Variant report

Variant	rs12214573
Chromosome Location	chr6:143184898-143184899
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	chr6:143142977..143144886-chr6:143184382..143186029,2	MCF-7	breast:
2	chr6:143169186..143172085-chr6:143184516..143186851,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11155265	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11969311	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12190015	0.82[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs12190804	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12192692	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12194338	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12194808	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12196693	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12199711	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12201734	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12201987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12203708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12205948	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12206012	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12208876	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12210048	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12210301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17444447	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs198661	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2142938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2184364	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2876528	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4349826	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4492208	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62430707	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62430709	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62430712	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62430713	0.90[EUR][1000 genomes]
rs62432360	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62432362	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6905453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6910072	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6912129	0.85[CEU][hapmap]
rs6925118	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6927858	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs728589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72990282	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72995085	0.92[EUR][1000 genomes]
rs7758383	0.86[ASN][1000 genomes]
rs972119	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs998313	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830829	chr6:143058408-143218077	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv538459	chr6:143165802-143360098	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv3383956	chr6:143182909-143185432	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3400674	chr6:143183159-143184907	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143168400-143188600	Weak transcription	Aorta	Aorta
2	chr6:143173200-143188600	Weak transcription	Fetal Intestine Small	intestine
3	chr6:143173600-143188200	Weak transcription	NHLF	lung
4	chr6:143175400-143185200	Weak transcription	Right Atrium	heart
5	chr6:143175600-143192000	Weak transcription	NHEK	skin
6	chr6:143175600-143192200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr6:143175600-143192800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:143176200-143185000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:143176600-143185200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:143176600-143186800	Weak transcription	Esophagus	oesophagus
11	chr6:143176600-143188200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr6:143176600-143192400	Weak transcription	NHDF-Ad	bronchial
13	chr6:143177000-143192200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:143177800-143185000	Weak transcription	Fetal Kidney	kidney
15	chr6:143178200-143192800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr6:143179400-143186000	Weak transcription	Brain Germinal Matrix	brain
17	chr6:143179400-143188400	Weak transcription	Brain Hippocampus Middle	brain
18	chr6:143179600-143185200	Weak transcription	Brain Anterior Caudate	brain
19	chr6:143179600-143185200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr6:143179600-143185200	Weak transcription	Left Ventricle	heart
21	chr6:143179600-143185200	Weak transcription	Pancreas	Pancrea
22	chr6:143179600-143187000	Weak transcription	Fetal Stomach	stomach
23	chr6:143179600-143187800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr6:143179600-143188000	Weak transcription	HSMMtube	muscle
25	chr6:143179600-143188600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:143179600-143188600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:143179600-143189200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr6:143179600-143191200	Weak transcription	Fetal Muscle Leg	muscle
29	chr6:143179600-143195000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:143179600-143195800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:143179800-143188000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:143180600-143188600	Weak transcription	Fetal Thymus	thymus
33	chr6:143180600-143193000	Weak transcription	Thymus	Thymus
34	chr6:143180800-143186600	Weak transcription	Primary B cells from cord blood	blood
35	chr6:143182000-143185000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr6:143182200-143192800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:143182400-143188400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:143182800-143188200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr6:143183200-143185000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:143183200-143185000	Weak transcription	Small Intestine	intestine
41	chr6:143183200-143185200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr6:143183200-143185200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr6:143183200-143191200	Weak transcription	Right Ventricle	heart
44	chr6:143183400-143187000	Weak transcription	Colon Smooth Muscle	Colon
45	chr6:143183400-143187400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr6:143183400-143188400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr6:143183400-143188400	Weak transcription	GM12878-XiMat	blood
48	chr6:143184400-143188400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr6:143184400-143189000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr6:143184600-143185800	Enhancers	Primary T helper cells PMA-I stimulated	--

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