Variant report

Variant	rs587743623
Chromosome Location	chr1:144016118-144016119
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:144010495..144012548-chr1:144014486..144017526,3	MCF-7	breast:
2	chr1:144007296..144010001-chr1:144014414..144016453,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:34 , 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
28	nsv1000552	chr1:144008574-144471989	Enhancers Weak transcription 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 miRNA target site	11 gene(s)	inside rSNPs	diseases
29	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
30	nsv1004786	chr1:144015838-144050927	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
31	nsv1002247	chr1:144015838-144067078	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
32	nsv1011338	chr1:144015838-144337917	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
33	nsv1004765	chr1:144015838-144471989	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
34	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144006400-144019400	Strong transcription	Primary T cells from cord blood	blood
2	chr1:144009000-144017600	Weak transcription	Colonic Mucosa	Colon
3	chr1:144010400-144019000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:144011600-144016400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:144012000-144019400	Strong transcription	Primary B cells from cord blood	blood
6	chr1:144012200-144017800	Strong transcription	Primary hematopoietic stem cells	blood
7	chr1:144012600-144020600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr1:144012800-144017000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:144012800-144017600	Strong transcription	Primary B cells from peripheral blood	blood
10	chr1:144013600-144016400	Genic enhancers	NHDF-Ad	bronchial
11	chr1:144013600-144016400	Genic enhancers	NHEK	skin
12	chr1:144013600-144016800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:144013600-144016800	Strong transcription	HepG2	liver
14	chr1:144013600-144017000	Strong transcription	GM12878-XiMat	blood
15	chr1:144013600-144017400	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr1:144013600-144017400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr1:144013600-144018800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr1:144013800-144016200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:144013800-144016200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:144013800-144016200	Genic enhancers	Aorta	Aorta
21	chr1:144013800-144016200	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:144013800-144016200	Strong transcription	Duodenum Mucosa	Duodenum
23	chr1:144013800-144016200	Strong transcription	Fetal Intestine Large	intestine
24	chr1:144013800-144016400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr1:144013800-144016400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:144013800-144016400	Strong transcription	Thymus	Thymus
27	chr1:144013800-144016600	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr1:144013800-144016600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:144013800-144016800	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr1:144013800-144016800	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:144013800-144016800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
32	chr1:144013800-144016800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:144013800-144016800	Strong transcription	Dnd41	blood
34	chr1:144013800-144017000	Strong transcription	Fetal Thymus	thymus
35	chr1:144013800-144017200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:144013800-144017400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:144013800-144017400	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:144013800-144017400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:144013800-144017400	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr1:144013800-144017400	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:144013800-144017400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:144013800-144017600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:144013800-144017600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:144013800-144017600	Strong transcription	Spleen	Spleen
45	chr1:144013800-144017800	Strong transcription	Liver	Liver
46	chr1:144013800-144017800	Strong transcription	Stomach Smooth Muscle	stomach
47	chr1:144013800-144018200	Strong transcription	Placenta	Placenta
48	chr1:144014000-144016200	Genic enhancers	Ovary	ovary
49	chr1:144014000-144016200	Strong transcription	Stomach Mucosa	stomach
50	chr1:144014000-144016400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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