Variant report

Variant	rs698750
Chromosome Location	chr2:54422381-54422382
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54343141..54345901-chr2:54421855..54423562,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10171521	0.86[CEU][hapmap];0.83[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs1099438	0.87[ASN][1000 genomes]
rs1215140	0.87[ASN][1000 genomes]
rs1215141	0.87[ASN][1000 genomes]
rs1215142	0.87[ASN][1000 genomes]
rs1215145	0.83[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1215146	0.87[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1215147	0.86[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1215148	0.85[ASN][1000 genomes]
rs1215149	0.87[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs1237253	0.87[ASN][1000 genomes]
rs1351881	0.87[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs1385274	0.87[CEU][hapmap];0.84[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs1682107	0.90[ASN][1000 genomes]
rs1682110	0.90[ASN][1000 genomes]
rs1682112	0.87[ASN][1000 genomes]
rs1682113	0.87[ASN][1000 genomes]
rs1682114	0.84[ASN][1000 genomes]
rs1727501	0.87[ASN][1000 genomes]
rs1727506	0.86[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1727507	0.82[ASN][1000 genomes]
rs1727508	0.87[ASN][1000 genomes]
rs1727509	0.87[ASN][1000 genomes]
rs2695648	0.83[ASN][1000 genomes]
rs6718204	0.87[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs6727644	0.87[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap]
rs6743897	0.87[ASN][1000 genomes]
rs698753	0.83[ASN][1000 genomes]
rs72802616	0.89[ASN][1000 genomes]
rs843645	0.80[CHB][hapmap]
rs843649	0.87[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap]
rs843652	0.86[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs843655	0.87[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap]
rs843657	0.87[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs843658	0.86[CEU][hapmap]
rs843660	0.80[ASN][1000 genomes]
rs843664	0.87[CEU][hapmap];0.90[CHB][hapmap]
rs843665	0.81[ASN][1000 genomes]
rs843694	0.87[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap]
rs843698	0.87[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap]
rs843700	0.87[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap]
rs843701	0.87[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap]
rs843704	0.86[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap]
rs843707	0.87[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap]
rs843751	0.86[ASN][1000 genomes]
rs843752	0.87[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs843753	0.83[ASN][1000 genomes]
rs843755	0.83[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs843757	0.83[ASN][1000 genomes]
rs843758	0.86[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs843759	0.86[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs843761	0.81[ASN][1000 genomes]
rs843766	0.82[ASN][1000 genomes]
rs860058	0.86[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001246	chr2:54195654-54434832	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv431069	chr2:54260132-54434049	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv1007731	chr2:54331179-54452329	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
10	nsv535723	chr2:54331179-54452329	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
11	nsv874148	chr2:54344325-54432222	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	nsv1000652	chr2:54345892-54469703	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv1003889	chr2:54347750-54424601	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv1011433	chr2:54351145-54424601	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv1012230	chr2:54351988-54422959	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv874149	chr2:54358517-54432222	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv1009828	chr2:54393122-54488721	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
18	nsv961316	chr2:54409849-54427030	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54380600-54429200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr2:54380600-54434400	Weak transcription	Ovary	ovary
3	chr2:54387800-54457400	Weak transcription	Aorta	Aorta
4	chr2:54388400-54424600	Weak transcription	Brain Substantia Nigra	brain
5	chr2:54388400-54435000	Weak transcription	Brain Angular Gyrus	brain
6	chr2:54404200-54433600	Weak transcription	Brain Anterior Caudate	brain
7	chr2:54411200-54423600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:54412600-54422600	Weak transcription	Fetal Lung	lung
9	chr2:54412600-54435000	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:54414200-54434600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:54415200-54432400	Weak transcription	Primary B cells from cord blood	blood
12	chr2:54415200-54434200	Weak transcription	Primary T cells from cord blood	blood
13	chr2:54415200-54434400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:54415200-54434600	Weak transcription	HSMMtube	muscle
15	chr2:54415400-54434400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:54416200-54451400	Weak transcription	Left Ventricle	heart
17	chr2:54416400-54427600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:54417000-54425800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:54421800-54422400	Enhancers	GM12878-XiMat	blood
20	chr2:54421800-54423400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:54422200-54422400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:54422200-54422800	Active TSS	Sigmoid Colon	Sigmoid Colon

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