Variant report

Variant	rs587759112
Chromosome Location	chr1:144008099-144008100
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:144007296..144010001-chr1:144014414..144016453,2	K562	blood:
2	chr1:144005794..144008523-chr1:144009105..144010733,2	K562	blood:
3	chr1:144006261..144009396-chr1:144011579..144015331,3	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003232	chr1:144007818-144038215	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1003402	chr1:144007818-144045290	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1012942	chr1:144007818-144050927	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1010411	chr1:144007818-144058996	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv547651	chr1:144007818-144062541	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1010181	chr1:144007818-144067078	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv2761652	chr1:144007818-144081043	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv2762186	chr1:144007818-144081043	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv831270	chr1:144007818-144085860	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv15133	chr1:144007818-144093322	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv3335611	chr1:144007818-144093473	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv3429846	chr1:144007818-144094735	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv946222	chr1:144007818-144095783	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	esv1826056	chr1:144007818-144275745	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
15	nsv1003536	chr1:144007818-144337917	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
16	nsv1008597	chr1:144007818-144337917	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
17	nsv1005946	chr1:144007818-144471989	Weak transcription Strong transcription Genic enhancers Enhancers 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 target site	11 gene(s)	inside rSNPs	diseases
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	nsv7947	chr1:144007893-144094293	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:143999200-144013800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr1:143999200-144013800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:143999200-144013800	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr1:143999200-144013800	Weak transcription	Dnd41	blood
5	chr1:143999200-144014000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:144001600-144009600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:144002800-144013600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:144003800-144013800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:144005000-144008800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:144005200-144008600	Strong transcription	Primary B cells from cord blood	blood
11	chr1:144005600-144008200	Weak transcription	Esophagus	oesophagus
12	chr1:144005600-144010400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr1:144005800-144008800	Weak transcription	Fetal Intestine Small	intestine
14	chr1:144005800-144009600	Weak transcription	Fetal Intestine Large	intestine
15	chr1:144006400-144015600	Genic enhancers	Fetal Muscle Leg	muscle
16	chr1:144006400-144019400	Strong transcription	Primary T cells from cord blood	blood
17	chr1:144006600-144008200	Genic enhancers	HepG2	liver
18	chr1:144006600-144008600	Enhancers	Brain Germinal Matrix	brain
19	chr1:144006600-144009200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:144006600-144010200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr1:144006600-144010600	Enhancers	Placenta	Placenta
22	chr1:144006600-144011400	Enhancers	Left Ventricle	heart
23	chr1:144006600-144011400	Enhancers	Ovary	ovary
24	chr1:144006600-144013200	Enhancers	Spleen	Spleen
25	chr1:144006600-144014200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:144006800-144008200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:144006800-144008200	Enhancers	NHDF-Ad	bronchial
28	chr1:144006800-144008400	Enhancers	Fetal Brain Female	brain
29	chr1:144006800-144009000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:144006800-144009600	Enhancers	Brain Cingulate Gyrus	brain
31	chr1:144006800-144009600	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr1:144006800-144009800	Enhancers	NHLF	lung
33	chr1:144006800-144010400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:144006800-144011000	Enhancers	K562	blood
35	chr1:144006800-144011400	Enhancers	Lung	lung
36	chr1:144006800-144012200	Enhancers	HUVEC	blood vessel
37	chr1:144006800-144013200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:144006800-144013600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:144006800-144013800	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr1:144006800-144014000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:144006800-144015200	Enhancers	Right Atrium	heart
42	chr1:144007000-144008200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:144007000-144009000	Enhancers	Fetal Muscle Trunk	muscle
44	chr1:144007200-144008200	Weak transcription	Pancreas	Pancrea
45	chr1:144007200-144008400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:144007200-144008800	Enhancers	Fetal Kidney	kidney
47	chr1:144007200-144009600	Enhancers	Brain Substantia Nigra	brain
48	chr1:144007200-144013000	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr1:144007200-144013800	Enhancers	Placenta Amnion	Placenta Amnion
50	chr1:144007400-144008200	Genic enhancers	HSMMtube	muscle

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