Variant report

Variant	rs73090994
Chromosome Location	chr1:227760391-227760392
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227758119..227760802-chr16:33923322..33925835,2	MCF-7	breast:
2	chr1:227747468..227754046-chr1:227756230..227762193,11	K562	blood:
3	chr1:227751815..227753395-chr1:227758245..227760827,2	K562	blood:

Variant related genes	Relation type
ENSG00000202264	Chromatin interaction
ENSG00000181450	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs12563117	1.00[EUR][1000 genomes]
rs12563564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12564736	1.00[EUR][1000 genomes]
rs12564917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12564929	1.00[EUR][1000 genomes]
rs12565099	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12565618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12565653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12566716	1.00[EUR][1000 genomes]
rs12567084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12567934	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1323021	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13373816	1.00[EUR][1000 genomes]
rs16841323	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847822	1.00[AMR][1000 genomes]
rs16847912	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847926	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847929	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847948	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16848026	1.00[EUR][1000 genomes]
rs16848044	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16859962	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860227	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17492440	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17492447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2101862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2313220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34984248	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35703429	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4462138	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57165550	1.00[AMR][1000 genomes]
rs58322371	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58961542	0.94[ASN][1000 genomes]
rs59404931	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59461077	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59772630	1.00[AMR][1000 genomes]
rs60835672	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61283390	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6665512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6675470	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088936	1.00[AMR][1000 genomes]
rs73090912	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73090935	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73090936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090937	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090938	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090942	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73090947	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73090948	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090954	1.00[ASN][1000 genomes]
rs73090959	1.00[AMR][1000 genomes]
rs73090985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73091000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73092604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73092610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73092646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092653	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092661	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092665	0.95[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	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094536	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094538	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094556	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094558	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094561	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094566	0.95[AFR][1000 genomes]
rs73094571	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73099300	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73099302	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73101625	1.00[AMR][1000 genomes]
rs73101653	1.00[AMR][1000 genomes]
rs73102372	1.00[AMR][1000 genomes]
rs73102384	1.00[AMR][1000 genomes]
rs73102391	1.00[AMR][1000 genomes]
rs73104364	1.00[AMR][1000 genomes]
rs7526436	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7533013	0.87[ASN][1000 genomes]
rs7546845	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7554851	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554870	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7555208	1.00[AMR][1000 genomes]
rs996226	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	esv2753828	chr1:227670265-227791265	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv873248	chr1:227710381-227786033	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3338615	chr1:227738421-227798486	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	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
8	nsv947073	chr1:227755113-227760558	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv945340	chr1:227758923-227760558	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227752000-227766800	Weak transcription	Ovary	ovary
2	chr1:227752200-227763200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:227752200-227774400	Weak transcription	Aorta	Aorta
4	chr1:227752400-227763000	Weak transcription	Stomach Mucosa	stomach
5	chr1:227752400-227763800	Weak transcription	HSMMtube	muscle
6	chr1:227752400-227766800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:227752400-227780600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:227753600-227763000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:227754400-227783600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:227756800-227760400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr1:227756800-227762400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr1:227758400-227761400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:227759400-227761000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
14	chr1:227759600-227760400	ZNF genes & repeats	Primary T cells from cord blood	blood
15	chr1:227759800-227760400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
16	chr1:227759800-227760400	ZNF genes & repeats	A549	lung
17	chr1:227759800-227760600	ZNF genes & repeats	Fetal Lung	lung
18	chr1:227759800-227760600	Genic enhancers	Left Ventricle	heart
19	chr1:227759800-227760800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:227759800-227760800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:227759800-227760800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
22	chr1:227759800-227760800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:227759800-227760800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:227759800-227760800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
25	chr1:227759800-227760800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
26	chr1:227759800-227760800	Genic enhancers	K562	blood
27	chr1:227759800-227761000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:227759800-227761000	ZNF genes & repeats	Brain Germinal Matrix	brain
29	chr1:227759800-227761800	ZNF genes & repeats	Primary B cells from cord blood	blood
30	chr1:227760000-227760400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:227760000-227760400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:227760000-227760400	Enhancers	Small Intestine	intestine
33	chr1:227760000-227760400	ZNF genes & repeats	Dnd41	blood
34	chr1:227760000-227760600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:227760000-227760600	Strong transcription	Primary B cells from peripheral blood	blood
36	chr1:227760000-227760600	Strong transcription	Fetal Intestine Large	intestine
37	chr1:227760000-227760600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
38	chr1:227760000-227760600	ZNF genes & repeats	Fetal Muscle Leg	muscle
39	chr1:227760000-227760600	Genic enhancers	Pancreas	Pancrea
40	chr1:227760000-227760600	ZNF genes & repeats	Thymus	Thymus
41	chr1:227760000-227760800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
42	chr1:227760000-227760800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:227760000-227760800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:227760000-227760800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
45	chr1:227760000-227760800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:227760000-227760800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:227760000-227760800	ZNF genes & repeats	Esophagus	oesophagus
48	chr1:227760000-227760800	ZNF genes & repeats	Fetal Intestine Small	intestine
49	chr1:227760000-227760800	ZNF genes & repeats	Fetal Stomach	stomach
50	chr1:227760000-227760800	ZNF genes & repeats	Gastric	stomach

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