Variant report

Variant	rs35535298
Chromosome Location	chr12:50669011-50669012
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50668052..50669567-chr12:50674586..50677447,2	MCF-7	breast:
2	chr12:50667436..50669686-chr12:50677547..50679539,3	K562	blood:
3	chr12:50646516..50648440-chr12:50668582..50670960,3	K562	blood:
4	chr12:50667614..50669349-chr12:50676194..50678144,2	MCF-7	breast:
5	chr12:50653700..50656235-chr12:50667803..50669605,2	K562	blood:
6	chr12:50666860..50670693-chr12:50671075..50676885,6	K562	blood:
7	chr12:50594314..50595947-chr12:50667482..50670246,2	MCF-7	breast:
8	chr12:50665714..50669767-chr12:50671688..50676181,4	MCF-7	breast:
9	chr12:50661921..50664462-chr12:50666966..50669585,2	K562	blood:
10	chr12:50662962..50664861-chr12:50666966..50669357,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000050405	Chromatin interaction
ENSG00000203433	Chromatin interaction

Extended variants
information (count: 144 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs10467106	0.82[ASN][1000 genomes]
rs10506292	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10783344	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10783349	0.90[EUR][1000 genomes]
rs10783350	0.88[EUR][1000 genomes]
rs10783352	0.81[ASN][1000 genomes]
rs10783353	0.87[ASN][1000 genomes]
rs10876013	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10876014	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876015	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876016	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876017	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10876018	0.88[EUR][1000 genomes]
rs10876023	0.89[ASN][1000 genomes]
rs10876028	0.88[ASN][1000 genomes]
rs11169314	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169315	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169317	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169319	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169322	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169331	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169332	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169335	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169339	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169345	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169347	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169348	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169349	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169350	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169351	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169357	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169359	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11169360	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169367	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169369	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169370	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169371	0.89[EUR][1000 genomes]
rs11169373	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169374	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169375	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169376	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169377	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169379	0.88[EUR][1000 genomes]
rs11169386	0.87[EUR][1000 genomes]
rs11169390	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11169391	0.88[ASN][1000 genomes]
rs11169395	0.87[ASN][1000 genomes]
rs11836169	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11838347	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299669	0.84[ASN][1000 genomes]
rs12299758	0.87[ASN][1000 genomes]
rs12303082	0.89[ASN][1000 genomes]
rs12312177	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12422417	0.89[ASN][1000 genomes]
rs12424691	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12424713	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12424876	0.88[ASN][1000 genomes]
rs12425229	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12425705	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12426444	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12811291	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12814094	0.89[ASN][1000 genomes]
rs12821454	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12821504	0.85[EUR][1000 genomes]
rs12823506	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12828340	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12832940	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1362983	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17124562	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1972611	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1984993	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2009072	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2111988	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2302900	0.87[EUR][1000 genomes]
rs2358539	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28628775	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34039674	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34614542	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34825838	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34849043	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34858415	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34894919	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35209607	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35663729	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35768991	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35878271	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35933908	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36017775	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3812825	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3861100	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4348979	0.89[ASN][1000 genomes]
rs4421818	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4445717	0.81[ASN][1000 genomes]
rs4768855	0.87[ASN][1000 genomes]
rs4768872	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4768949	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4768951	0.87[EUR][1000 genomes]
rs6580735	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6580736	0.91[EUR][1000 genomes]
rs6580737	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580738	0.91[EUR][1000 genomes]
rs6580739	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6580740	0.89[EUR][1000 genomes]
rs6580741	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6580743	0.86[ASN][1000 genomes]
rs67138019	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7132551	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7135777	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71465002	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7295847	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7296291	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7301186	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7301189	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7302363	0.89[ASN][1000 genomes]
rs7304445	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305995	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308095	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7308885	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7310541	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7311378	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311491	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311973	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312252	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7314465	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7315871	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7315955	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7399343	0.88[EUR][1000 genomes]
rs7485486	0.89[EUR][1000 genomes]
rs7486747	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7488682	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7489214	0.88[EUR][1000 genomes]
rs7953953	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7956468	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972824	0.84[ASN][1000 genomes]
rs7974648	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7979830	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7980911	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9668187	0.87[ASN][1000 genomes]
rs9705460	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9739363	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers 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	56 gene(s)	inside rSNPs	diseases
3	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
4	nsv1035796	chr12:50634342-50784312	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs35535298	ATF1	cis	Artery Tibial	GTEx
rs35535298	DIP2B	Cis_1M	lymphoblastoid	RTeQTL
rs35535298	CERS5	cis	Nerve Tibial	GTEx

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50649200-50671000	Weak transcription	Small Intestine	intestine
2	chr12:50652200-50675800	Weak transcription	Fetal Stomach	stomach
3	chr12:50652400-50671200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:50652400-50676200	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:50652400-50676400	Weak transcription	HSMM	muscle
6	chr12:50661600-50672400	Genic enhancers	Fetal Intestine Small	intestine
7	chr12:50662200-50676400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:50665000-50676400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:50665600-50675800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:50665600-50676200	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:50665800-50670000	Enhancers	HepG2	liver
12	chr12:50665800-50673400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:50665800-50676000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:50665800-50676400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:50666000-50669200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:50666000-50669400	Weak transcription	HMEC	breast
17	chr12:50666000-50671000	Weak transcription	NHDF-Ad	bronchial
18	chr12:50666000-50671200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:50666000-50674800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:50666000-50675200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr12:50666000-50676400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:50666000-50676400	Weak transcription	Ovary	ovary
23	chr12:50666200-50669400	Weak transcription	K562	blood
24	chr12:50666200-50670800	Weak transcription	Osteobl	bone
25	chr12:50666200-50671000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:50666200-50671200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:50666200-50675600	Weak transcription	Fetal Lung	lung
28	chr12:50666200-50676400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr12:50666200-50676400	Weak transcription	Liver	Liver
30	chr12:50666400-50669400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:50666400-50669400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:50666400-50676400	Weak transcription	Right Ventricle	heart
33	chr12:50666600-50669600	Weak transcription	Adipose Nuclei	Adipose
34	chr12:50667600-50671600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr12:50667600-50671600	Genic enhancers	Fetal Intestine Large	intestine
36	chr12:50667600-50672400	Enhancers	Hela-S3	cervix
37	chr12:50667600-50674600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr12:50667800-50669800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:50668000-50669600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr12:50668200-50669400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:50668200-50669400	Weak transcription	Right Atrium	heart
42	chr12:50668200-50671000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:50668200-50676200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr12:50668400-50670400	Weak transcription	Lung	lung
45	chr12:50668400-50671600	Enhancers	Colonic Mucosa	Colon
46	chr12:50668600-50669400	Weak transcription	Pancreas	Pancrea
47	chr12:50668600-50669600	Weak transcription	Psoas Muscle	Psoas
48	chr12:50668600-50670200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:50668600-50671000	Weak transcription	Gastric	stomach
50	chr12:50668600-50671200	Weak transcription	A549	lung

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