Variant report

Variant	rs587612651
Chromosome Location	chr1:144540318-144540319
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:144539250..144543417-chr1:149221777..149225328,4	MCF-7	breast:
2	chr1:144538349..144541013-chr1:144548761..144550305,2	K562	blood:
3	chr1:144538364..144541386-chr2:5768666..5771588,4	MCF-7	breast:
4	chr1:144538892..144541763-chr2:5768578..5771170,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206737	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003583	chr1:144007818-144543442	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	257 gene(s)	inside rSNPs	diseases
2	nsv1002681	chr1:144007818-144560590	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	257 gene(s)	inside rSNPs	diseases
3	nsv1012104	chr1:144007818-144682096	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	260 gene(s)	inside rSNPs	diseases
4	nsv1006330	chr1:144007818-144849544	Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	262 gene(s)	inside rSNPs	diseases
5	nsv1001989	chr1:144007818-144873327	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	265 gene(s)	inside rSNPs	diseases
6	nsv997949	chr1:144007818-144876884	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	265 gene(s)	inside rSNPs	diseases
7	nsv1010670	chr1:144007818-144880405	Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	265 gene(s)	inside rSNPs	diseases
8	nsv1010163	chr1:144007818-144884322	Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	265 gene(s)	inside rSNPs	diseases
9	nsv1014985	chr1:144007818-144949963	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
10	nsv1002373	chr1:144013582-144682096	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	258 gene(s)	inside rSNPs	diseases
11	nsv1007748	chr1:144015838-144682096	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	258 gene(s)	inside rSNPs	diseases
12	nsv524682	chr1:144034888-144617179	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	257 gene(s)	inside rSNPs	diseases
13	nsv1007246	chr1:144036737-144560590	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	255 gene(s)	inside rSNPs	diseases
14	nsv1006612	chr1:144050098-144560590	Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
15	esv1828275	chr1:144274482-145098718	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
16	esv2512286	chr1:144321887-144560360	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	251 gene(s)	inside rSNPs	diseases
17	nsv1014641	chr1:144337917-144880405	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
18	nsv998833	chr1:144337917-144885032	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
19	nsv1009682	chr1:144471974-144876884	Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS 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	255 gene(s)	inside rSNPs	diseases
20	nsv1008142	chr1:144471974-144880405	Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	255 gene(s)	inside rSNPs	diseases
21	nsv1001693	chr1:144471974-145290292	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	311 gene(s)	inside rSNPs	diseases
22	nsv831292	chr1:144506093-144613511	Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	248 gene(s)	inside rSNPs	diseases
23	nsv831303	chr1:144523643-144617215	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription 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	248 gene(s)	inside rSNPs	diseases
24	nsv946238	chr1:144538473-144565792	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
25	nsv946738	chr1:144539823-144545263	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144534400-144540400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:144537800-144542600	Weak transcription	Aorta	Aorta
3	chr1:144538400-144540400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:144538400-144541600	Enhancers	NH-A	brain
5	chr1:144538800-144541400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:144539200-144540600	Enhancers	Fetal Muscle Trunk	muscle
7	chr1:144539400-144540400	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr1:144539800-144540400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr1:144539800-144540400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:144539800-144540800	Weak transcription	Osteobl	bone
11	chr1:144539800-144541000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:144539800-144541000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:144540000-144540400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr1:144540000-144540400	Flanking Active TSS	HSMMtube	muscle
15	chr1:144540000-144540600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr1:144540000-144541000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:144540000-144541000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:144540000-144541200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:144540000-144541400	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr1:144540000-144541400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr1:144540000-144541400	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr1:144540000-144541800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:144540000-144543600	Weak transcription	HMEC	breast
24	chr1:144540000-144546800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:144540000-144546800	Weak transcription	Spleen	Spleen
26	chr1:144540200-144540600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:144540200-144540600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr1:144540200-144540600	Genic enhancers	HSMM	muscle
29	chr1:144540200-144540800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:144540200-144541200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:144540200-144541200	Weak transcription	NHLF	lung
32	chr1:144540200-144541400	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr1:144540200-144543800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:144540200-144544600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:144540200-144545600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:144540200-144546800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr1:144540200-144546800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr1:144540200-144546800	Weak transcription	K562	blood

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