Variant report

Variant	rs587606197
Chromosome Location	chr1:144539393-144539394
allele	G/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	chr1:144538903..144539892-chr2:5769586..5770994,3	MCF-7	breast:
5	chr1:144538892..144541763-chr2:5768578..5771170,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206737	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 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

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144534400-144539400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:144534400-144539400	Weak transcription	Right Ventricle	heart
3	chr1:144534400-144540400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:144534600-144539600	Enhancers	NHEK	skin
5	chr1:144535000-144540000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:144535000-144540200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:144535200-144539600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:144535400-144539800	Enhancers	Osteobl	bone
9	chr1:144536000-144539400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:144537000-144539400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:144537000-144539400	Enhancers	Fetal Muscle Leg	muscle
12	chr1:144537000-144539600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:144537000-144540000	Enhancers	Fetal Thymus	thymus
14	chr1:144537000-144540200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:144537200-144539400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:144537200-144540200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:144537200-144540200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:144537600-144540200	Enhancers	Fetal Heart	heart
19	chr1:144537800-144539400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr1:144537800-144539400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:144537800-144539400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:144537800-144539400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:144537800-144539400	Enhancers	Fetal Lung	lung
24	chr1:144537800-144542600	Weak transcription	Aorta	Aorta
25	chr1:144538000-144539400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:144538000-144539400	Genic enhancers	HSMM	muscle
27	chr1:144538000-144539400	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr1:144538000-144540000	Enhancers	HMEC	breast
29	chr1:144538400-144539400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:144538400-144539400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:144538400-144539600	Enhancers	NHLF	lung
32	chr1:144538400-144540400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:144538400-144541600	Enhancers	NH-A	brain
34	chr1:144538600-144539400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr1:144538600-144539400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
36	chr1:144538600-144539400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr1:144538600-144539600	Enhancers	Placenta	Placenta
38	chr1:144538600-144539800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr1:144538600-144539800	Enhancers	Brain Anterior Caudate	brain
40	chr1:144538600-144540000	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr1:144538600-144540000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr1:144538600-144540000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr1:144538600-144540000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr1:144538600-144540200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr1:144538800-144539400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr1:144538800-144539400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr1:144538800-144539400	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr1:144538800-144539400	Flanking Active TSS	HSMMtube	muscle
49	chr1:144538800-144539600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr1:144538800-144539600	Enhancers	Spleen	Spleen

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