Variant report

Variant	rs4072142
Chromosome Location	chr6:121635771-121635772
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	chr6:121634382..121637140-chr6:121639253..121640761,2	K562	blood:
2	chr6:121634384..121637118-chr6:121723532..121726369,2	MCF-7	breast:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10428866	1.00[CEU][hapmap]
rs1273715	0.85[CHB][hapmap]
rs1273719	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1273721	0.85[CHB][hapmap]
rs1273722	0.85[CHB][hapmap]
rs1273725	0.85[CHB][hapmap]
rs1273726	0.85[CHB][hapmap]
rs1273733	0.85[CHB][hapmap]
rs1273745	0.85[CHB][hapmap]
rs1273748	0.85[CHB][hapmap]
rs1273765	1.00[CEU][hapmap]
rs17083190	0.85[CHB][hapmap]
rs17083373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083440	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17154	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1776810	1.00[CEU][hapmap]
rs1776817	0.85[CHB][hapmap]
rs2133990	1.00[ASN][1000 genomes]
rs2133991	1.00[CEU][hapmap]
rs2186097	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2455056	0.85[CHB][hapmap]
rs2892765	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2995680	0.85[CHB][hapmap]
rs4132315	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4305755	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4371872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4584021	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4610600	1.00[CEU][hapmap]
rs4946563	1.00[CEU][hapmap]
rs55731091	0.94[ASN][1000 genomes]
rs55799213	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55983388	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56000113	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56927912	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58124381	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61047660	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61293964	1.00[ASN][1000 genomes]
rs6569180	1.00[CEU][hapmap]
rs6903467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6919916	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6920055	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920884	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6925413	1.00[ASN][1000 genomes]
rs6941089	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.92[TSI][hapmap];0.80[YRI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73526695	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73528541	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73768932	1.00[ASN][1000 genomes]
rs73768938	1.00[ASN][1000 genomes]
rs7451033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7741356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7742071	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7743455	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7744891	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7749984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7751636	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7755977	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7757350	1.00[EUR][1000 genomes]
rs7759798	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7761551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7765795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7767417	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7767455	1.00[CEU][hapmap]
rs7768813	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs785400	1.00[CEU][hapmap]
rs785407	1.00[CEU][hapmap]
rs905023	0.85[CHB][hapmap]
rs9320802	1.00[CEU][hapmap]
rs9387926	1.00[CEU][hapmap]
rs9401378	1.00[CEU][hapmap]
rs9490136	1.00[CEU][hapmap]
rs9490148	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9490149	1.00[CEU][hapmap]
rs9490164	0.84[TSI][hapmap]
rs975679	0.85[CHB][hapmap]

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	nsv1023384	chr6:121235867-121683448	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv530527	chr6:121298528-121789855	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv830789	chr6:121581450-121732320	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1017944	chr6:121600538-121644362	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121586400-121655000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr6:121588400-121655200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr6:121588800-121642000	Weak transcription	Left Ventricle	heart
4	chr6:121589000-121637600	Weak transcription	Ovary	ovary
5	chr6:121589000-121654200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:121589200-121655000	Weak transcription	Fetal Stomach	stomach
7	chr6:121594200-121654800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:121602600-121637800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:121604000-121645200	Weak transcription	Fetal Kidney	kidney
10	chr6:121604400-121642000	Weak transcription	Primary B cells from cord blood	blood
11	chr6:121604800-121653000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr6:121606600-121655000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr6:121611000-121640400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr6:121611200-121655000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:121612600-121637600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr6:121613200-121637600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:121613400-121640400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr6:121614200-121640400	Weak transcription	Brain Hippocampus Middle	brain
19	chr6:121615600-121655000	Weak transcription	Pancreas	Pancrea
20	chr6:121616200-121655000	Weak transcription	Fetal Muscle Leg	muscle
21	chr6:121617200-121651600	Weak transcription	GM12878-XiMat	blood
22	chr6:121619000-121640400	Weak transcription	Brain Anterior Caudate	brain
23	chr6:121620200-121640400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr6:121622200-121654600	Weak transcription	Fetal Thymus	thymus
25	chr6:121622600-121655000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:121622800-121640400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:121622800-121654800	Weak transcription	Brain Germinal Matrix	brain
28	chr6:121624200-121644800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr6:121628200-121640400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr6:121629800-121648400	Weak transcription	Brain Substantia Nigra	brain
31	chr6:121630600-121651600	Weak transcription	K562	blood
32	chr6:121630800-121636400	Weak transcription	Thymus	Thymus
33	chr6:121631800-121644800	Weak transcription	HSMMtube	muscle
34	chr6:121632000-121640400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:121632000-121640400	Weak transcription	NH-A	brain
36	chr6:121632000-121640400	Weak transcription	Osteobl	bone
37	chr6:121632000-121654200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:121632200-121640400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:121632200-121641600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:121632200-121653800	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr6:121632200-121654200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr6:121632200-121655000	Weak transcription	HSMM	muscle
43	chr6:121632400-121640400	Weak transcription	Brain Angular Gyrus	brain
44	chr6:121632400-121649800	Weak transcription	NHLF	lung
45	chr6:121632400-121654600	Weak transcription	HMEC	breast
46	chr6:121632800-121655000	Weak transcription	Lung	lung
47	chr6:121633200-121639600	Strong transcription	Dnd41	blood
48	chr6:121633400-121638000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr6:121633800-121643200	Weak transcription	Fetal Lung	lung
50	chr6:121634000-121644200	Weak transcription	Gastric	stomach

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