Variant report

Variant	rs12473610
Chromosome Location	chr2:213192198-213192199
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:213169267..213171740-chr2:213191721..213193864,2	MCF-7	breast:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12468487	1.00[CHB][hapmap]
rs16848137	1.00[CEU][hapmap]
rs16848312	0.80[CEU][hapmap]
rs2135161	0.80[CEU][hapmap]
rs4673659	0.91[CEU][hapmap]
rs7562176	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7562328	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7562363	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7562365	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7562445	1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7562782	0.91[CEU][hapmap];0.86[YRI][hapmap]
rs7601515	0.91[CEU][hapmap]
rs905879	0.91[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875806	chr2:212997024-213211067	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1006051	chr2:213052804-213273642	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv584346	chr2:213067749-213258622	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv998615	chr2:213081893-213202228	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	nsv536139	chr2:213081893-213202228	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv834526	chr2:213114901-213237146	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv834527	chr2:213115966-213334308	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
8	nsv460075	chr2:213117976-213192660	Bivalent Enhancer Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	nsv584348	chr2:213117976-213192660	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
10	nsv584349	chr2:213117976-213200920	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	nsv875809	chr2:213122718-213221111	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
12	nsv460078	chr2:213130571-213192660	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
13	nsv584352	chr2:213130571-213192660	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
14	nsv875810	chr2:213136747-213200920	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
15	nsv460079	chr2:213136747-213209659	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
16	nsv584354	chr2:213136747-213209659	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
17	nsv584355	chr2:213136747-213211067	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
18	nsv1014680	chr2:213142147-213301614	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
19	nsv584359	chr2:213155534-213192660	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
20	nsv584360	chr2:213155534-213200920	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
21	nsv584361	chr2:213155534-213209659	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
22	nsv1010294	chr2:213162156-213194322	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
23	nsv1014565	chr2:213164466-213194322	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
24	nsv460083	chr2:213164837-213192660	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
25	nsv460085	chr2:213164837-213192660	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
26	nsv584362	chr2:213164837-213192660	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
27	nsv460086	chr2:213164837-213209659	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
28	nsv584363	chr2:213164837-213209659	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
29	nsv460087	chr2:213165193-213192660	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
30	nsv460088	chr2:213165193-213192660	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
31	nsv584365	chr2:213165193-213192660	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
32	nsv460089	chr2:213165193-213200920	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
33	nsv584366	chr2:213165193-213200920	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
34	nsv584367	chr2:213165193-213211349	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
35	nsv460090	chr2:213165193-213215076	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
36	nsv584368	chr2:213165193-213215076	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
37	nsv460091	chr2:213165193-213219281	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
38	nsv584369	chr2:213165193-213219281	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
39	nsv460092	chr2:213165193-213222446	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
40	nsv584370	chr2:213165193-213222446	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
41	nsv1006327	chr2:213174996-213209495	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
42	esv2763176	chr2:213178324-213194322	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
43	nsv1003776	chr2:213181315-213194322	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
44	nsv10218	chr2:213183409-213192660	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
45	esv3459096	chr2:213183594-213192328	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
46	nsv511166	chr2:213183696-213192198	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
47	nsv516174	chr2:213183696-213192660	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
48	esv1814053	chr2:213183696-213207306	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
49	nsv584392	chr2:213184822-213192660	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
50	nsv584393	chr2:213184822-213200920	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213168800-213197200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:213181200-213195000	Weak transcription	Psoas Muscle	Psoas
3	chr2:213183200-213194200	Weak transcription	Fetal Heart	heart
4	chr2:213189000-213194800	Weak transcription	Aorta	Aorta
5	chr2:213190600-213194800	Weak transcription	Fetal Kidney	kidney
6	chr2:213191600-213192200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:213192000-213192200	Enhancers	Fetal Lung	lung
8	chr2:213192000-213192200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr2:213192000-213192400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:213192000-213192400	Enhancers	A549	lung
11	chr2:213192000-213193000	Enhancers	Fetal Intestine Large	intestine
12	chr2:213192000-213193000	Enhancers	HepG2	liver

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