Variant report

Variant	rs4597478
Chromosome Location	chr2:183955567-183955568
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:183954410..183956747-chr2:183990297..183991914,2	K562	blood:
2	chr2:183945846..183948149-chr2:183954335..183956849,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10153562	0.83[YRI][hapmap]
rs10165922	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10170163	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10174477	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10183561	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs10200193	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10201194	0.92[ASN][1000 genomes]
rs10460315	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931061	0.83[AMR][1000 genomes]
rs11692613	1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12463411	0.96[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693331	0.92[ASN][1000 genomes]
rs13399265	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13419900	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16823717	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs16823721	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs16823967	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs16823970	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs16823971	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs16823974	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs16823976	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs16824001	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs1882440	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2138482	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2138484	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2138485	0.94[ASN][1000 genomes]
rs2176228	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2247840	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2368335	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2368354	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2675117	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs2705714	0.91[ASN][1000 genomes]
rs2944346	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs3748879	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs4666607	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs4666885	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4666887	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55942934	0.87[ASN][1000 genomes]
rs56271556	0.87[ASN][1000 genomes]
rs59041013	0.87[ASN][1000 genomes]
rs61283216	0.87[ASN][1000 genomes]
rs61526412	0.87[ASN][1000 genomes]
rs6742203	0.92[ASN][1000 genomes]
rs6754851	0.83[AMR][1000 genomes]
rs73035651	0.85[ASN][1000 genomes]
rs73036601	0.87[ASN][1000 genomes]
rs7601585	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs867340	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs925805	1.00[CHB][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1003519	chr2:183885544-184015868	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv2763287	chr2:183939173-184037893	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183944600-183957400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr2:183944600-183963200	Weak transcription	Brain Angular Gyrus	brain
3	chr2:183944800-183956000	Weak transcription	Liver	Liver
4	chr2:183944800-183956000	Weak transcription	Right Ventricle	heart
5	chr2:183944800-183962200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr2:183944800-183962800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr2:183945000-183956000	Weak transcription	Brain Anterior Caudate	brain
8	chr2:183945000-183960200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:183945000-183961800	Weak transcription	Left Ventricle	heart
10	chr2:183945000-183962600	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:183945000-183963400	Weak transcription	Fetal Intestine Small	intestine
12	chr2:183945000-183963400	Weak transcription	Fetal Stomach	stomach
13	chr2:183945600-183960800	Weak transcription	Fetal Intestine Large	intestine
14	chr2:183945600-183964000	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:183945800-183972600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:183947000-183962800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:183947000-183963600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:183953200-183963600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:183954000-183955600	Enhancers	HepG2	liver
20	chr2:183954600-183959000	Weak transcription	Osteobl	bone
21	chr2:183954600-183988400	Weak transcription	Aorta	Aorta
22	chr2:183954800-183956000	Weak transcription	Pancreas	Pancrea
23	chr2:183954800-183957800	Weak transcription	GM12878-XiMat	blood
24	chr2:183955400-183955600	Enhancers	Duodenum Mucosa	Duodenum

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