Variant report

Variant	rs554199397
Chromosome Location	chr2:180068757-180068758
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:180065428..180068289-chr2:180068662..180070588,2	K562	blood:
2	chr2:180068360..180070223-chr2:180071616..180074057,2	K562	blood:

Extended variants
information (count: 119 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1004693	chr2:179933683-180265288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv834471	chr2:179974303-180123027	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv1807721	chr2:180024167-180076733	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1826248	chr2:180056341-180072860	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1842731	chr2:180056341-180076733	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv511167	chr2:180056341-180076733	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv3061	chr2:180057194-180095718	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv820056	chr2:180058961-180070761	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv14990	chr2:180060110-180083212	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv821830	chr2:180060110-180083212	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv2427556	chr2:180060320-180083338	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv989936	chr2:180061191-180081622	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv820485	chr2:180061742-180082989	ZNF genes & repeats Enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv3407532	chr2:180064607-180082605	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv3460367	chr2:180064707-180077505	ZNF genes & repeats Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv3460368	chr2:180064707-180077505	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv511828	chr2:180064791-180082082	Enhancers ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv3490930	chr2:180065325-180082779	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
20	esv3490931	chr2:180065325-180082779	ZNF genes & repeats Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv436303	chr2:180065337-180083364	Enhancers ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv498948	chr2:180065450-180081689	Enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
23	esv3365067	chr2:180065482-180082480	ZNF genes & repeats Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
24	esv3457155	chr2:180065732-180073580	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
25	esv3457156	chr2:180065732-180073580	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
26	esv21265	chr2:180066730-180081432	ZNF genes & repeats Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
27	esv2422030	chr2:180067192-180079144	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
28	nsv442840	chr2:180067192-180079144	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
29	esv20459	chr2:180067718-180072888	ZNF genes & repeats Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
30	nsv583757	chr2:180068214-180069678	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv583758	chr2:180068214-180069846	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv583759	chr2:180068214-180069902	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
33	nsv583760	chr2:180068214-180070039	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
34	nsv583761	chr2:180068214-180070095	ZNF genes & repeats Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
35	nsv583762	chr2:180068214-180070219	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
36	nsv583763	chr2:180068214-180070223	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
37	nsv583764	chr2:180068214-180070272	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
38	nsv583765	chr2:180068214-180070332	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
39	nsv583766	chr2:180068214-180070574	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
40	nsv583767	chr2:180068214-180070581	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
41	esv1804707	chr2:180068214-180070829	Strong transcription ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
42	esv1805445	chr2:180068214-180070829	Enhancers ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
43	esv1805832	chr2:180068214-180070829	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
44	esv1810264	chr2:180068214-180070829	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
45	esv1812713	chr2:180068214-180070829	ZNF genes & repeats Enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
46	esv1813694	chr2:180068214-180070829	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
47	nsv583768	chr2:180068214-180070829	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
48	esv1809225	chr2:180068214-180071606	Enhancers Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
49	esv1809845	chr2:180068214-180071606	ZNF genes & repeats Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
50	esv1810002	chr2:180068214-180071606	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180066800-180068800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr2:180067000-180069200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:180067200-180068800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:180067600-180097600	Weak transcription	Primary B cells from cord blood	blood
5	chr2:180067600-180104600	Weak transcription	Fetal Kidney	kidney
6	chr2:180067800-180068800	ZNF genes & repeats	Fetal Intestine Small	intestine
7	chr2:180068000-180071000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:180068000-180071400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:180068000-180103800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:180068400-180069200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr2:180068400-180069800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:180068400-180092800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:180068600-180071200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:180068600-180071200	Weak transcription	Fetal Stomach	stomach

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