Variant report

Variant	rs561397692
Chromosome Location	chr1:196620935-196620936
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	POLR2A	chr1:196620897-196621401	K562	blood:	n/a	n/a
2	MYC	chr1:196620930-196621313	MCF10A-Er-Src	breast:	n/a	n/a
3	IRF1	chr1:196620864-196621406	K562	blood:	n/a	chr1:196621129-196621149
4	POLR2A	chr1:196620878-196621377	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr1:196620851-196621401	K562	blood:	n/a	n/a
6	MAX	chr1:196620903-196621259	NB4	blood:	n/a	n/a
7	FOS	chr1:196620662-196621311	MCF10A-Er-Src	breast:	n/a	chr1:196620766-196620777
8	STAT3	chr1:196620817-196621359	MCF10A-Er-Src	breast:	n/a	chr1:196621162-196621185 chr1:196621175-196621186
9	STAT3	chr1:196620823-196621370	MCF10A-Er-Src	breast:	n/a	chr1:196621162-196621185 chr1:196621175-196621186
10	POLR2A	chr1:196620911-196621376	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr1:196620835-196621531	PFSK-1	brain:	n/a	n/a
12	CEBPB	chr1:196620599-196621355	IMR90	lung:	n/a	chr1:196621099-196621110
13	POLR2A	chr1:196620851-196621368	U87	brain:	n/a	n/a
14	JUND	chr1:196620674-196621328	K562	blood:	n/a	chr1:196620766-196620777
15	E2F4	chr1:196620913-196621113	MCF10A-Er-Src	breast:	n/a	n/a
16	TEAD4	chr1:196620772-196621416	K562	blood:	n/a	n/a
17	POLR2A	chr1:196620854-196621853	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr1:196620904-196621422	K562	blood:	n/a	n/a
19	STAT3	chr1:196620817-196621370	MCF10A-Er-Src	breast:	n/a	chr1:196621162-196621185 chr1:196621175-196621186
20	CEBPB	chr1:196620590-196621309	Hela-S3	cervix:	n/a	chr1:196621099-196621110
21	PML	chr1:196620871-196621437	K562	blood:	n/a	n/a
22	TBP	chr1:196620826-196621391	Hela-S3	cervix:	n/a	n/a
23	MAFK	chr1:196620746-196621253	IMR90	lung:	n/a	n/a
24	FOXP2	chr1:196620875-196621113	SK-N-MC	brain:	n/a	chr1:196621089-196621101
25	NFYB	chr1:196620794-196621363	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr1:196620840-196621467	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr1:196620794-196621507	Hela-S3	cervix:	n/a	n/a
28	FOS	chr1:196620766-196621329	MCF10A-Er-Src	breast:	n/a	chr1:196620766-196620777
29	POLR2A	chr1:196620929-196621356	K562	blood:	n/a	n/a
30	POLR2A	chr1:196620676-196621355	SK-N-MC	brain:	n/a	n/a
31	MAZ	chr1:196620740-196621352	K562	blood:	n/a	n/a
32	FOXA2	chr1:196620879-196621244	A549	lung:	n/a	chr1:196621089-196621101
33	IRF1	chr1:196620889-196621408	K562	blood:	n/a	chr1:196621129-196621149
34	RCOR1	chr1:196620735-196621310	K562	blood:	n/a	n/a
35	POLR2A	chr1:196620910-196621645	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
CFH	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931415	chr1:196270759-196744780	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2757766	chr1:196590837-196961802	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv428290	chr1:196590837-196961802	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv428565	chr1:196604434-196772489	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv872958	chr1:196615838-196645117	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	nsv872959	chr1:196619720-196660261	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196619000-196621400	Active TSS	Hela-S3	cervix
2	chr1:196619200-196621000	Flanking Active TSS	Dnd41	blood
3	chr1:196619400-196621400	Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr1:196619800-196621200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:196619800-196623800	Active TSS	K562	blood
6	chr1:196619800-196625000	Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr1:196620000-196621000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr1:196620000-196623400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:196620200-196621000	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr1:196620200-196621200	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr1:196620400-196621000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr1:196620400-196621000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:196620400-196623800	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr1:196620400-196623800	Active TSS	NHDF-Ad	bronchial
15	chr1:196620400-196626000	Active TSS	Liver	Liver
16	chr1:196620600-196621000	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr1:196620600-196621000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:196620600-196621000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:196620600-196621000	Enhancers	A549	lung
20	chr1:196620600-196621000	Flanking Active TSS	NH-A	brain
21	chr1:196620600-196621000	Flanking Active TSS	Osteobl	bone
22	chr1:196620600-196621200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr1:196620600-196621200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:196620600-196621200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr1:196620600-196621200	Active TSS	Monocytes-CD14+_RO01746	blood
26	chr1:196620600-196621400	Active TSS	Primary T cells fromperipheralblood	blood
27	chr1:196620600-196621400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:196620600-196621400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:196620600-196621400	Active TSS	Ovary	ovary
30	chr1:196620600-196621400	Active TSS	Psoas Muscle	Psoas
31	chr1:196620600-196621400	Active TSS	Right Atrium	heart
32	chr1:196620600-196621400	Active TSS	HSMMtube	muscle
33	chr1:196620600-196622200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:196620600-196622600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:196620600-196623000	Active TSS	Fetal Lung	lung
36	chr1:196620600-196623600	Active TSS	Fetal Muscle Leg	muscle
37	chr1:196620600-196623800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:196620600-196623800	Active TSS	NHLF	lung
39	chr1:196620600-196624600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:196620800-196621000	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr1:196620800-196621000	Active TSS	Fetal Thymus	thymus
42	chr1:196620800-196621200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:196620800-196621200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
44	chr1:196620800-196621200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:196620800-196621200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:196620800-196621200	Active TSS	Brain Hippocampus Middle	brain
47	chr1:196620800-196621200	Active TSS	Colon Smooth Muscle	Colon
48	chr1:196620800-196621200	Active TSS	Fetal Muscle Trunk	muscle
49	chr1:196620800-196621200	Active TSS	Thymus	Thymus
50	chr1:196620800-196621400	Flanking Active TSS	Primary T cells from cord blood	blood

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