Variant report

Variant	rs73853430
Chromosome Location	chr3:112192191-112192192
allele	C/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	BCL11A	chr3:112192183-112192464	GM12878	blood:	n/a	n/a
2	FOXA1	chr3:112191879-112192446	HepG2	liver:	n/a	chr3:112192175-112192190
3	EP300	chr3:112192073-112192376	HepG2	liver:	n/a	chr3:112192176-112192186
4	FOXA1	chr3:112191836-112192429	HepG2	liver:	n/a	chr3:112192175-112192190
5	GATA3	chr3:112191801-112192430	MCF-7	breast:	n/a	n/a
6	BCL3	chr3:112192167-112192475	GM12878	blood:	n/a	n/a
7	SPI1	chr3:112192174-112192582	GM12891	blood:	n/a	n/a
8	SIN3AK20	chr3:112191814-112192501	MCF-7	breast:	n/a	n/a
9	POLR2A	chr3:112192022-112192427	GM12878	blood:	n/a	n/a
10	NFATC1	chr3:112191897-112192507	GM12878	blood:	n/a	n/a
11	MYC	chr3:112192063-112192540	NB4	blood:	n/a	n/a
12	SPI1	chr3:112192167-112192488	HL-60	blood:	n/a	n/a
13	MEF2A	chr3:112192157-112192484	GM12878	blood:	n/a	n/a
14	HDAC2	chr3:112191883-112192441	MCF-7	breast:	n/a	chr3:112192177-112192186
15	PML	chr3:112191850-112192621	GM12878	blood:	n/a	n/a
16	FOXA1	chr3:112191973-112192342	HepG2	liver:	n/a	chr3:112192175-112192190
17	MAX	chr3:112192011-112192462	NB4	blood:	n/a	chr3:112192046-112192057
18	GATA3	chr3:112191940-112192433	MCF-7	breast:	n/a	n/a
19	WRNIP1	chr3:112192127-112192312	GM12878	blood:	n/a	n/a
20	CEBPB	chr3:112191916-112192636	GM12878	blood:	n/a	n/a
21	POLR2A	chr3:112192044-112192619	HL-60	blood:	n/a	n/a
22	SPI1	chr3:112192186-112192493	GM12878	blood:	n/a	n/a
23	RUNX3	chr3:112191947-112192511	GM12878	blood:	n/a	n/a
24	ZNF384	chr3:112191911-112192636	GM12878	blood:	n/a	n/a
25	ATF2	chr3:112191977-112192593	GM12878	blood:	n/a	n/a
26	RUNX3	chr3:112191898-112192605	GM12878	blood:	n/a	n/a
27	NFIC	chr3:112192061-112192599	GM12878	blood:	n/a	chr3:112192356-112192384
28	BCLAF1	chr3:112191849-112192904	GM12878	blood:	n/a	n/a
29	GATA3	chr3:112191986-112192385	T-47D	breast:	n/a	n/a
30	GATA3	chr3:112191902-112192410	T-47D	breast:	n/a	n/a
31	TCF7L2	chr3:112192045-112192411	MCF-7	breast:	n/a	chr3:112192244-112192258
32	POLR2A	chr3:112192110-112192469	HL-60	blood:	n/a	n/a
33	FOXA2	chr3:112191954-112192345	HepG2	liver:	n/a	n/a
34	GATA3	chr3:112191880-112192544	MCF-7	breast:	n/a	n/a
35	SPI1	chr3:112192035-112192633	HL-60	blood:	n/a	n/a
36	PML	chr3:112192180-112192446	GM12878	blood:	n/a	n/a
37	NFATC1	chr3:112191943-112192532	GM12878	blood:	n/a	n/a
38	GATA3	chr3:112191998-112192283	MCF-7	breast:	n/a	n/a
39	FOXA1	chr3:112191952-112192327	HepG2	liver:	n/a	chr3:112192175-112192190
40	FOXA1	chr3:112191975-112192351	T-47D	breast:	n/a	chr3:112192175-112192190
41	MTA3	chr3:112191950-112192586	GM12878	blood:	n/a	n/a
42	FOXA1	chr3:112191860-112192340	T-47D	breast:	n/a	chr3:112192175-112192190
43	BCLAF1	chr3:112192051-112192464	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:112189206..112190998-chr3:112191867..112193876,2	K562	blood:

Variant related genes	Relation type
BTLA	TF binding region
ENSG00000186265	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1817694	1.00[EUR][1000 genomes]
rs1906519	1.00[EUR][1000 genomes]
rs56231377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57024033	1.00[EUR][1000 genomes]
rs57496061	1.00[EUR][1000 genomes]
rs57606986	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58720291	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60286828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60526457	1.00[EUR][1000 genomes]
rs60780375	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61109654	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6438081	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6792289	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72938427	1.00[EUR][1000 genomes]
rs73853433	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73853435	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73853437	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591294	chr3:112091220-112208750	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1010208	chr3:112098542-112227212	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1003936	chr3:112125931-112274613	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv998309	chr3:112130290-112278804	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv591300	chr3:112144026-112270857	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv1006065	chr3:112147080-112276983	Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv1005323	chr3:112171990-112274613	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv877342	chr3:112185025-112332629	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112180400-112195400	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr3:112182200-112193600	Weak transcription	Spleen	Spleen
3	chr3:112183800-112195000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr3:112185400-112192200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:112186000-112194400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr3:112186400-112194400	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr3:112186400-112195000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr3:112186400-112195200	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr3:112186400-112195200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr3:112188600-112192200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr3:112188600-112192400	Enhancers	HSMM	muscle
12	chr3:112188800-112197600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr3:112189200-112193800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr3:112189600-112192600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr3:112189800-112193000	Enhancers	Fetal Thymus	thymus
16	chr3:112190600-112192200	Enhancers	Primary T cells from cord blood	blood
17	chr3:112190600-112192200	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr3:112190600-112193000	Enhancers	Fetal Muscle Leg	muscle
19	chr3:112190600-112193200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:112190600-112194400	Enhancers	Thymus	Thymus
21	chr3:112190600-112198400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr3:112190800-112192200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr3:112190800-112193000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr3:112190800-112195400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr3:112191000-112193600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr3:112191000-112193800	Enhancers	Primary T cells fromperipheralblood	blood
27	chr3:112191200-112192200	Weak transcription	Right Atrium	heart
28	chr3:112191200-112193400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:112191600-112192200	Enhancers	HSMMtube	muscle
30	chr3:112191600-112193000	Enhancers	Adipose Nuclei	Adipose
31	chr3:112191600-112193000	Enhancers	Dnd41	blood
32	chr3:112191800-112192200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr3:112192000-112192400	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
34	chr3:112192000-112192400	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr3:112192000-112192400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr3:112192000-112192400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr3:112192000-112192400	Enhancers	HepG2	liver
38	chr3:112192000-112194200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr3:112192000-112194400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
40	chr3:112192000-112194600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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