Variant report

Variant	rs6690002
Chromosome Location	chr1:155313568-155313569
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	chr1:155311963..155313733-chr1:155337378..155340313,2	MCF-7	breast:
2	chr1:155303453..155305737-chr1:155312070..155313825,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11465203	1.00[AMR][1000 genomes]
rs2070679	1.00[AMR][1000 genomes]
rs59650797	1.00[AMR][1000 genomes]
rs6672663	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7514174	0.82[AFR][1000 genomes]
rs7519564	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7527209	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7529556	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7531890	1.00[AMR][1000 genomes]
rs7536194	1.00[AMR][1000 genomes]
rs7554397	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8177979	1.00[AMR][1000 genomes]
rs8177997	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
2	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
3	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
4	nsv831636	chr1:155219223-155444864	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
6	esv1799856	chr1:155305059-155534616	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	esv1795662	chr1:155305059-155540660	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155296000-155334400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:155296200-155349400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:155296600-155348200	Strong transcription	Fetal Stomach	stomach
4	chr1:155296800-155330000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:155297000-155330800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:155297200-155322600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:155297800-155357400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:155298200-155320800	Strong transcription	Fetal Thymus	thymus
9	chr1:155299600-155330200	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr1:155299600-155341200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr1:155299600-155353600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr1:155301200-155332200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:155301800-155334800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:155302400-155341200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:155302600-155330800	Strong transcription	Placenta	Placenta
16	chr1:155302800-155315000	Strong transcription	Osteobl	bone
17	chr1:155302800-155316800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:155303000-155317800	Strong transcription	Fetal Brain Female	brain
19	chr1:155303000-155322000	Strong transcription	Thymus	Thymus
20	chr1:155303000-155328000	Strong transcription	Primary T cells from cord blood	blood
21	chr1:155303000-155330400	Strong transcription	Stomach Smooth Muscle	stomach
22	chr1:155303000-155331200	Strong transcription	Fetal Muscle Trunk	muscle
23	chr1:155303000-155332200	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr1:155303000-155334400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:155303000-155341200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:155303000-155352800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:155303200-155330800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr1:155303200-155341000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:155303400-155314200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:155303400-155332600	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr1:155303600-155332200	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr1:155304200-155317000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:155304200-155332000	Strong transcription	Dnd41	blood
34	chr1:155304400-155318200	Strong transcription	Placenta Amnion	Placenta Amnion
35	chr1:155304400-155330200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:155304400-155330800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr1:155304400-155331000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr1:155304400-155337200	Strong transcription	Fetal Muscle Leg	muscle
39	chr1:155304600-155314800	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:155304600-155318000	Strong transcription	Left Ventricle	heart
41	chr1:155304600-155319400	Strong transcription	Primary B cells from cord blood	blood
42	chr1:155304600-155326000	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:155304600-155330200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:155304600-155331800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:155304600-155332000	Strong transcription	Duodenum Mucosa	Duodenum
46	chr1:155306000-155314600	Strong transcription	Fetal Lung	lung
47	chr1:155306000-155319400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr1:155306000-155319400	Strong transcription	Brain Substantia Nigra	brain
49	chr1:155306000-155324200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:155306000-155336800	Strong transcription	Adipose Nuclei	Adipose

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