Variant report

Variant	rs1684149
Chromosome Location	chr12:32271340-32271341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:32266483..32268686-chr12:32270377..32273170,2	MCF-7	breast:
2	chr12:32270760..32273640-chr12:32274008..32276299,2	K562	blood:
3	chr12:32260830..32263543-chr12:32269172..32271594,2	MCF-7	breast:
4	chr12:32270889..32273201-chr12:32278383..32279888,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10743783	0.81[ASN][1000 genomes]
rs10771917	1.00[CHB][hapmap];0.84[CHD][hapmap];0.84[JPT][hapmap];0.85[MEX][hapmap];0.81[ASN][1000 genomes]
rs10771921	0.83[AMR][1000 genomes]
rs10844137	1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10844139	0.83[AMR][1000 genomes]
rs1143900	0.86[MEX][hapmap]
rs1143901	0.86[MEX][hapmap]
rs1151009	1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs1151010	1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs1151011	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1151012	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1151016	0.86[EUR][1000 genomes]
rs1151020	0.81[ASN][1000 genomes]
rs1151026	1.00[YRI][hapmap]
rs1151029	0.92[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap]
rs1260708	0.90[CEU][hapmap];0.85[GIH][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1261166	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1618256	0.81[CEU][hapmap];0.94[GIH][hapmap];0.86[MEX][hapmap];0.83[EUR][1000 genomes]
rs161961	1.00[ASW][hapmap];0.84[CHB][hapmap]
rs161962	0.84[CHB][hapmap]
rs1631036	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1673857	0.95[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1673858	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1684123	0.82[CEU][hapmap]
rs1684146	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1716937	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1716941	0.81[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.81[EUR][1000 genomes]
rs1798260	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1798265	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1809241	0.86[MEX][hapmap]
rs2458120	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2594013	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2594014	0.81[ASN][1000 genomes]
rs261905	0.84[CHB][hapmap]
rs2630566	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2630578	0.92[CHB][hapmap];0.80[CHD][hapmap];0.84[JPT][hapmap];0.85[MEX][hapmap]
rs2630579	0.92[CHB][hapmap];0.81[ASN][1000 genomes]
rs2652014	0.92[CHB][hapmap];0.84[JPT][hapmap];0.83[AMR][1000 genomes]
rs2652018	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2668293	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2668301	1.00[CHB][hapmap];0.81[CHD][hapmap];0.85[MEX][hapmap];0.81[ASN][1000 genomes]
rs2668302	0.92[CHB][hapmap];0.81[ASN][1000 genomes]
rs2668303	1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs2668306	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs2683474	0.81[CEU][hapmap]
rs2683491	0.80[EUR][1000 genomes]
rs326631	0.84[CHB][hapmap]
rs4931613	0.83[AMR][1000 genomes]
rs4931614	1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs4931615	0.92[CHB][hapmap];0.81[CHD][hapmap];0.84[JPT][hapmap];0.85[MEX][hapmap]
rs4931616	0.92[CHB][hapmap];0.81[CHD][hapmap];0.84[JPT][hapmap];0.85[MEX][hapmap];0.83[AMR][1000 genomes]
rs6488034	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers 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	41 gene(s)	inside rSNPs	diseases
2	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv976030	chr12:32153446-32307541	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv898969	chr12:32224948-32375677	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1042317	chr12:32228872-32316774	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1041733	chr12:32247427-32312547	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32261200-32277600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:32261200-32277600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:32261400-32273800	Weak transcription	Fetal Thymus	thymus
4	chr12:32262200-32271600	Weak transcription	Fetal Intestine Small	intestine
5	chr12:32262200-32273200	Weak transcription	Small Intestine	intestine
6	chr12:32262200-32275600	Weak transcription	Thymus	Thymus
7	chr12:32262400-32287400	Weak transcription	Primary T cells from cord blood	blood
8	chr12:32262400-32290200	Weak transcription	Primary B cells from cord blood	blood
9	chr12:32263200-32274000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:32263200-32287000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:32263600-32273200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:32264200-32272600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:32264400-32271600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:32268600-32271400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:32268600-32271600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:32268600-32271600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:32268800-32271800	Weak transcription	Left Ventricle	heart
18	chr12:32268800-32272000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:32268800-32272600	Weak transcription	Right Atrium	heart
20	chr12:32268800-32287200	Weak transcription	Lung	lung
21	chr12:32269000-32271400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:32269000-32271400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:32269000-32271600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:32269000-32271600	Weak transcription	Fetal Brain Female	brain
25	chr12:32269000-32271600	Weak transcription	Fetal Stomach	stomach
26	chr12:32269000-32271800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr12:32269000-32271800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:32269000-32271800	Weak transcription	Esophagus	oesophagus
29	chr12:32269000-32272400	Weak transcription	GM12878-XiMat	blood
30	chr12:32269000-32272800	Weak transcription	Fetal Muscle Leg	muscle
31	chr12:32269000-32273400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:32269000-32273400	Weak transcription	K562	blood
33	chr12:32269000-32277600	Weak transcription	Brain Substantia Nigra	brain
34	chr12:32269000-32277800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:32269000-32285400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr12:32269000-32286400	Weak transcription	Primary B cells from peripheral blood	blood
37	chr12:32269000-32286400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:32269000-32287400	Weak transcription	Aorta	Aorta
39	chr12:32269000-32287400	Weak transcription	Spleen	Spleen
40	chr12:32269000-32340200	Weak transcription	Dnd41	blood
41	chr12:32269200-32271600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:32269200-32271600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:32269200-32271600	Weak transcription	Fetal Heart	heart
44	chr12:32269200-32273400	Weak transcription	Brain Angular Gyrus	brain
45	chr12:32269200-32277400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr12:32269200-32287000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr12:32269200-32287200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr12:32269400-32271600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr12:32269400-32286800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:32269800-32271800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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