Variant report

Variant	rs3383
Chromosome Location	chr6:143073041-143073042
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	chr6:143072743..143074672-chr6:143075733..143079095,3	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12192768	0.81[EUR][1000 genomes]
rs12199482	0.82[EUR][1000 genomes]
rs169098	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs197462	0.83[CEU][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs197472	0.93[ASN][1000 genomes]
rs197475	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs197476	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs197477	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs197482	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs197491	0.86[EUR][1000 genomes]
rs3850224	0.81[EUR][1000 genomes]
rs3850225	0.81[EUR][1000 genomes]
rs3900201	0.84[EUR][1000 genomes]
rs4895597	0.81[EUR][1000 genomes]
rs4896592	0.85[EUR][1000 genomes]
rs4896593	0.84[EUR][1000 genomes]
rs517096	0.91[EUR][1000 genomes]
rs56146803	0.83[EUR][1000 genomes]
rs57584479	0.85[EUR][1000 genomes]
rs7349872	0.81[EUR][1000 genomes]
rs9373358	0.83[EUR][1000 genomes]
rs9376706	0.80[EUR][1000 genomes]
rs9390022	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949088	chr6:142561402-143128849	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv830828	chr6:142970134-143116517	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143049800-143073200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:143059400-143080600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:143059600-143074200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:143062200-143074200	Weak transcription	NHEK	skin
5	chr6:143062400-143073600	Weak transcription	NHDF-Ad	bronchial
6	chr6:143062400-143074200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:143062600-143074200	Weak transcription	HSMM	muscle
8	chr6:143064000-143074000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:143066200-143074200	Weak transcription	HMEC	breast
10	chr6:143066200-143079000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr6:143066800-143074000	Weak transcription	Adipose Nuclei	Adipose
12	chr6:143066800-143074200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:143067600-143074200	Weak transcription	Brain Angular Gyrus	brain
14	chr6:143067600-143080600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:143067800-143074000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:143067800-143074200	Weak transcription	Aorta	Aorta
17	chr6:143067800-143074200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr6:143068000-143074200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:143068000-143074200	Weak transcription	Brain Anterior Caudate	brain
20	chr6:143068000-143075000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:143068200-143073800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr6:143068200-143074200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr6:143068200-143074200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr6:143068200-143074200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr6:143068200-143074200	Weak transcription	Thymus	Thymus
26	chr6:143068200-143077400	Weak transcription	Fetal Lung	lung
27	chr6:143068200-143079600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:143068400-143074000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr6:143070600-143073800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr6:143070600-143074200	Weak transcription	Fetal Muscle Leg	muscle
31	chr6:143071000-143073800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr6:143071200-143074200	Weak transcription	Liver	Liver
33	chr6:143071200-143074200	Weak transcription	HepG2	liver
34	chr6:143071200-143074400	Weak transcription	Fetal Stomach	stomach
35	chr6:143071600-143073400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:143071600-143074200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:143071600-143074200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:143071600-143074200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr6:143071600-143074200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr6:143071600-143074200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr6:143071600-143074200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr6:143071600-143074200	Weak transcription	Gastric	stomach
43	chr6:143071600-143074400	Weak transcription	Fetal Intestine Small	intestine
44	chr6:143071600-143080600	Weak transcription	Colonic Mucosa	Colon
45	chr6:143071800-143073200	Enhancers	Fetal Brain Male	brain
46	chr6:143071800-143073600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:143071800-143074200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr6:143071800-143074200	Weak transcription	NHLF	lung
49	chr6:143072000-143073600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr6:143072000-143074400	Weak transcription	Primary monocytes fromperipheralblood	blood

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