Variant report

Variant	rs62191196
Chromosome Location	chr2:231133528-231133529
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr2:231133488-231133976	GM12878	blood:	n/a	n/a
2	RUNX3	chr2:231133395-231133917	GM12878	blood:	n/a	n/a
3	EBF1	chr2:231133434-231133651	GM12878	blood:	n/a	n/a
4	IKZF1	chr2:231133445-231133879	GM12878	blood:	n/a	n/a
5	NFIC	chr2:231133408-231133940	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
SP140	TF binding region

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10164566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10177685	0.89[ASN][1000 genomes]
rs10200874	0.89[ASN][1000 genomes]
rs10498245	0.89[ASN][1000 genomes]
rs12472020	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12477360	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13389060	0.85[EUR][1000 genomes]
rs13395371	0.89[ASN][1000 genomes]
rs13422994	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1346311	0.85[EUR][1000 genomes]
rs16826952	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1863674	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1863677	0.89[ASN][1000 genomes]
rs2081713	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2114588	0.89[ASN][1000 genomes]
rs2114590	0.89[ASN][1000 genomes]
rs2162481	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2396741	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34839676	0.89[ASN][1000 genomes]
rs3769841	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3769842	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3769843	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3769844	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3769846	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3813464	0.89[ASN][1000 genomes]
rs3820975	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3829782	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4343458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972943	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972945	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4973302	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4973304	0.89[ASN][1000 genomes]
rs4973305	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4973306	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57003673	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57402789	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59020873	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59805999	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61575136	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62191186	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62191188	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62191189	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62191191	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62191192	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62191193	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62191197	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62191199	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62191200	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62191201	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62191202	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62192161	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62193107	0.94[EUR][1000 genomes]
rs62193138	0.94[EUR][1000 genomes]
rs62193139	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62193140	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62193141	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62193142	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62193143	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62193147	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72495165	0.84[ASN][1000 genomes]
rs7576496	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7591582	0.94[EUR][1000 genomes]
rs9989792	0.89[ASN][1000 genomes]
rs9989808	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001562	chr2:230862717-231187043	Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv536156	chr2:230862717-231187043	Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv498047	chr2:230951712-231250489	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv869834	chr2:231045013-231139827	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv998291	chr2:231045388-231136278	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231090200-231170000	Weak transcription	Spleen	Spleen
2	chr2:231119200-231141200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:231120600-231134200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:231125400-231136800	Strong transcription	Primary B cells from cord blood	blood
5	chr2:231127800-231135400	Weak transcription	Primary T cells from cord blood	blood
6	chr2:231128200-231135600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:231128200-231166000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:231128600-231133800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr2:231128600-231134000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:231128600-231134200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr2:231128600-231134800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:231129000-231135000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:231129400-231137200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr2:231129800-231140800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:231130000-231138200	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr2:231130200-231137800	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr2:231131000-231135000	Genic enhancers	Primary B cells from peripheral blood	blood
18	chr2:231131600-231133600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:231131600-231134000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:231131800-231134200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:231132000-231134600	Flanking Active TSS	GM12878-XiMat	blood
22	chr2:231132800-231134800	Enhancers	Adipose Nuclei	Adipose
23	chr2:231133400-231133600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:231133400-231133600	Enhancers	Left Ventricle	heart
25	chr2:231133400-231134000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:231133400-231134000	Enhancers	Brain Substantia Nigra	brain
27	chr2:231133400-231134200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:231133400-231134200	Enhancers	Brain Germinal Matrix	brain
29	chr2:231133400-231134400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:231133400-231134600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr2:231133400-231134600	Enhancers	Brain Hippocampus Middle	brain
32	chr2:231133400-231137600	Weak transcription	Monocytes-CD14+_RO01746	blood

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