Variant report

Variant	rs4653765
Chromosome Location	chr1:226895345-226895346
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226891869..226893550-chr1:226895150..226896872,2	K562	blood:
2	chr1:226880308..226883489-chr1:226893060..226896461,3	K562	blood:
3	chr1:226844931..226846433-chr1:226894353..226896487,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12076039	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs12078663	0.87[MKK][hapmap];1.00[YRI][hapmap]
rs16846378	0.95[GIH][hapmap];0.82[MEX][hapmap]
rs16846409	0.90[AMR][1000 genomes]
rs16846413	0.86[AMR][1000 genomes]
rs3754402	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs3754407	0.95[GIH][hapmap];0.82[MEX][hapmap]
rs3754409	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs41440951	0.82[MEX][hapmap]
rs4653463	1.00[CHB][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4653763	0.81[AMR][1000 genomes]
rs4653766	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57646605	0.85[AFR][1000 genomes]
rs60166938	0.89[AFR][1000 genomes]
rs60541195	0.94[AFR][1000 genomes]
rs60932168	0.90[AMR][1000 genomes]
rs6662364	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs9651015	1.00[YRI][hapmap];0.94[AFR][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	nsv522446	chr1:226785530-226923938	Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv997468	chr1:226858660-226975311	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv535316	chr1:226858660-226975311	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226886200-226895800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:226886200-226896000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:226891600-226896000	Weak transcription	Esophagus	oesophagus
4	chr1:226891600-226896200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:226891600-226896200	Weak transcription	Spleen	Spleen
6	chr1:226891600-226896600	Weak transcription	Lung	lung
7	chr1:226891600-226898200	Weak transcription	Gastric	stomach
8	chr1:226891600-226899000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:226891600-226900600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:226891600-226900600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:226891600-226910200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:226891800-226895400	Weak transcription	Fetal Intestine Large	intestine
13	chr1:226891800-226895400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:226891800-226895400	Weak transcription	HMEC	breast
15	chr1:226891800-226895800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:226891800-226895800	Weak transcription	NHLF	lung
17	chr1:226891800-226896000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:226891800-226896000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:226891800-226896000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:226891800-226896000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:226891800-226896000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:226891800-226896000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:226891800-226896000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:226891800-226896000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:226891800-226896000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:226891800-226896000	Weak transcription	Placenta	Placenta
27	chr1:226891800-226896000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr1:226891800-226896000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:226891800-226896000	Weak transcription	HSMM	muscle
30	chr1:226891800-226896000	Weak transcription	NH-A	brain
31	chr1:226891800-226896000	Weak transcription	Osteobl	bone
32	chr1:226891800-226896200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:226891800-226896200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:226891800-226896200	Weak transcription	Fetal Brain Female	brain
35	chr1:226891800-226896600	Weak transcription	Fetal Heart	heart
36	chr1:226891800-226897000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr1:226891800-226898600	Weak transcription	Colonic Mucosa	Colon
38	chr1:226891800-226899000	Weak transcription	Ovary	ovary
39	chr1:226891800-226901400	Weak transcription	Fetal Kidney	kidney
40	chr1:226891800-226903000	Enhancers	Brain Cingulate Gyrus	brain
41	chr1:226891800-226924800	Weak transcription	Aorta	Aorta
42	chr1:226892000-226895600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:226892000-226895800	Weak transcription	NHEK	skin
44	chr1:226892000-226896000	Weak transcription	Stomach Mucosa	stomach
45	chr1:226892000-226897000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
46	chr1:226892000-226898000	Genic enhancers	Primary T cells from cord blood	blood
47	chr1:226892000-226898600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr1:226892200-226895400	Weak transcription	Dnd41	blood
49	chr1:226892200-226895600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:226892200-226896000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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