Variant report

Variant	rs36049386
Chromosome Location	chr1:196620698-196620699
allele	A/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	FOS	chr1:196620662-196621311	MCF10A-Er-Src	breast:	n/a	chr1:196620766-196620777
2	CEBPB	chr1:196620599-196621355	IMR90	lung:	n/a	chr1:196621099-196621110
3	JUND	chr1:196620674-196621328	K562	blood:	n/a	chr1:196620766-196620777
4	POLR2A	chr1:196620480-196620726	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr1:196620590-196621309	Hela-S3	cervix:	n/a	chr1:196621099-196621110
6	POLR2A	chr1:196620676-196621355	SK-N-MC	brain:	n/a	n/a
7	TBL1XR1	chr1:196620476-196620740	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:196618602..196620905-chr1:196624002..196626095,2	K562	blood:

Variant related genes	Relation type
CFH	TF binding region

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs508505	1.00[AMR][1000 genomes]
rs520992	1.00[AMR][1000 genomes]
rs74137304	1.00[AMR][1000 genomes]

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:51 , 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	chr1:196619600-196620800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:196619800-196620800	Weak transcription	Fetal Thymus	thymus
6	chr1:196619800-196621200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:196619800-196623800	Active TSS	K562	blood
8	chr1:196619800-196625000	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr1:196620000-196621000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr1:196620000-196623400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:196620200-196621000	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr1:196620200-196621200	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr1:196620400-196620800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:196620400-196620800	Enhancers	Primary T cells from cord blood	blood
15	chr1:196620400-196620800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:196620400-196620800	Enhancers	Duodenum Mucosa	Duodenum
17	chr1:196620400-196621000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr1:196620400-196621000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:196620400-196623800	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr1:196620400-196623800	Active TSS	NHDF-Ad	bronchial
21	chr1:196620400-196626000	Active TSS	Liver	Liver
22	chr1:196620600-196620800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr1:196620600-196620800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:196620600-196620800	Enhancers	Adipose Nuclei	Adipose
25	chr1:196620600-196620800	Enhancers	HMEC	breast
26	chr1:196620600-196620800	Enhancers	HSMM	muscle
27	chr1:196620600-196620800	Enhancers	HUVEC	blood vessel
28	chr1:196620600-196621000	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr1:196620600-196621000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:196620600-196621000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:196620600-196621000	Enhancers	A549	lung
32	chr1:196620600-196621000	Flanking Active TSS	NH-A	brain
33	chr1:196620600-196621000	Flanking Active TSS	Osteobl	bone
34	chr1:196620600-196621200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr1:196620600-196621200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:196620600-196621200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr1:196620600-196621200	Active TSS	Monocytes-CD14+_RO01746	blood
38	chr1:196620600-196621400	Active TSS	Primary T cells fromperipheralblood	blood
39	chr1:196620600-196621400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:196620600-196621400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:196620600-196621400	Active TSS	Ovary	ovary
42	chr1:196620600-196621400	Active TSS	Psoas Muscle	Psoas
43	chr1:196620600-196621400	Active TSS	Right Atrium	heart
44	chr1:196620600-196621400	Active TSS	HSMMtube	muscle
45	chr1:196620600-196622200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:196620600-196622600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:196620600-196623000	Active TSS	Fetal Lung	lung
48	chr1:196620600-196623600	Active TSS	Fetal Muscle Leg	muscle
49	chr1:196620600-196623800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:196620600-196623800	Active TSS	NHLF	lung

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