Variant report

Variant	rs1979325
Chromosome Location	chr12:57121936-57121937
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57117154..57122230-chr12:57122473..57127950,8	K562	blood:
2	chr12:57035906..57041425-chr12:57115344..57122353,14	K562	blood:
3	chr12:57080547..57083447-chr12:57121036..57123341,2	MCF-7	breast:
4	chr12:57079647..57082047-chr12:57121601..57124590,3	MCF-7	breast:
5	chr12:57117044..57122605-chr12:57141917..57149366,15	K562	blood:

Variant related genes	Relation type
ENSG00000025423	Chromatin interaction
ENSG00000196531	Chromatin interaction
ENSG00000110958	Chromatin interaction
ENSG00000198056	Chromatin interaction
ENSG00000207031	Chromatin interaction
ENSG00000110955	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1026565	0.93[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs10459246	0.82[ASN][1000 genomes]
rs10459247	0.83[CEU][hapmap]
rs10747770	0.89[ASN][1000 genomes]
rs10783796	0.97[ASN][1000 genomes]
rs10876914	0.81[AMR][1000 genomes]
rs10876915	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10876916	0.94[CHB][hapmap]
rs10876918	0.94[ASN][1000 genomes]
rs1107479	0.93[CHB][hapmap]
rs11171914	0.93[CHB][hapmap]
rs11171917	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11171951	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs11171956	0.95[ASN][1000 genomes]
rs11171986	0.86[JPT][hapmap]
rs1131514	0.94[ASN][1000 genomes]
rs11837319	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12227117	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12229457	0.94[CHB][hapmap]
rs12828563	0.96[ASN][1000 genomes]
rs1465081	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1466382	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs1563896	0.88[CHB][hapmap];0.80[ASN][1000 genomes]
rs1563897	0.80[ASN][1000 genomes]
rs1975875	0.94[ASN][1000 genomes]
rs2035081	0.93[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs2035082	0.97[ASN][1000 genomes]
rs2255074	0.93[CHB][hapmap]
rs2290893	0.93[CHB][hapmap]
rs2290894	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs2926741	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs2926743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2926747	0.93[ASN][1000 genomes]
rs2926748	0.97[ASN][1000 genomes]
rs2950387	0.80[CHB][hapmap]
rs2950390	0.93[CHB][hapmap]
rs2958123	0.94[CHB][hapmap]
rs2958127	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs2958130	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2958132	0.94[ASN][1000 genomes]
rs2958134	0.87[ASN][1000 genomes]
rs2958145	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2958148	0.95[ASN][1000 genomes]
rs2958149	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2958153	1.00[CEU][hapmap];0.93[CHB][hapmap];0.85[YRI][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2958154	0.93[CHB][hapmap]
rs2958155	0.93[CHB][hapmap]
rs3214051	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs4277148	0.85[JPT][hapmap]
rs4759254	0.81[CEU][hapmap];0.83[CHB][hapmap]
rs4759256	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4788	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4902	0.97[ASN][1000 genomes]
rs67046307	0.81[AMR][1000 genomes]
rs7137749	0.90[ASN][1000 genomes]
rs7295862	0.81[ASN][1000 genomes]
rs7309526	0.82[AMR][1000 genomes]
rs7313074	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7315472	0.81[AMR][1000 genomes]
rs7966391	0.91[ASN][1000 genomes]
rs7967600	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7978685	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7980317	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7980378	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs898609	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs898611	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs941207	0.81[CEU][hapmap];0.87[CHB][hapmap]
rs9634246	1.00[CEU][hapmap];0.93[CHB][hapmap];0.85[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1794914	chr12:57119236-57195379	Active TSS Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57119200-57127400	Weak transcription	Spleen	Spleen
2	chr12:57119200-57130400	Weak transcription	Gastric	stomach
3	chr12:57119400-57129000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:57119400-57130600	Weak transcription	Small Intestine	intestine
5	chr12:57119400-57134000	Weak transcription	Esophagus	oesophagus
6	chr12:57119400-57138000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:57119400-57145000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:57119600-57122400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:57119600-57122400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:57119600-57125000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:57119600-57125200	Weak transcription	Brain Germinal Matrix	brain
12	chr12:57119600-57128800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:57119600-57129000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:57119600-57130600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:57119600-57130600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:57119600-57130600	Weak transcription	Lung	lung
17	chr12:57119600-57130600	Weak transcription	Pancreas	Pancrea
18	chr12:57119800-57122000	Weak transcription	Fetal Brain Female	brain
19	chr12:57119800-57122400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:57119800-57122400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:57119800-57123200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:57119800-57123200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:57119800-57123600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr12:57119800-57125400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr12:57119800-57128800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:57119800-57130400	Weak transcription	Ovary	ovary
27	chr12:57119800-57131800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr12:57119800-57134000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:57119800-57134000	Weak transcription	Left Ventricle	heart
30	chr12:57119800-57144600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr12:57119800-57144800	Weak transcription	NHLF	lung
32	chr12:57119800-57145000	Weak transcription	Colonic Mucosa	Colon
33	chr12:57119800-57145000	Weak transcription	Right Ventricle	heart
34	chr12:57120000-57122000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:57120000-57122000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:57120000-57122200	Weak transcription	Fetal Thymus	thymus
37	chr12:57120000-57122400	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr12:57120000-57122400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr12:57120000-57122400	Weak transcription	Fetal Intestine Small	intestine
40	chr12:57120000-57123000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr12:57120000-57123200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:57120000-57123600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:57120000-57124000	Weak transcription	Adipose Nuclei	Adipose
44	chr12:57120000-57124400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr12:57120000-57124600	Weak transcription	A549	lung
46	chr12:57120000-57124800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:57120000-57124800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:57120000-57124800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr12:57120000-57125200	Weak transcription	GM12878-XiMat	blood
50	chr12:57120000-57125400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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