Variant report

Variant	rs559114758
Chromosome Location	chr12:50355432-50355433
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr12:50355353-50355509	H1-hESC	embryonic stem cell:	n/a	n/a
2	GABPA	chr12:50355136-50355444	H1-hESC	embryonic stem cell:	n/a	n/a
3	USF1	chr12:50355340-50355496	GM12878	blood:	n/a	n/a
4	MAX	chr12:50355245-50355513	H1-hESC	embryonic stem cell:	n/a	n/a
5	USF1	chr12:50355245-50355492	SK-N-SH_RA	brain:	n/a	n/a
6	E2F6	chr12:50355084-50355660	H1-hESC	embryonic stem cell:	n/a	n/a
7	SUZ12	chr12:50354404-50355991	NT2-D1	testis:	n/a	n/a
8	USF1	chr12:50355192-50355505	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr12:50355069-50355604	H1-hESC	embryonic stem cell:	n/a	n/a
10	USF1	chr12:50355218-50355566	SK-N-SH_RA	brain:	n/a	chr12:50355512-50355528
11	MAX	chr12:50355155-50355579	H1-hESC	embryonic stem cell:	n/a	n/a
12	E2F6	chr12:50355020-50355563	H1-hESC	embryonic stem cell:	n/a	n/a
13	USF2	chr12:50355246-50355581	H1-hESC	embryonic stem cell:	n/a	chr12:50355512-50355528
14	USF1	chr12:50355141-50355572	H1-hESC	embryonic stem cell:	n/a	chr12:50355512-50355528

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50353765..50356841-chr12:50356981..50360242,4	MCF-7	breast:

Variant related genes	Relation type
AQP5	TF binding region
ENSG00000161798	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv832407	chr12:50243268-50412236	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv558835	chr12:50275137-50433234	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv899072	chr12:50326176-50379667	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv899073	chr12:50335628-50360461	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	esv1802978	chr12:50341465-50355864	Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	esv1847541	chr12:50341465-50355864	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	esv1851851	chr12:50341610-50355864	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	esv1826205	chr12:50344955-50355535	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	esv1836037	chr12:50344955-50355535	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	esv1800078	chr12:50344955-50355665	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	esv1831333	chr12:50344955-50355665	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	esv1835074	chr12:50344955-50355665	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	esv1818774	chr12:50344976-50355535	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	esv1845392	chr12:50344976-50355665	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	esv1839641	chr12:50344976-50355864	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
20	nsv899074	chr12:50344976-50360461	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
21	esv1820704	chr12:50347938-50355535	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
22	esv1835547	chr12:50347938-50355535	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
23	esv1841251	chr12:50347938-50355535	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
24	esv1848606	chr12:50347938-50355535	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
25	esv1795192	chr12:50347938-50355665	Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
26	esv1797115	chr12:50347938-50355665	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
27	esv1805463	chr12:50347938-50355665	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
28	esv1812643	chr12:50347938-50355665	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
29	esv1816621	chr12:50347938-50355665	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
30	esv1850188	chr12:50347938-50355665	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
31	esv1815472	chr12:50347938-50355834	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
32	esv1819184	chr12:50347938-50355834	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
33	esv1828759	chr12:50349765-50366300	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
34	esv1827130	chr12:50349765-50379667	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
35	nsv469374	chr12:50349765-50467769	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
36	nsv469375	chr12:50349765-50467769	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers 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 miRNA target site	28 gene(s)	inside rSNPs	diseases
37	nsv558837	chr12:50349765-50467769	Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
38	nsv523899	chr12:50354437-50366300	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
39	esv16085	chr12:50355200-50355978	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
40	nsv558838	chr12:50355329-50358054	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
41	nsv558839	chr12:50355381-50358468	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50353000-50357400	Enhancers	HMEC	breast
2	chr12:50353400-50357400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:50353600-50357200	Bivalent Enhancer	Fetal Intestine Small	intestine
4	chr12:50353600-50358400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr12:50354000-50356200	Bivalent Enhancer	Spleen	Spleen
6	chr12:50354400-50355800	Bivalent Enhancer	Small Intestine	intestine
7	chr12:50354600-50355800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr12:50354600-50356000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr12:50354600-50356400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:50354800-50355600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:50354800-50355600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:50354800-50356000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr12:50354800-50356000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr12:50354800-50356000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr12:50354800-50356200	Weak transcription	A549	lung
16	chr12:50354800-50356200	Weak transcription	HSMMtube	muscle
17	chr12:50354800-50356400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:50354800-50356400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
19	chr12:50354800-50357000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr12:50355000-50355600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:50355000-50355600	Active TSS	Aorta	Aorta
22	chr12:50355000-50355600	Flanking Active TSS	Left Ventricle	heart
23	chr12:50355000-50355600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
24	chr12:50355000-50355800	Active TSS	Right Atrium	heart
25	chr12:50355000-50355800	Enhancers	Hela-S3	cervix
26	chr12:50355000-50356000	Flanking Active TSS	Ovary	ovary
27	chr12:50355200-50355600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:50355200-50355600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
29	chr12:50355200-50355600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:50355200-50355600	Active TSS	Brain Cingulate Gyrus	brain
31	chr12:50355200-50355600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
32	chr12:50355200-50355600	Bivalent/Poised TSS	Thymus	Thymus
33	chr12:50355200-50355800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:50355200-50355800	Active TSS	Esophagus	oesophagus
35	chr12:50355200-50355800	Active TSS	HSMM	muscle
36	chr12:50355200-50356000	Active TSS	H9 Cell Line	embryonic stem cell
37	chr12:50355200-50356000	Weak transcription	Gastric	stomach
38	chr12:50355200-50356400	Weak transcription	Liver	Liver
39	chr12:50355400-50355600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:50355400-50355600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:50355400-50355600	Bivalent/Poised TSS	Colonic Mucosa	Colon
42	chr12:50355400-50355600	Active TSS	Fetal Brain Female	brain
43	chr12:50355400-50355600	Active TSS	HUVEC	blood vessel
44	chr12:50355400-50355800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
45	chr12:50355400-50355800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:50355400-50355800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:50355400-50355800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:50355400-50355800	Bivalent Enhancer	Brain Germinal Matrix	brain
49	chr12:50355400-50355800	Bivalent/Poised TSS	Psoas Muscle	Psoas
50	chr12:50355400-50355800	Active TSS	Right Ventricle	heart

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