Variant report

Variant	rs55694225
Chromosome Location	chr7:127330744-127330745
allele	A/G
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	CEBPB	chr7:127330725-127330916	H1-hESC	embryonic stem cell:	n/a	chr7:127330792-127330805 chr7:127330794-127330803 chr7:127330794-127330803 chr7:127330794-127330803 chr7:127330794-127330803 chr7:127330792-127330803 chr7:127330793-127330804
2	CEBPB	chr7:127330651-127330948	A549	lung:	n/a	chr7:127330792-127330805 chr7:127330794-127330803 chr7:127330794-127330803 chr7:127330794-127330803 chr7:127330794-127330803 chr7:127330792-127330803 chr7:127330793-127330804
3	CEBPB	chr7:127330649-127330960	HepG2	liver:	n/a	chr7:127330792-127330805 chr7:127330794-127330803 chr7:127330794-127330803 chr7:127330794-127330803 chr7:127330794-127330803 chr7:127330792-127330803 chr7:127330793-127330804
4	POLR2A	chr7:127330310-127330891	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr7:127330310-127331229	H1-neurons	neurons:	n/a	n/a
6	CEBPB	chr7:127330633-127330969	K562	blood:	n/a	chr7:127330792-127330805 chr7:127330794-127330803 chr7:127330794-127330803 chr7:127330794-127330803 chr7:127330794-127330803 chr7:127330792-127330803 chr7:127330793-127330804

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127328273..127331929-chr7:127333052..127335984,3	K562	blood:

Variant related genes	Relation type
SND1	TF binding region
ENSG00000197157	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10215276	0.83[ASN][1000 genomes]
rs10251423	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10251548	0.85[EUR][1000 genomes]
rs10260037	0.83[ASN][1000 genomes]
rs1029927	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10954163	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11521053	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11971935	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11972774	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11976841	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11976946	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11977012	0.90[ASN][1000 genomes]
rs11977915	0.90[ASN][1000 genomes]
rs11980318	0.90[ASN][1000 genomes]
rs12531440	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12533846	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12539728	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12540865	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13236900	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13237048	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1362268	0.81[ASN][1000 genomes]
rs141450	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16885524	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17151241	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17151270	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17716738	0.90[ASN][1000 genomes]
rs17718395	0.90[ASN][1000 genomes]
rs1860934	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1881084	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2014583	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2016786	0.91[EUR][1000 genomes]
rs2043982	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2119452	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2119453	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2141259	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2402866	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2402867	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2402870	0.91[EUR][1000 genomes]
rs325440	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs325442	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs325444	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs325445	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs325446	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs325447	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs325451	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35121681	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35176520	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35940771	0.91[EUR][1000 genomes]
rs35971861	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3779529	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3779530	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3808092	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3808093	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3808095	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3808097	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3808105	0.90[ASN][1000 genomes]
rs3808106	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3808107	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3808112	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3824000	0.83[ASN][1000 genomes]
rs4728077	0.90[ASN][1000 genomes]
rs4731376	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4731378	0.91[EUR][1000 genomes]
rs56306023	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58583807	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6467145	0.91[EUR][1000 genomes]
rs6961381	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6963455	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6968199	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6969880	0.86[EUR][1000 genomes]
rs712712	0.97[EUR][1000 genomes]
rs712716	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73234861	0.90[ASN][1000 genomes]
rs73234862	0.90[ASN][1000 genomes]
rs73234880	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234882	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234897	0.90[ASN][1000 genomes]
rs741599	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs759843	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7785050	0.87[EUR][1000 genomes]
rs7786041	0.83[ASN][1000 genomes]
rs7797663	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7799882	0.91[EUR][1000 genomes]
rs917832	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs918793	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs972088	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs972089	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs972090	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1031658	chr7:127266882-127376775	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127299000-127334400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr7:127308800-127333600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr7:127309400-127333600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:127309600-127339600	Weak transcription	Brain Germinal Matrix	brain
5	chr7:127318200-127333800	Weak transcription	Brain Angular Gyrus	brain
6	chr7:127324200-127333800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:127324200-127338200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:127324400-127349000	Strong transcription	K562	blood
9	chr7:127324600-127334800	Weak transcription	Psoas Muscle	Psoas
10	chr7:127324800-127338400	Weak transcription	Small Intestine	intestine
11	chr7:127324800-127344200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:127324800-127349400	Weak transcription	Stomach Mucosa	stomach
13	chr7:127324800-127350800	Weak transcription	Fetal Brain Female	brain
14	chr7:127324800-127372200	Weak transcription	Fetal Heart	heart
15	chr7:127325000-127346400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:127325200-127334600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:127325600-127331200	Strong transcription	Fetal Intestine Large	intestine
18	chr7:127325600-127347200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:127325600-127363000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr7:127325800-127331000	Strong transcription	Primary T cells from cord blood	blood
21	chr7:127325800-127331000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:127325800-127334600	Weak transcription	Colonic Mucosa	Colon
23	chr7:127325800-127350200	Strong transcription	HepG2	liver
24	chr7:127326000-127332400	Strong transcription	Fetal Intestine Small	intestine
25	chr7:127326000-127352200	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr7:127326000-127354400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:127326000-127355600	Strong transcription	Duodenum Mucosa	Duodenum
28	chr7:127326200-127331400	Strong transcription	Liver	Liver
29	chr7:127326200-127331600	Strong transcription	GM12878-XiMat	blood
30	chr7:127326200-127332200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:127326200-127332800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:127326200-127333000	Strong transcription	Fetal Muscle Trunk	muscle
33	chr7:127326200-127338400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:127326200-127350600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:127326400-127331200	Strong transcription	Thymus	Thymus
36	chr7:127326400-127331400	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr7:127326400-127336000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:127326400-127336000	Strong transcription	Fetal Muscle Leg	muscle
39	chr7:127326400-127347000	Strong transcription	Osteobl	bone
40	chr7:127326400-127347200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:127326400-127349200	Strong transcription	Dnd41	blood
42	chr7:127326400-127350200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr7:127326400-127350800	Strong transcription	Primary B cells from cord blood	blood
44	chr7:127326400-127350800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr7:127326400-127351000	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr7:127326400-127351800	Strong transcription	Placenta	Placenta
47	chr7:127326400-127352800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:127326400-127356600	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr7:127326600-127330800	Strong transcription	Hela-S3	cervix
50	chr7:127326600-127331000	Strong transcription	Primary T helper cells PMA-I stimulated	--

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