Variant report

Variant	rs13074614
Chromosome Location	chr3:98597932-98597933
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:98597641..98599720-chr3:98602345..98604464,2	K562	blood:
2	chr3:98595385..98598220-chr3:98601282..98604965,3	K562	blood:
3	chr3:98596084..98598965-chr3:98619062..98620700,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000057019	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10428160	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10589669	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11552978	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12107272	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12108018	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12108142	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13059624	0.87[EUR][1000 genomes]
rs13065136	0.98[EUR][1000 genomes]
rs13068317	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13072410	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13074787	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13076960	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13078549	0.93[EUR][1000 genomes]
rs13079960	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13080057	0.87[EUR][1000 genomes]
rs13081992	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13083238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13083613	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13083934	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13084692	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13087627	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13087631	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13088532	0.89[EUR][1000 genomes]
rs13091170	0.98[EUR][1000 genomes]
rs13091236	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13091956	0.82[EUR][1000 genomes]
rs13093128	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13096085	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13097876	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13100915	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13100937	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1983009	0.84[EUR][1000 genomes]
rs2439232	0.91[EUR][1000 genomes]
rs2454687	0.89[EUR][1000 genomes]
rs34008360	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34269725	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34279227	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34284740	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34394867	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34428696	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34458031	0.91[AMR][1000 genomes]
rs34470469	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34479374	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34489202	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34688367	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34711372	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34725039	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34791359	0.91[AMR][1000 genomes]
rs34826460	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34848749	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34860591	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35006699	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35025156	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35076733	0.93[EUR][1000 genomes]
rs35098355	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35103318	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35219252	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35234681	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35239055	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35312318	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35366262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35422064	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35499232	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35514544	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35526367	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35539438	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35592768	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35764973	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35854439	0.82[EUR][1000 genomes]
rs35894621	0.91[AMR][1000 genomes]
rs35914268	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35947493	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35947806	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36028944	0.82[AMR][1000 genomes]
rs36032715	0.87[EUR][1000 genomes]
rs36098932	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36157152	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36160001	0.84[EUR][1000 genomes]
rs36175276	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs41267851	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55644421	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56083233	0.98[EUR][1000 genomes]
rs56094988	0.82[EUR][1000 genomes]
rs56246599	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56408882	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6764579	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6805362	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71124004	0.83[EUR][1000 genomes]
rs71311393	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71311394	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71311397	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71311398	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71311402	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71313504	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71313506	0.91[EUR][1000 genomes]
rs71313508	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71313509	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71313510	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71313511	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71313512	0.91[AMR][1000 genomes]
rs7614053	0.82[AMR][1000 genomes];1.00[EUR][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	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1007140	chr3:98421229-99202458	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv536663	chr3:98421229-99202458	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv877214	chr3:98445324-98738006	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1009032	chr3:98514221-98607721	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	esv3441569	chr3:98585311-98607020	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1007486	chr3:98597738-99249081	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98567600-98601000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr3:98575400-98603800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:98575800-98603200	Weak transcription	Colon Smooth Muscle	Colon
4	chr3:98575800-98603800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr3:98576000-98598600	Weak transcription	Fetal Kidney	kidney
6	chr3:98577200-98598800	Weak transcription	Left Ventricle	heart
7	chr3:98578000-98601000	Weak transcription	Lung	lung
8	chr3:98583400-98611400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr3:98584400-98607200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr3:98584600-98604200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr3:98586600-98598600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr3:98587200-98604600	Weak transcription	Ovary	ovary
13	chr3:98587800-98601800	Strong transcription	HSMM	muscle
14	chr3:98589000-98598600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr3:98589200-98602200	Weak transcription	NHLF	lung
16	chr3:98589400-98598800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr3:98589400-98609200	Weak transcription	Fetal Intestine Large	intestine
18	chr3:98589600-98599800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:98589800-98604000	Weak transcription	Fetal Stomach	stomach
20	chr3:98590000-98609600	Weak transcription	Brain Anterior Caudate	brain
21	chr3:98590800-98598600	Weak transcription	HSMMtube	muscle
22	chr3:98590800-98604600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr3:98591000-98598000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:98591000-98598600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr3:98591200-98599000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr3:98591400-98598600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr3:98591400-98598600	Weak transcription	Adipose Nuclei	Adipose
28	chr3:98591400-98598600	Weak transcription	Liver	Liver
29	chr3:98591400-98598800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr3:98591400-98602200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:98591400-98604200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:98591600-98598600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:98591600-98600000	Weak transcription	Dnd41	blood
34	chr3:98591600-98604600	Weak transcription	Aorta	Aorta
35	chr3:98592000-98598600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:98592600-98604600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr3:98593000-98598800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr3:98593200-98599200	Weak transcription	Fetal Brain Female	brain
39	chr3:98593600-98599000	Genic enhancers	NH-A	brain
40	chr3:98593800-98604600	Weak transcription	Psoas Muscle	Psoas
41	chr3:98593800-98619400	Weak transcription	Small Intestine	intestine
42	chr3:98594000-98598600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:98594400-98616600	Weak transcription	Fetal Brain Male	brain
44	chr3:98594600-98598200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:98594600-98598400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr3:98594600-98600600	Strong transcription	HUVEC	blood vessel
47	chr3:98594600-98602200	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr3:98594600-98604200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr3:98595000-98603600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr3:98595200-98608800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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