Variant report

Variant	rs73094536
Chromosome Location	chr1:227812706-227812707
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	chr1:227803218..227804951-chr1:227810975..227813465,2	MCF-7	breast:
2	chr1:227797075..227799559-chr1:227811537..227814521,3	MCF-7	breast:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs12563564	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12564917	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12565618	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12565653	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12567084	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16847822	1.00[AMR][1000 genomes]
rs16847912	1.00[AMR][1000 genomes]
rs16847929	1.00[AMR][1000 genomes]
rs16847987	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16859962	1.00[AMR][1000 genomes]
rs16860227	1.00[AMR][1000 genomes]
rs17492447	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2101862	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2313220	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35703429	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57165550	1.00[AMR][1000 genomes]
rs58322371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59404931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59461077	1.00[AMR][1000 genomes]
rs59772630	1.00[AMR][1000 genomes]
rs60835672	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61283390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6665512	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6675470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088936	1.00[AMR][1000 genomes]
rs73090912	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73090935	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73090936	1.00[AMR][1000 genomes]
rs73090937	1.00[AMR][1000 genomes]
rs73090938	1.00[AMR][1000 genomes]
rs73090942	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73090947	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73090948	1.00[AMR][1000 genomes]
rs73090952	1.00[AMR][1000 genomes]
rs73090959	1.00[AMR][1000 genomes]
rs73090985	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73090986	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73090987	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73090994	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73090995	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73091000	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092604	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092607	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092610	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092646	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73093304	1.00[AMR][1000 genomes]
rs73093319	1.00[AMR][1000 genomes]
rs73093328	1.00[AMR][1000 genomes]
rs73093344	1.00[AMR][1000 genomes]
rs73093354	1.00[AMR][1000 genomes]
rs73094528	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094566	1.00[AFR][1000 genomes]
rs73094571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73098926	1.00[AMR][1000 genomes]
rs73098933	1.00[AMR][1000 genomes]
rs73099300	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73099302	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73101625	1.00[AMR][1000 genomes]
rs73101653	1.00[AMR][1000 genomes]
rs73104364	1.00[AMR][1000 genomes]
rs7526436	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7546845	1.00[AMR][1000 genomes]
rs7554851	1.00[AMR][1000 genomes]
rs7554870	1.00[AMR][1000 genomes]
rs7555208	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv873246	chr1:227694948-227884465	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	esv3327012	chr1:227741102-227890968	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv945673	chr1:227799341-227819395	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227770000-227853800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:227790400-227834800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:227800200-227820600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:227800400-227814200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:227801200-227821800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:227805800-227823600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:227809200-227814200	Weak transcription	Left Ventricle	heart
8	chr1:227809200-227815000	Weak transcription	Ovary	ovary
9	chr1:227809800-227814600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:227810400-227813400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr1:227810600-227813000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:227810800-227813000	Weak transcription	Small Intestine	intestine
13	chr1:227811400-227812800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr1:227811600-227813000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
15	chr1:227811800-227812800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:227811800-227812800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:227811800-227812800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
18	chr1:227811800-227814400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
19	chr1:227811800-227814800	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:227811800-227814800	ZNF genes & repeats	Fetal Brain Female	brain
21	chr1:227811800-227830600	ZNF genes & repeats	Liver	Liver
22	chr1:227812000-227812800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr1:227812000-227813000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
24	chr1:227812000-227813000	ZNF genes & repeats	Aorta	Aorta
25	chr1:227812000-227813000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
26	chr1:227812000-227814600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
27	chr1:227812200-227812800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
28	chr1:227812200-227813000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:227812200-227813000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:227812200-227813000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:227812200-227813200	ZNF genes & repeats	Fetal Intestine Small	intestine
32	chr1:227812200-227813400	ZNF genes & repeats	Spleen	Spleen
33	chr1:227812200-227814600	ZNF genes & repeats	Fetal Stomach	stomach
34	chr1:227812200-227814600	ZNF genes & repeats	Lung	lung
35	chr1:227812400-227816400	Weak transcription	Psoas Muscle	Psoas

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