Variant report

Variant	rs74115396
Chromosome Location	chr1:120453618-120453619
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	MAX	chr1:120453004-120453824	NB4	blood:	n/a	n/a
2	POLR2A	chr1:120452489-120453728	Hela-S3	cervix:	n/a	n/a
3	MYC	chr1:120452931-120453779	NB4	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:120444002..120446345-chr1:120453344..120455730,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261662	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1043964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10494233	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10494234	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1493693	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024487	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024508	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024521	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024536	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024564	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024577	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024584	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17024593	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17258606	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3795666	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56342935	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59024536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74115387	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74115388	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74115390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74115392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74115509	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74117505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74117563	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74117565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74117567	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74117568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74117570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7412780	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7527186	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv915933	chr1:120323527-120471049	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv831226	chr1:120331599-120471049	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv533996	chr1:120359524-120471049	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv436325	chr1:120390914-120471049	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv547625	chr1:120422705-120466108	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
11	nsv2610	chr1:120451060-120471049	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120446400-120454400	Weak transcription	NH-A	brain
2	chr1:120448200-120471000	Weak transcription	Right Atrium	heart
3	chr1:120448400-120457400	Weak transcription	Fetal Brain Female	brain
4	chr1:120448800-120454800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:120448800-120455800	Weak transcription	NHLF	lung
6	chr1:120448800-120456000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:120449000-120456600	Weak transcription	Aorta	Aorta
8	chr1:120449200-120457200	Weak transcription	Gastric	stomach
9	chr1:120449600-120456200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:120449600-120457800	Weak transcription	Fetal Intestine Small	intestine
11	chr1:120450000-120473000	Strong transcription	HSMM	muscle
12	chr1:120450200-120456200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:120450200-120457800	Weak transcription	Colonic Mucosa	Colon
14	chr1:120450200-120458600	Weak transcription	HepG2	liver
15	chr1:120450400-120455200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:120450400-120455600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:120450400-120456800	Weak transcription	Fetal Intestine Large	intestine
18	chr1:120450400-120456800	Weak transcription	Pancreas	Pancrea
19	chr1:120450600-120454400	Weak transcription	NHDF-Ad	bronchial
20	chr1:120450600-120455800	Weak transcription	Liver	Liver
21	chr1:120450800-120454400	Weak transcription	Primary B cells from cord blood	blood
22	chr1:120450800-120456600	Weak transcription	Thymus	Thymus
23	chr1:120451000-120454800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:120451000-120455200	Weak transcription	Placenta	Placenta
25	chr1:120451000-120456600	Weak transcription	Spleen	Spleen
26	chr1:120451000-120458400	Weak transcription	Small Intestine	intestine
27	chr1:120451000-120466800	Weak transcription	Fetal Brain Male	brain
28	chr1:120451400-120456600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr1:120451400-120457200	Weak transcription	Hela-S3	cervix
30	chr1:120451600-120455600	Weak transcription	Fetal Lung	lung
31	chr1:120451600-120480000	Weak transcription	Psoas Muscle	Psoas
32	chr1:120451800-120455400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:120452000-120455600	Weak transcription	Adipose Nuclei	Adipose
34	chr1:120452000-120456600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:120452000-120485600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:120452200-120453800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:120452200-120454200	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr1:120452200-120455000	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr1:120452200-120455600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr1:120452200-120456400	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr1:120452400-120455800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:120452600-120453800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr1:120452600-120453800	Enhancers	H1 Cell Line	embryonic stem cell
44	chr1:120452600-120453800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr1:120452600-120453800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:120452600-120454200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:120452600-120455200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:120452600-120456000	Weak transcription	Fetal Kidney	kidney
49	chr1:120452600-120456600	Weak transcription	HUVEC	blood vessel
50	chr1:120452600-120457400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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