Variant report

Variant	rs2228265
Chromosome Location	chr6:35253974-35253975
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:35248636..35252801-chr6:35252914..35256314,5	K562	blood:
2	chr6:35250607..35252613-chr6:35252914..35254653,2	K562	blood:
3	chr6:35253934..35256378-chr6:35438296..35440191,2	K562	blood:
4	chr6:35251015..35257008-chr6:35259512..35261942,5	K562	blood:
5	chr6:35249001..35251643-chr6:35253439..35256338,3	MCF-7	breast:
6	chr6:35246677..35249056-chr6:35253744..35256144,2	MCF-7	breast:
7	chr6:35253202..35255574-chr6:35420736..35422300,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000065029	Chromatin interaction
ENSG00000217004	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs1034450	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10428744	1.00[ASN][1000 genomes]
rs1077822	1.00[ASN][1000 genomes]
rs11962521	1.00[ASN][1000 genomes]
rs11962524	1.00[ASN][1000 genomes]
rs12110520	1.00[ASN][1000 genomes]
rs12110664	1.00[ASN][1000 genomes]
rs12111424	1.00[ASN][1000 genomes]
rs16868695	1.00[ASN][1000 genomes]
rs16868699	1.00[ASN][1000 genomes]
rs16872293	1.00[ASN][1000 genomes]
rs16874062	0.81[AMR][1000 genomes]
rs16874216	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16874262	0.81[AMR][1000 genomes]
rs2004	1.00[ASN][1000 genomes]
rs2187903	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28627111	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2894400	1.00[ASN][1000 genomes]
rs34278260	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41270046	1.00[ASN][1000 genomes]
rs41270062	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45482297	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56809926	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57229653	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57468283	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57794912	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57856268	1.00[ASN][1000 genomes]
rs57976333	1.00[ASN][1000 genomes]
rs58796597	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58850273	1.00[ASN][1000 genomes]
rs59757151	1.00[ASN][1000 genomes]
rs59895076	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60086237	1.00[ASN][1000 genomes]
rs60113507	1.00[ASN][1000 genomes]
rs60569490	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61592141	1.00[ASN][1000 genomes]
rs61734578	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457817	1.00[ASN][1000 genomes]
rs6900879	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6901580	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6904477	1.00[ASN][1000 genomes]
rs6905732	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6906117	0.81[AMR][1000 genomes]
rs6911817	1.00[ASN][1000 genomes]
rs6923025	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6934083	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6938138	1.00[ASN][1000 genomes]
rs6939017	1.00[ASN][1000 genomes]
rs73403843	1.00[ASN][1000 genomes]
rs73403847	1.00[ASN][1000 genomes]
rs73403887	1.00[ASN][1000 genomes]
rs73405709	1.00[ASN][1000 genomes]
rs73405725	1.00[ASN][1000 genomes]
rs73405759	1.00[ASN][1000 genomes]
rs73405765	1.00[ASN][1000 genomes]
rs73405768	1.00[ASN][1000 genomes]
rs73405774	1.00[ASN][1000 genomes]
rs73405795	1.00[ASN][1000 genomes]
rs73405799	1.00[ASN][1000 genomes]
rs73407610	1.00[ASN][1000 genomes]
rs73407613	1.00[ASN][1000 genomes]
rs73407619	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73407641	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73407650	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73407675	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409710	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73409758	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73409765	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409769	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409774	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409778	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409793	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411706	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411720	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411726	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411781	1.00[EUR][1000 genomes]
rs73411797	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73746425	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73746430	1.00[ASN][1000 genomes]
rs743965	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7773319	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs820102	1.00[ASN][1000 genomes]
rs9462062	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9462064	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9462066	0.81[AMR][1000 genomes]
rs9469960	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469965	0.81[AMR][1000 genomes]
rs9469966	0.81[AMR][1000 genomes]
rs9469967	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469969	0.87[AMR][1000 genomes]
rs9469977	0.81[AMR][1000 genomes]
rs9469984	0.81[AMR][1000 genomes]
rs9658127	1.00[ASN][1000 genomes]
rs9658131	1.00[ASN][1000 genomes]
rs9942465	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758047	chr6:35168116-35291002	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	esv2759419	chr6:35168116-35291002	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35232600-35265200	Weak transcription	Stomach Mucosa	stomach
2	chr6:35233800-35258400	Weak transcription	Small Intestine	intestine
3	chr6:35237800-35264800	Weak transcription	K562	blood
4	chr6:35243400-35256800	Weak transcription	NHEK	skin
5	chr6:35243400-35265000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:35243600-35254000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:35246800-35254000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:35247800-35255400	Strong transcription	Fetal Muscle Trunk	muscle
9	chr6:35247800-35264600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:35248000-35264800	Strong transcription	Stomach Smooth Muscle	stomach
11	chr6:35248400-35255000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:35248400-35262200	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr6:35248400-35263400	Strong transcription	Rectal Smooth Muscle	rectum
14	chr6:35248400-35264400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:35248600-35264200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr6:35248600-35264200	Strong transcription	Fetal Thymus	thymus
17	chr6:35248600-35264400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr6:35248800-35256600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
19	chr6:35248800-35257000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:35248800-35260000	Strong transcription	Primary B cells from peripheral blood	blood
21	chr6:35248800-35260200	Strong transcription	Primary B cells from cord blood	blood
22	chr6:35248800-35261200	Weak transcription	A549	lung
23	chr6:35248800-35262000	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr6:35248800-35263600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:35248800-35263600	Strong transcription	Duodenum Mucosa	Duodenum
26	chr6:35248800-35263800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:35248800-35264000	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr6:35248800-35264000	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:35248800-35264000	Strong transcription	Dnd41	blood
30	chr6:35248800-35264200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr6:35248800-35264400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr6:35248800-35264400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr6:35248800-35264400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:35248800-35264400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:35248800-35264600	Strong transcription	Primary T cells from cord blood	blood
36	chr6:35248800-35264600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr6:35248800-35264800	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr6:35248800-35264800	Strong transcription	Thymus	Thymus
39	chr6:35248800-35265000	Strong transcription	Fetal Intestine Small	intestine
40	chr6:35248800-35265000	Strong transcription	Fetal Stomach	stomach
41	chr6:35248800-35265400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:35248800-35265800	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr6:35249000-35255000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:35249000-35255200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:35249000-35263400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:35249000-35264200	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr6:35249000-35264600	Strong transcription	Brain Anterior Caudate	brain
48	chr6:35249000-35264600	Strong transcription	Brain Cingulate Gyrus	brain
49	chr6:35249000-35264600	Strong transcription	Fetal Intestine Large	intestine
50	chr6:35249000-35265000	Strong transcription	Liver	Liver

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