Variant report

Variant	rs208284
Chromosome Location	chr12:121563016-121563017
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121562465..121564050-chr12:121566966..121568974,2	MCF-7	breast:
2	chr12:121561837..121563360-chr12:121583686..121585355,2	K562	blood:
3	chr12:121561171..121566774-chr12:121646455..121649214,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135124	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11065434	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11065442	0.96[ASN][1000 genomes]
rs1180011	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1180012	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1180015	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1183296	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1185268	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs169631	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs169632	0.92[ASN][1000 genomes]
rs169633	0.89[ASN][1000 genomes]
rs1794897	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1796422	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs183283	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs189989	0.87[ASN][1000 genomes]
rs208277	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs208280	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs208287	0.91[ASN][1000 genomes]
rs208290	0.91[ASN][1000 genomes]
rs2263271	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2393799	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2686352	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs500930	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs501167	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs570984	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs575572	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs582315	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs591874	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs636719	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs656612	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs665794	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs671684	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs676262	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs685019	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7309886	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv899562	chr12:121376416-121565870	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv2758318	chr12:121415845-121584813	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	esv2759917	chr12:121415845-121584813	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv832531	chr12:121440495-121604232	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv430537	chr12:121487632-121579955	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv899563	chr12:121543011-121600529	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121555400-121565800	Weak transcription	Gastric	stomach
2	chr12:121559000-121563600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:121559600-121564000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:121561000-121563200	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr12:121561000-121563400	Enhancers	Placenta	Placenta
6	chr12:121561400-121563200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:121561400-121565800	Enhancers	HepG2	liver
8	chr12:121561600-121566200	Weak transcription	Thymus	Thymus
9	chr12:121562200-121564000	Weak transcription	Liver	Liver
10	chr12:121562200-121566000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr12:121562200-121566000	Weak transcription	K562	blood
12	chr12:121562200-121566600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:121562400-121565800	Weak transcription	Fetal Thymus	thymus
14	chr12:121562400-121566800	Enhancers	Primary hematopoietic stem cells	blood
15	chr12:121562400-121570600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:121562600-121563200	Enhancers	Left Ventricle	heart
17	chr12:121562600-121563600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:121562600-121565800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:121562600-121565800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr12:121562600-121566000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr12:121562600-121566400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:121562600-121566600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr12:121562600-121566600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:121562600-121566800	Weak transcription	A549	lung
25	chr12:121562800-121564000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:121562800-121564000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:121562800-121565000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:121562800-121565400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:121562800-121565600	Weak transcription	Primary T cells from cord blood	blood
30	chr12:121562800-121566000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr12:121562800-121566000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:121562800-121566000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr12:121562800-121566000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:121562800-121566000	Weak transcription	HUVEC	blood vessel
35	chr12:121562800-121566200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr12:121562800-121566800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:121562800-121566800	Weak transcription	Fetal Heart	heart
38	chr12:121562800-121569200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:121562800-121570400	Weak transcription	Ovary	ovary
40	chr12:121563000-121565000	Weak transcription	Stomach Mucosa	stomach
41	chr12:121563000-121566800	Weak transcription	NHEK	skin
42	chr12:121563000-121569400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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