Variant report

Variant	rs57229653
Chromosome Location	chr6:35186288-35186289
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:35186126..35189088-chr6:35223923..35225540,2	K562	blood:
2	chr6:35177824..35181731-chr6:35185438..35190079,5	K562	blood:
3	chr6:35170890..35173888-chr6:35185679..35187377,2	K562	blood:
4	chr6:35182919..35187135-chr6:35197439..35201271,4	K562	blood:
5	chr6:35185173..35187713-chr6:35194979..35197264,2	K562	blood:
6	chr6:34855917..34858790-chr6:35184012..35186610,2	K562	blood:
7	chr6:35178452..35180834-chr6:35183642..35187997,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000064999	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs1034450	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10428744	1.00[ASN][1000 genomes]
rs11962521	1.00[ASN][1000 genomes]
rs11962524	1.00[ASN][1000 genomes]
rs12110520	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12110664	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12111424	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16868695	1.00[ASN][1000 genomes]
rs16868699	1.00[ASN][1000 genomes]
rs16872293	1.00[ASN][1000 genomes]
rs16873902	1.00[AMR][1000 genomes]
rs16874216	1.00[ASN][1000 genomes]
rs17511800	1.00[AMR][1000 genomes]
rs2004	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2187903	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2228265	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28627111	1.00[ASN][1000 genomes]
rs2894400	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34278260	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35455943	0.88[EUR][1000 genomes]
rs41270046	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41270062	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45482297	1.00[ASN][1000 genomes]
rs56809926	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57468283	1.00[ASN][1000 genomes]
rs57794912	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57976333	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58796597	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58850273	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59895076	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60086237	0.93[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60113507	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60569490	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61592141	1.00[ASN][1000 genomes]
rs61734578	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457817	1.00[ASN][1000 genomes]
rs6900879	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6901580	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6904477	1.00[ASN][1000 genomes]
rs6905732	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6911817	1.00[ASN][1000 genomes]
rs6923025	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6934083	1.00[ASN][1000 genomes]
rs6938138	1.00[ASN][1000 genomes]
rs6939017	1.00[ASN][1000 genomes]
rs73403830	1.00[ASN][1000 genomes]
rs73403834	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403837	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403843	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403847	1.00[ASN][1000 genomes]
rs73403887	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73405709	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73405725	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73405759	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73405765	1.00[ASN][1000 genomes]
rs73405768	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73405774	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73405795	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73405799	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73407610	1.00[ASN][1000 genomes]
rs73407613	1.00[ASN][1000 genomes]
rs73407619	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73407641	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73407650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73407675	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409710	1.00[ASN][1000 genomes]
rs73409758	1.00[ASN][1000 genomes]
rs73409765	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409769	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409774	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409778	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409793	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411706	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411720	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411726	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73411781	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73411797	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73746425	1.00[ASN][1000 genomes]
rs743965	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7773319	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs820102	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9462062	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9462064	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469960	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469967	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9658079	1.00[AMR][1000 genomes]
rs9658127	1.00[ASN][1000 genomes]
rs9658129	1.00[AMR][1000 genomes]
rs9658131	1.00[ASN][1000 genomes]
rs9658132	1.00[AMR][1000 genomes]
rs9658135	1.00[AMR][1000 genomes]
rs9658149	1.00[AMR][1000 genomes]
rs9658170	1.00[AMR][1000 genomes]
rs9942465	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][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	esv3428128	chr6:35150524-35225843	Bivalent Enhancer Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	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
3	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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35182400-35209000	Weak transcription	A549	lung
2	chr6:35182600-35186600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:35182600-35186600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:35182600-35186600	Enhancers	Placenta Amnion	Placenta Amnion
5	chr6:35182600-35198600	Weak transcription	Gastric	stomach
6	chr6:35182800-35186600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:35182800-35188000	Enhancers	Left Ventricle	heart
8	chr6:35183200-35198800	Weak transcription	Ovary	ovary
9	chr6:35183400-35186600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
10	chr6:35183600-35186400	Enhancers	NHDF-Ad	bronchial
11	chr6:35183600-35189000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:35184000-35186800	Enhancers	Aorta	Aorta
13	chr6:35184400-35186400	Weak transcription	Right Ventricle	heart
14	chr6:35184400-35186600	Enhancers	Placenta	Placenta
15	chr6:35184600-35186600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:35184600-35186600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
17	chr6:35184600-35186800	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr6:35184800-35205600	Weak transcription	Fetal Brain Female	brain
19	chr6:35185000-35186600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
20	chr6:35185200-35187200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:35185200-35188200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:35185400-35186400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
23	chr6:35185400-35186600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
24	chr6:35185400-35186600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:35185400-35186600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:35185400-35186600	Enhancers	Fetal Kidney	kidney
27	chr6:35185400-35186600	Genic enhancers	Fetal Stomach	stomach
28	chr6:35185400-35187600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:35185400-35198800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:35185600-35186400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
31	chr6:35185600-35186600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
32	chr6:35185600-35186600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
33	chr6:35185600-35187000	Enhancers	Fetal Lung	lung
34	chr6:35185600-35188200	Transcr. at gene 5' and 3'	Osteobl	bone
35	chr6:35185600-35189200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:35185600-35194200	Enhancers	Fetal Heart	heart
37	chr6:35185800-35186400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
38	chr6:35185800-35186400	Bivalent Enhancer	Fetal Thymus	thymus
39	chr6:35185800-35187400	Enhancers	Right Atrium	heart
40	chr6:35185800-35188400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:35185800-35198400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr6:35186000-35186400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr6:35186000-35186400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:35186000-35186400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:35186000-35186600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:35186000-35186600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
47	chr6:35186000-35186600	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr6:35186000-35186600	Enhancers	Lung	lung
49	chr6:35186000-35187000	Strong transcription	Stomach Smooth Muscle	stomach
50	chr6:35186200-35186400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood

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