Variant report

Variant	rs74140397
Chromosome Location	chr1:228074082-228074083
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:228064983..228067684-chr1:228073721..228075743,2	K562	blood:
2	chr1:228072840..228075835-chr1:228090417..228092515,2	K562	blood:
3	chr1:228072172..228075601-chr1:228081221..228085258,4	K562	blood:
4	chr1:228064722..228067770-chr1:228071905..228075743,3	K562	blood:
5	chr1:228073337..228075601-chr1:228082510..228084649,2	K562	blood:
6	chr1:228067787..228070478-chr1:228072728..228075273,4	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2313202	0.83[ASN][1000 genomes]
rs4074668	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55856451	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6686787	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73104847	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73104870	1.00[EUR][1000 genomes];0.97[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	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv873249	chr1:227920061-228121548	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1005852	chr1:227957099-228148363	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
7	nsv535319	chr1:227957099-228148363	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
8	nsv516409	chr1:228035131-228296745	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
10	nsv873250	chr1:228051234-228121548	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv873251	chr1:228051234-228160911	Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228070800-228074200	Enhancers	Esophagus	oesophagus
2	chr1:228071800-228074600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:228072200-228074200	Enhancers	Fetal Stomach	stomach
4	chr1:228072400-228074200	Enhancers	Thymus	Thymus
5	chr1:228072400-228074800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:228072400-228075200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr1:228072600-228074400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:228072600-228074400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:228072600-228074400	Enhancers	Fetal Muscle Leg	muscle
10	chr1:228072600-228075600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr1:228072800-228074600	Enhancers	Primary B cells from cord blood	blood
12	chr1:228073000-228074200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:228073000-228074200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr1:228073000-228074200	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr1:228073000-228074200	Enhancers	Fetal Thymus	thymus
16	chr1:228073000-228074200	Enhancers	Rectal Smooth Muscle	rectum
17	chr1:228073000-228074200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr1:228073000-228074200	Enhancers	A549	lung
19	chr1:228073000-228074400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr1:228073000-228074600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr1:228073000-228074600	Enhancers	Primary B cells from peripheral blood	blood
22	chr1:228073000-228074800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:228073000-228074800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:228073000-228075000	Enhancers	Spleen	Spleen
25	chr1:228073000-228075400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:228073000-228075400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:228073000-228075600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr1:228073000-228075800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr1:228073000-228075800	Enhancers	Placenta Amnion	Placenta Amnion
30	chr1:228073000-228076200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:228073000-228076400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:228073200-228074200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr1:228073200-228074200	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
34	chr1:228073200-228074200	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr1:228073200-228074200	Enhancers	Right Atrium	heart
36	chr1:228073200-228074400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:228073200-228074400	Flanking Active TSS	Colon Smooth Muscle	Colon
38	chr1:228073200-228074400	Enhancers	Placenta	Placenta
39	chr1:228073200-228074400	Enhancers	Ovary	ovary
40	chr1:228073200-228074600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:228073200-228074600	Enhancers	Brain Anterior Caudate	brain
42	chr1:228073200-228074600	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:228073200-228074600	Bivalent Enhancer	Fetal Intestine Large	intestine
44	chr1:228073200-228074800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:228073200-228074800	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr1:228073200-228075200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:228073200-228075200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:228073200-228075200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:228073200-228075200	Enhancers	NH-A	brain
50	chr1:228073200-228075400	Enhancers	Lung	lung

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