Variant report

Variant	rs2429249
Chromosome Location	chr7:151037369-151037370
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	RELA	chr7:151036629-151037442	GM19099	blood:	n/a	n/a
2	MTA3	chr7:151036683-151037479	GM12878	blood:	n/a	n/a
3	BCLAF1	chr7:151036945-151037505	GM12878	blood:	n/a	n/a
4	ATF2	chr7:151036720-151037481	GM12878	blood:	n/a	n/a
5	BATF	chr7:151036970-151037448	GM12878	blood:	n/a	n/a
6	YY1	chr7:151037065-151037457	GM12878	blood:	n/a	n/a
7	IRF1	chr7:151037145-151037374	K562	blood:	n/a	chr7:151037257-151037271 chr7:151037255-151037269 chr7:151037256-151037273 chr7:151037257-151037268 chr7:151037258-151037269 chr7:151037219-151037236 chr7:151037256-151037268 chr7:151037317-151037331 chr7:151037255-151037268 chr7:151037257-151037267 chr7:151037253-151037267 chr7:151037256-151037268
8	ZNF384	chr7:151037119-151037452	GM12878	blood:	n/a	n/a
9	TBL1XR1	chr7:151036363-151037419	GM12878	blood:	n/a	n/a
10	YY1	chr7:151036980-151037437	GM12878	blood:	n/a	n/a
11	BHLHE40	chr7:151036498-151037454	GM12878	blood:	n/a	n/a
12	BATF	chr7:151037054-151037441	GM12878	blood:	n/a	n/a
13	RCOR1	chr7:151036930-151037418	GM12878	blood:	n/a	n/a
14	RUNX3	chr7:151036367-151037503	GM12878	blood:	n/a	n/a
15	NFIC	chr7:151036794-151037512	GM12878	blood:	n/a	n/a
16	YY1	chr7:151037050-151037437	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150932407..150934552-chr7:151037359..151040324,2	K562	blood:
2	chr7:150899283..150901637-chr7:151035774..151038762,2	K562	blood:
3	chr7:151031921..151034543-chr7:151036343..151038767,2	K562	blood:
4	chr7:151020134..151022018-chr7:151036761..151038559,2	MCF-7	breast:
5	chr7:151036395..151039308-chr7:151063026..151066018,3	K562	blood:

Variant related genes	Relation type
NUB1	TF binding region
ENSG00000013374	Chromatin interaction
ENSG00000033100	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10244595	1.00[AMR][1000 genomes]
rs2487148	1.00[AMR][1000 genomes]
rs2792450	1.00[AMR][1000 genomes]
rs57667546	1.00[AMR][1000 genomes]
rs61163467	1.00[AMR][1000 genomes]
rs73727482	1.00[AMR][1000 genomes]
rs7793181	1.00[ASW][hapmap];1.00[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794696	chr7:151023630-151049503	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:151034000-151037400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:151034800-151038200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:151035800-151038400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:151035800-151038800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr7:151036000-151038200	Weak transcription	Right Atrium	heart
6	chr7:151036400-151038800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr7:151036600-151037800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr7:151036600-151037800	Flanking Active TSS	HepG2	liver
9	chr7:151036600-151038200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr7:151036600-151038400	Enhancers	Primary B cells from peripheral blood	blood
11	chr7:151036800-151037600	Enhancers	Fetal Thymus	thymus
12	chr7:151036800-151038200	Enhancers	K562	blood
13	chr7:151036800-151038400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr7:151036800-151038400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr7:151036800-151038400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:151036800-151038400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr7:151036800-151038400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:151036800-151038600	Flanking Active TSS	GM12878-XiMat	blood
19	chr7:151037000-151037400	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr7:151037000-151037400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:151037000-151037400	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr7:151037000-151037400	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr7:151037000-151037600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:151037000-151037800	Flanking Active TSS	Duodenum Mucosa	Duodenum
25	chr7:151037000-151038200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr7:151037000-151038200	Enhancers	Brain Hippocampus Middle	brain
27	chr7:151037000-151038200	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr7:151037000-151038200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr7:151037000-151038800	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr7:151037000-151038800	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr7:151037200-151037400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr7:151037200-151037400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:151037200-151037600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr7:151037200-151037600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr7:151037200-151037600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr7:151037200-151037600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:151037200-151037600	Enhancers	Brain Cingulate Gyrus	brain
38	chr7:151037200-151037600	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr7:151037200-151038600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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