Variant report

Variant	rs7532709
Chromosome Location	chr1:209925616-209925617
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	EP300	chr1:209925013-209925709	GM12878	blood:	n/a	chr1:209925631-209925641 chr1:209925095-209925109
2	BCLAF1	chr1:209924809-209925780	GM12878	blood:	n/a	chr1:209925691-209925698
3	STAT5A	chr1:209924960-209925710	GM12878	blood:	n/a	chr1:209925014-209925025 chr1:209925334-209925348
4	BATF	chr1:209925147-209925724	GM12878	blood:	n/a	n/a
5	CEBPB	chr1:209925344-209925646	GM12878	blood:	n/a	n/a
6	RUNX3	chr1:209924756-209925848	GM12878	blood:	n/a	n/a
7	ATF2	chr1:209924743-209925745	GM12878	blood:	n/a	n/a
8	RELA	chr1:209924865-209925732	GM19099	blood:	n/a	n/a
9	TBL1XR1	chr1:209924863-209925793	GM12878	blood:	n/a	n/a
10	MXI1	chr1:209924887-209925733	GM12878	blood:	n/a	n/a
11	NFATC1	chr1:209924797-209925722	GM12878	blood:	n/a	n/a
12	MEF2A	chr1:209924798-209925696	GM12878	blood:	n/a	chr1:209924807-209924828
13	ATF1	chr1:209925463-209925855	K562	blood:	n/a	n/a
14	STAT5A	chr1:209924769-209925797	GM12878	blood:	n/a	chr1:209925014-209925025 chr1:209925334-209925348
15	PML	chr1:209924792-209925908	GM12878	blood:	n/a	n/a
16	RCOR1	chr1:209924898-209925791	GM12878	blood:	n/a	n/a
17	POU2F2	chr1:209925046-209925720	GM12878	blood:	n/a	n/a
18	MEF2C	chr1:209924849-209925764	GM12878	blood:	n/a	n/a
19	SP1	chr1:209924849-209925716	GM12878	blood:	n/a	chr1:209925161-209925175
20	EP300	chr1:209924883-209925836	GM12878	blood:	n/a	chr1:209925009-209925023 chr1:209925631-209925641 chr1:209925004-209925018 chr1:209925095-209925109
21	ZNF143	chr1:209925111-209925655	GM12878	blood:	n/a	n/a
22	JUND	chr1:209924949-209925674	GM12878	blood:	n/a	chr1:209925565-209925573
23	BCLAF1	chr1:209925143-209925814	GM12878	blood:	n/a	chr1:209925691-209925698
24	POLR2A	chr1:209925132-209925716	GM12892	blood:	n/a	n/a
25	WRNIP1	chr1:209925116-209925740	GM12878	blood:	n/a	n/a
26	ATF2	chr1:209924760-209925773	GM12878	blood:	n/a	n/a
27	EBF1	chr1:209924969-209925747	GM12878	blood:	n/a	n/a
28	IRF4	chr1:209925116-209925765	GM12878	blood:	n/a	n/a
29	MTA3	chr1:209924762-209925743	GM12878	blood:	n/a	n/a
30	CHD2	chr1:209925030-209925623	GM12878	blood:	n/a	n/a
31	PML	chr1:209925272-209925658	GM12878	blood:	n/a	n/a
32	BCL3	chr1:209924918-209925636	GM12878	blood:	n/a	n/a
33	FOXM1	chr1:209924721-209925874	GM12878	blood:	n/a	n/a
34	FOXM1	chr1:209924714-209925823	GM12878	blood:	n/a	n/a
35	POU2F2	chr1:209925302-209925632	GM12878	blood:	n/a	n/a
36	PAX5	chr1:209924882-209925803	GM12878	blood:	n/a	chr1:209925009-209925018
37	EP300	chr1:209924906-209925782	GM12878	blood:	n/a	chr1:209925009-209925023 chr1:209925631-209925641 chr1:209925004-209925018 chr1:209925095-209925109
38	MTA3	chr1:209924730-209925849	GM12878	blood:	n/a	n/a
39	IRF4	chr1:209924797-209925819	GM12878	blood:	n/a	n/a
40	BHLHE40	chr1:209924890-209925736	GM12878	blood:	n/a	n/a
41	BCL11A	chr1:209925293-209925660	GM12878	blood:	n/a	n/a
42	MAZ	chr1:209924834-209925659	GM12878	blood:	n/a	n/a
43	MEF2A	chr1:209924880-209925762	GM12878	blood:	n/a	n/a
44	BATF	chr1:209924750-209925876	GM12878	blood:	n/a	n/a
45	JUND	chr1:209924796-209925919	GM12878	blood:	n/a	chr1:209925565-209925573
46	SMC3	chr1:209924943-209925850	GM12878	blood:	n/a	chr1:209925561-209925569
47	IKZF1	chr1:209924755-209925835	GM12878	blood:	n/a	n/a
48	RUNX3	chr1:209924679-209925814	GM12878	blood:	n/a	n/a
49	NFIC	chr1:209924691-209925783	GM12878	blood:	n/a	n/a
50	NFATC1	chr1:209924803-209925740	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209754061..209755961-chr1:209923961..209926598,2	K562	blood:

Variant related genes	Relation type
TRAF3IP3	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17015137	0.87[LWK][hapmap]
rs7513155	0.83[MKK][hapmap]
rs7528642	0.87[YRI][hapmap];0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1006632	chr1:209886202-209970355	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1001588	chr1:209908876-209938243	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr1:209921400-209929800	Weak transcription	Right Atrium	heart
2	chr1:209921400-209930000	Weak transcription	Right Ventricle	heart
3	chr1:209921600-209926600	Enhancers	Primary T cells fromperipheralblood	blood
4	chr1:209921600-209926600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:209921600-209926800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr1:209921800-209929600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:209921800-209930000	Weak transcription	Stomach Mucosa	stomach
8	chr1:209921800-209940800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:209921800-209942000	Weak transcription	Pancreas	Pancrea
10	chr1:209922000-209928800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr1:209922400-209931200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:209923800-209926600	Enhancers	Primary B cells from cord blood	blood
13	chr1:209923800-209926600	Enhancers	Primary B cells from peripheral blood	blood
14	chr1:209924200-209926000	Enhancers	Primary hematopoietic stem cells	blood
15	chr1:209924200-209926000	Enhancers	Duodenum Mucosa	Duodenum
16	chr1:209924600-209926000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr1:209924600-209926000	Flanking Active TSS	GM12878-XiMat	blood
18	chr1:209924800-209925800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr1:209924800-209925800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr1:209924800-209926000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr1:209924800-209926000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:209924800-209926000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr1:209924800-209926000	Enhancers	Fetal Thymus	thymus
24	chr1:209925000-209926000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:209925000-209926200	Enhancers	Fetal Intestine Large	intestine
26	chr1:209925200-209925800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:209925200-209925800	Enhancers	Fetal Intestine Small	intestine
28	chr1:209925400-209925800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:209925400-209925800	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr1:209925400-209926000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:209925400-209926000	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr1:209925400-209926000	Enhancers	K562	blood
33	chr1:209925400-209928400	Weak transcription	Thymus	Thymus
34	chr1:209925400-209929000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr1:209925600-209925800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:209925600-209925800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr1:209925600-209926000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:209925600-209926800	Enhancers	Primary T cells from cord blood	blood
39	chr1:209925600-209928600	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr1:209925600-209929000	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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