Variant report

Variant	rs73921598
Chromosome Location	chr2:31442069-31442070
allele	A/G
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	TCF12	chr2:31441854-31442308	GM12878	blood:	n/a	n/a
2	SPI1	chr2:31441749-31443090	GM12878	blood:	n/a	chr2:31442258-31442271
3	ATF2	chr2:31441886-31442907	GM12878	blood:	n/a	n/a
4	BCLAF1	chr2:31441899-31442872	GM12878	blood:	n/a	n/a
5	GABPA	chr2:31442024-31442254	GM12878	blood:	n/a	n/a
6	TCF12	chr2:31441879-31442288	GM12878	blood:	n/a	n/a
7	BHLHE40	chr2:31441900-31442892	GM12878	blood:	n/a	n/a
8	RUNX3	chr2:31441827-31442852	GM12878	blood:	n/a	n/a
9	EBF1	chr2:31441783-31442837	GM12878	blood:	n/a	chr2:31441951-31441964 chr2:31441953-31441962 chr2:31441953-31441962
10	FOXM1	chr2:31441871-31442798	GM12878	blood:	n/a	n/a
11	POLR2A	chr2:31442030-31442843	GM12892	blood:	n/a	n/a
12	YY1	chr2:31441929-31442359	GM12892	blood:	n/a	chr2:31442148-31442156
13	PML	chr2:31441861-31442963	GM12878	blood:	n/a	n/a
14	MTA3	chr2:31441843-31442927	GM12878	blood:	n/a	n/a
15	TBL1XR1	chr2:31441962-31442921	GM12878	blood:	n/a	n/a
16	SMC3	chr2:31441924-31442861	GM12878	blood:	n/a	chr2:31441931-31441941
17	POLR2A	chr2:31441929-31442889	GM12892	blood:	n/a	n/a
18	MTA3	chr2:31441996-31442910	GM12878	blood:	n/a	n/a
19	EP300	chr2:31441872-31442944	GM12878	blood:	n/a	n/a
20	CUX1	chr2:31442021-31442892	GM12878	blood:	n/a	n/a
21	POLR2A	chr2:31441837-31442901	GM12892	blood:	n/a	n/a
22	TCF3	chr2:31441923-31442249	GM12878	blood:	n/a	chr2:31441972-31441985
23	TCF3	chr2:31441867-31442730	GM12878	blood:	n/a	chr2:31441972-31441985
24	EBF1	chr2:31441824-31442824	GM12878	blood:	n/a	chr2:31441951-31441964 chr2:31441953-31441962 chr2:31441953-31441962
25	EP300	chr2:31441937-31442255	GM12878	blood:	n/a	n/a
26	MXI1	chr2:31442013-31442118	GM12878	blood:	n/a	n/a
27	RUNX3	chr2:31441849-31442361	GM12878	blood:	n/a	n/a
28	NFIC	chr2:31441829-31442895	GM12878	blood:	n/a	n/a
29	CHD2	chr2:31441888-31442844	GM12878	blood:	n/a	n/a
30	RCOR1	chr2:31441950-31442867	GM12878	blood:	n/a	n/a
31	PAX5	chr2:31441830-31442906	GM12878	blood:	n/a	n/a
32	EBF1	chr2:31441774-31442266	GM12878	blood:	n/a	chr2:31441951-31441964 chr2:31441953-31441962 chr2:31441953-31441962
33	CHD1	chr2:31442065-31442458	GM12878	blood:	n/a	n/a
34	NFIC	chr2:31441841-31442863	GM12878	blood:	n/a	n/a
35	IKZF1	chr2:31441952-31443007	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:31437754..31439740-chr2:31441574..31443729,2	MCF-7	breast:

Variant related genes	Relation type
CAPN14	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs56404374	1.00[AFR][1000 genomes]
rs57748606	1.00[AFR][1000 genomes]
rs61545713	0.83[AFR][1000 genomes]
rs73921575	0.83[AFR][1000 genomes]
rs73921578	1.00[AFR][1000 genomes]
rs73921579	1.00[AFR][1000 genomes]
rs73921580	1.00[AFR][1000 genomes]
rs73921581	1.00[AFR][1000 genomes]
rs73921582	1.00[AFR][1000 genomes]
rs73921583	1.00[AFR][1000 genomes]
rs73921584	1.00[AFR][1000 genomes]
rs73921587	1.00[AFR][1000 genomes]
rs73921589	1.00[AFR][1000 genomes]
rs73921591	1.00[AFR][1000 genomes]
rs73921592	1.00[AFR][1000 genomes]
rs73921593	1.00[AFR][1000 genomes]
rs73921597	1.00[AFR][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	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv430635	chr2:31420415-31464385	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1009712	chr2:31424588-31468364	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1000416	chr2:31424588-31470845	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv581268	chr2:31425783-31467079	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1001299	chr2:31428030-31464385	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv430646	chr2:31428030-31464385	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31436400-31442200	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:31436800-31442200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:31436800-31446200	Enhancers	Primary B cells from cord blood	blood
4	chr2:31436800-31447400	Enhancers	Primary hematopoietic stem cells	blood
5	chr2:31436800-31447400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:31439000-31442400	Enhancers	Fetal Heart	heart
7	chr2:31439400-31442600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:31439400-31443000	Enhancers	Fetal Thymus	thymus
9	chr2:31440000-31442200	Weak transcription	Left Ventricle	heart
10	chr2:31440400-31443400	Enhancers	Esophagus	oesophagus
11	chr2:31440800-31442200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:31441000-31442400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:31441000-31443200	Enhancers	Stomach Mucosa	stomach
14	chr2:31441200-31443000	Enhancers	Duodenum Mucosa	Duodenum
15	chr2:31441200-31443800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr2:31441200-31449400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:31441600-31442200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:31441600-31442200	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr2:31441800-31442600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr2:31441800-31442600	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr2:31442000-31442200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr2:31442000-31442600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:31442000-31442600	Enhancers	Lung	lung
24	chr2:31442000-31442600	Enhancers	Right Ventricle	heart
25	chr2:31442000-31442600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr2:31442000-31442800	Enhancers	Spleen	Spleen
27	chr2:31442000-31443000	Flanking Active TSS	GM12878-XiMat	blood

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