Variant report

Variant	rs234653
Chromosome Location	chr1:184848773-184848774
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184848626..184851151-chr1:184851395..184854029,2	K562	blood:
2	chr1:184848614..184850686-chr1:184859108..184860791,2	K562	blood:
3	chr1:184847569..184850114-chr1:184858162..184860608,2	K562	blood:
4	chr1:184842169..184844267-chr1:184847606..184851069,3	K562	blood:
5	chr1:184848240..184850868-chr1:184879497..184882190,2	K562	blood:

Variant related genes	Relation type
ENSG00000135842	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1465106	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs180046	0.87[CEU][hapmap]
rs234110	0.87[CEU][hapmap]
rs234634	0.87[CEU][hapmap]
rs234635	0.87[CEU][hapmap]
rs234642	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234647	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234649	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234651	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234652	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234654	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234655	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234656	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234664	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs234680	0.87[CEU][hapmap]
rs234682	0.87[CEU][hapmap]
rs234683	0.87[CEU][hapmap]
rs28927681	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs35545276	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35704242	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3845472	1.00[ASN][1000 genomes]
rs41321748	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap]
rs55637494	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55710473	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55757920	1.00[ASN][1000 genomes]
rs56076998	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56278505	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56374790	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs569243	1.00[CEU][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap]
rs603160	1.00[CEU][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap]
rs639593	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs642027	1.00[CEU][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap]
rs7528487	0.83[EUR][1000 genomes]
rs7528626	1.00[CEU][hapmap];0.88[GIH][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv832048	chr1:184660146-184858802	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv3843	chr1:184798670-184858114	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv872585	chr1:184813885-184986725	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv872586	chr1:184814555-184948689	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv872587	chr1:184820832-184986725	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184816800-184874200	Weak transcription	Esophagus	oesophagus
2	chr1:184831400-184874200	Weak transcription	Lung	lung
3	chr1:184831600-184851600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:184833000-184849400	Weak transcription	Fetal Heart	heart
5	chr1:184837000-184849800	Weak transcription	Right Ventricle	heart
6	chr1:184837200-184849600	Weak transcription	Aorta	Aorta
7	chr1:184837200-184851000	Weak transcription	NHDF-Ad	bronchial
8	chr1:184837200-184851600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:184837200-184858400	Weak transcription	K562	blood
10	chr1:184837200-184859800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:184837200-184869000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:184837400-184849200	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:184838000-184859200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr1:184839000-184849000	Weak transcription	Left Ventricle	heart
15	chr1:184839800-184850000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:184839800-184852600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:184839800-184858600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:184840000-184849200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:184840000-184858200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:184840800-184848800	Weak transcription	GM12878-XiMat	blood
21	chr1:184843000-184866800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:184844200-184874200	Weak transcription	Adipose Nuclei	Adipose
23	chr1:184844800-184851400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:184845000-184849000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:184845800-184850400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:184845800-184850600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:184845800-184852200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:184846000-184850800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr1:184847200-184851200	Weak transcription	Stomach Mucosa	stomach
30	chr1:184847200-184853000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr1:184847400-184850400	Weak transcription	Psoas Muscle	Psoas
32	chr1:184847800-184849200	Enhancers	Fetal Lung	lung
33	chr1:184847800-184853400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr1:184848000-184849000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr1:184848000-184849600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:184848000-184850000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:184848000-184851000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr1:184848000-184851200	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr1:184848000-184851600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:184848200-184848800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:184848200-184849000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:184848200-184851800	Weak transcription	Gastric	stomach
43	chr1:184848400-184848800	Weak transcription	Pancreas	Pancrea
44	chr1:184848400-184854600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:184848600-184849400	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr1:184848600-184849800	Enhancers	Colon Smooth Muscle	Colon
47	chr1:184848600-184851400	Enhancers	Right Atrium	heart

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