Variant report

Variant	rs2368335
Chromosome Location	chr2:183961668-183961669
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	chr2:183961564..183963218-chr2:183968375..183970375,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10165922	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10170163	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10174477	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10183561	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs10200193	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10201194	0.92[ASN][1000 genomes]
rs10460315	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931061	0.83[AMR][1000 genomes]
rs11692613	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12463411	0.92[ASW][hapmap];0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.90[TSI][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693331	0.92[ASN][1000 genomes]
rs13399265	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13419900	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16823717	1.00[CHB][hapmap];0.83[CHD][hapmap];0.85[ASN][1000 genomes]
rs16823721	1.00[CHB][hapmap];0.83[CHD][hapmap];0.87[ASN][1000 genomes]
rs16823967	1.00[CHB][hapmap];0.83[CHD][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];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2138482	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2138484	0.80[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.94[MEX][hapmap];0.84[MKK][hapmap];0.84[TSI][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2138485	0.94[ASN][1000 genomes]
rs2176228	0.96[ASN][1000 genomes]
rs2247840	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2368354	0.86[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];0.89[CHD][hapmap];0.92[ASN][1000 genomes]
rs3748879	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs4597478	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]
rs4666607	1.00[CHB][hapmap];0.83[CHD][hapmap];0.83[ASN][1000 genomes]
rs4666885	0.92[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.84[MEX][hapmap];0.88[MKK][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4666887	0.95[AMR][1000 genomes];0.86[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	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs867340	0.81[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2368335	NUP35	cis	cerebellum	SCAN
rs2368335	NCKAP1	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183944600-183963200	Weak transcription	Brain Angular Gyrus	brain
2	chr2:183944800-183962200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:183944800-183962800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:183945000-183961800	Weak transcription	Left Ventricle	heart
5	chr2:183945000-183962600	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:183945000-183963400	Weak transcription	Fetal Intestine Small	intestine
7	chr2:183945000-183963400	Weak transcription	Fetal Stomach	stomach
8	chr2:183945600-183964000	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:183945800-183972600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr2:183947000-183962800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:183947000-183963600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:183953200-183963600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:183954600-183988400	Weak transcription	Aorta	Aorta
14	chr2:183956000-183963600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:183956400-183963200	Weak transcription	Ovary	ovary
16	chr2:183958000-183963600	Weak transcription	Adipose Nuclei	Adipose
17	chr2:183959400-183970200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:183959800-183962800	Weak transcription	Small Intestine	intestine

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