enhancers	Fetal Heart	heart
32	chr15:41524400-41532400	Weak transcription	Fetal Intestine Small	intestine
33	chr15:41524400-41533400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr15:41524400-41533600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr15:41524400-41533600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr15:41524400-41535800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr15:41524400-41536600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr15:41524400-41555800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr15:41524600-41525400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr15:41524600-41525400	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr15:41524600-41525400	Enhancers	Brain Hippocampus Middle	brain
42	chr15:41524600-41525400	Enhancers	Fetal Intestine Large	intestine
43	chr15:41524600-41525400	Flanking Active TSS	NHLF	lung
44	chr15:41524600-41525400	Enhancers	Osteobl	bone
45	chr15:41524600-41526000	Enhancers	Muscle Satellite Cultured Cells	--
46	chr15:41524600-41526000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr15:41524600-41526200	Enhancers	Brain Cingulate Gyrus	brain
48	chr15:41524600-41526200	Enhancers	Right Ventricle	heart
49	chr15:41524600-41526400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr15:41524600-41526600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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