Variant report

Variant	rs72739693
Chromosome Location	chr1:185030234-185030235
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185027893..185030728-chr1:185060878..185063774,2	MCF-7	breast:
2	chr1:185012619..185015964-chr1:185026835..185031334,6	MCF-7	breast:
3	chr1:185020834..185023739-chr1:185029280..185032218,3	K562	blood:

Variant related genes	Relation type
ENSG00000121481	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1008502	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs1046592	0.99[ASN][1000 genomes]
rs10489581	0.80[AMR][1000 genomes]
rs10797998	0.94[ASN][1000 genomes]
rs10911673	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911674	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10911676	0.99[ASN][1000 genomes]
rs10911682	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12022419	0.80[AMR][1000 genomes]
rs12025995	0.80[AMR][1000 genomes]
rs12026000	0.80[AMR][1000 genomes]
rs12030761	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12030778	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12030967	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12031837	0.83[AFR][1000 genomes]
rs12035073	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12035433	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12037466	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12037692	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12038919	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12039541	0.83[AFR][1000 genomes]
rs12039657	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12041374	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12043427	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12043495	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12043561	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12043617	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12044997	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12045772	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12046095	0.83[AFR][1000 genomes]
rs12046202	0.80[AMR][1000 genomes]
rs12046801	0.99[ASN][1000 genomes]
rs12049293	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12086086	0.94[ASN][1000 genomes]
rs12404644	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12408279	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12409926	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs1407554	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs1544052	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16823740	0.88[ASN][1000 genomes]
rs16865296	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs2273881	0.80[AMR][1000 genomes]
rs2378958	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3766720	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs41264588	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs41264590	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs56107433	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs61125463	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs61495015	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs72739698	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72739699	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72741807	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs72741808	0.80[AMR][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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185015600-185034200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:185015600-185037000	Weak transcription	Spleen	Spleen
3	chr1:185015600-185037600	Weak transcription	Pancreas	Pancrea
4	chr1:185015800-185037600	Weak transcription	Aorta	Aorta
5	chr1:185015800-185043400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:185016000-185034400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:185016400-185057000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:185016400-185067200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:185016400-185073800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:185016600-185057000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:185017200-185037400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:185017400-185031000	Weak transcription	Stomach Mucosa	stomach
13	chr1:185017400-185037200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:185017400-185037400	Weak transcription	NHEK	skin
15	chr1:185017400-185042800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:185017600-185034200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:185018400-185043000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:185018400-185043200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:185018400-185101800	Weak transcription	Fetal Brain Male	brain
20	chr1:185019000-185034600	Weak transcription	Lung	lung
21	chr1:185019200-185037600	Weak transcription	Left Ventricle	heart
22	chr1:185020200-185030800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr1:185020400-185039000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:185020600-185040200	Weak transcription	Brain Angular Gyrus	brain
25	chr1:185020800-185031200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:185021600-185057200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:185024000-185033000	Weak transcription	Fetal Intestine Large	intestine
28	chr1:185024200-185044000	Weak transcription	Fetal Stomach	stomach
29	chr1:185024200-185056600	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr1:185026600-185033200	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr1:185026600-185033200	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr1:185026800-185031400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr1:185027000-185033200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:185027200-185030800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr1:185027200-185032600	Weak transcription	Fetal Muscle Leg	muscle
36	chr1:185027200-185056400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr1:185027200-185056400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:185027400-185034600	Weak transcription	Ovary	ovary
39	chr1:185027400-185038000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr1:185027400-185040000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr1:185027600-185039000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr1:185028200-185030600	Weak transcription	Primary T cells from cord blood	blood
43	chr1:185028200-185030800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:185028200-185032000	Weak transcription	GM12878-XiMat	blood
45	chr1:185028200-185035200	Weak transcription	Fetal Lung	lung
46	chr1:185028200-185037600	Weak transcription	Brain Hippocampus Middle	brain
47	chr1:185028200-185039400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr1:185028200-185058200	Weak transcription	Brain Substantia Nigra	brain
49	chr1:185028400-185030600	Weak transcription	Primary B cells from cord blood	blood
50	chr1:185028400-185031800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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