Variant report

Variant	rs2840217
Chromosome Location	chr1:184825355-184825356
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184824428..184826404-chr1:184846281..184848600,2	K562	blood:
2	chr1:184823250..184825779-chr1:184941412..184943063,2	K562	blood:
3	chr1:184824657..184827608-chr1:184835127..184837530,2	K562	blood:
4	chr1:184824657..184829011-chr1:184835127..184837530,3	K562	blood:
5	chr1:184823503..184826399-chr1:184827732..184830343,3	K562	blood:

Variant related genes	Relation type
ENSG00000135842	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16823606	0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823626	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16823651	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs57144153	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57440078	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58916512	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs60903884	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6662843	1.00[TSI][hapmap]
rs6664204	1.00[MEX][hapmap]
rs6673017	1.00[EUR][1000 genomes]
rs6683230	1.00[EUR][1000 genomes]
rs6690708	1.00[ASW][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73050643	1.00[EUR][1000 genomes]
rs7520163	1.00[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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184797200-184830000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:184808200-184831400	Weak transcription	Gastric	stomach
3	chr1:184808400-184836000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:184808400-184836000	Weak transcription	NHEK	skin
5	chr1:184808800-184834800	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:184813200-184826000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr1:184814000-184826200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:184814200-184826000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr1:184814400-184825800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:184814400-184834600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:184816800-184874200	Weak transcription	Esophagus	oesophagus
12	chr1:184817600-184835800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:184821600-184825800	Weak transcription	Aorta	Aorta
14	chr1:184821600-184835200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:184821600-184842400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:184821800-184826400	Weak transcription	Right Atrium	heart
17	chr1:184821800-184829800	Weak transcription	Fetal Muscle Leg	muscle
18	chr1:184821800-184836200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:184822000-184828000	Weak transcription	GM12878-XiMat	blood
20	chr1:184822000-184832800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:184823000-184828800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:184823200-184826600	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr1:184823400-184825800	Weak transcription	Left Ventricle	heart
24	chr1:184823400-184826200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr1:184823600-184828800	Weak transcription	Psoas Muscle	Psoas
26	chr1:184823800-184825600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:184823800-184828600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:184823800-184828600	Weak transcription	HSMMtube	muscle
29	chr1:184824000-184829000	Weak transcription	Right Ventricle	heart
30	chr1:184824000-184835800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr1:184824000-184835800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr1:184824200-184825800	Weak transcription	NH-A	brain
33	chr1:184824200-184834800	Weak transcription	NHDF-Ad	bronchial
34	chr1:184824600-184825800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:184824600-184826000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:184824800-184828400	Weak transcription	Fetal Heart	heart
37	chr1:184824800-184833200	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr1:184824800-184835400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:184825000-184825800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:184825000-184829000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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