Variant report

Variant	rs73104288
Chromosome Location	chr2:231132097-231132098
allele	C/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	NFATC1	chr2:231132023-231132975	GM12878	blood:	n/a	n/a
2	NFIC	chr2:231131716-231133011	GM12878	blood:	n/a	chr2:231132730-231132758 chr2:231132650-231132666
3	MTA3	chr2:231131809-231133016	GM12878	blood:	n/a	n/a
4	RUNX3	chr2:231132095-231132901	GM12878	blood:	n/a	n/a
5	CEBPB	chr2:231132020-231132861	GM12878	blood:	n/a	chr2:231132396-231132407
6	MXI1	chr2:231132073-231132745	GM12878	blood:	n/a	n/a
7	MTA3	chr2:231132085-231132860	GM12878	blood:	n/a	n/a
8	ATF2	chr2:231131877-231132849	GM12878	blood:	n/a	n/a
9	NFIC	chr2:231131995-231132873	GM12878	blood:	n/a	chr2:231132730-231132758 chr2:231132650-231132666
10	SPI1	chr2:231131070-231132810	GM12878	blood:	n/a	chr2:231132364-231132371
11	MEF2A	chr2:231132085-231132710	GM12878	blood:	n/a	n/a
12	NFATC1	chr2:231131603-231132969	GM12878	blood:	n/a	n/a
13	FOXM1	chr2:231132028-231132823	GM12878	blood:	n/a	n/a
14	BHLHE40	chr2:231132052-231132796	GM12878	blood:	n/a	n/a
15	MAZ	chr2:231132050-231132814	GM12878	blood:	n/a	n/a
16	ATF2	chr2:231132004-231132826	GM12878	blood:	n/a	n/a
17	PML	chr2:231131967-231132938	GM12878	blood:	n/a	n/a
18	CREB1	chr2:231131884-231132857	GM12878	blood:	n/a	n/a
19	MEF2A	chr2:231132065-231132750	GM12878	blood:	n/a	n/a
20	IKZF1	chr2:231132089-231132822	GM12878	blood:	n/a	n/a
21	CUX1	chr2:231132061-231132606	GM12878	blood:	n/a	n/a
22	FOXM1	chr2:231132035-231132765	GM12878	blood:	n/a	n/a
23	BCLAF1	chr2:231132028-231132836	GM12878	blood:	n/a	chr2:231132711-231132718 chr2:231132487-231132496
24	RUNX3	chr2:231131824-231132922	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
SP140	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs59581368	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59705038	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59786244	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73104290	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73104294	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73104296	0.91[AFR][1000 genomes]
rs73106374	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73106385	0.86[AFR][1000 genomes];1.00[AMR][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:23 , 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	chr2:231131400-231133400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:231131600-231132800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr2:231131600-231133600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:231131600-231134000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:231131800-231134200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:231132000-231134600	Flanking Active TSS	GM12878-XiMat	blood

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