Variant report

Variant	rs72829866
Chromosome Location	chr2:113926835-113926836
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	MTA3	chr2:113926422-113926917	GM12878	blood:	n/a	n/a
2	RUNX3	chr2:113926423-113926894	GM12878	blood:	n/a	n/a
3	YY1	chr2:113926576-113926913	GM12892	blood:	n/a	n/a
4	YY1	chr2:113926547-113926934	GM12892	blood:	n/a	n/a
5	SPI1	chr2:113926461-113926909	HL-60	blood:	n/a	chr2:113926543-113926556
6	SPI1	chr2:113926473-113926950	GM12891	blood:	n/a	chr2:113926543-113926556
7	SPI1	chr2:113926545-113926853	GM12878	blood:	n/a	n/a
8	YY1	chr2:113926554-113926868	GM12891	blood:	n/a	n/a
9	SPI1	chr2:113926298-113926958	GM12878	blood:	n/a	chr2:113926543-113926556
10	RUNX3	chr2:113926498-113926898	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:113914549..113919498-chr2:113924195..113928065,4	K562	blood:
2	chr2:113914220..113919352-chr2:113920287..113927373,11	MCF-7	breast:
3	chr2:113920324..113921949-chr2:113926011..113928205,2	MCF-7	breast:
4	chr2:113920848..113928426-chr2:113929867..113935117,10	K562	blood:

Variant related genes	Relation type
PSD4	TF binding region
ENSG00000125637	Chromatin interaction
ENSG00000234174	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs45491191	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45567336	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45627335	0.90[EUR][1000 genomes]
rs57763675	0.93[EUR][1000 genomes]
rs72829867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv582711	chr2:113895516-113984503	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113916000-113939000	Weak transcription	Right Atrium	heart
2	chr2:113921000-113927600	Enhancers	Liver	Liver
3	chr2:113921800-113927000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:113922400-113930200	Weak transcription	Small Intestine	intestine
5	chr2:113922800-113930400	Weak transcription	Fetal Stomach	stomach
6	chr2:113923000-113930200	Weak transcription	Lung	lung
7	chr2:113923000-113931200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:113923000-113932200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:113923000-113951800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:113923000-113956000	Weak transcription	HMEC	breast
11	chr2:113923200-113931600	Weak transcription	Brain Anterior Caudate	brain
12	chr2:113923800-113927600	Enhancers	Pancreas	Pancrea
13	chr2:113923800-113931400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:113923800-113937800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:113924200-113927600	Enhancers	Fetal Thymus	thymus
16	chr2:113924200-113928000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr2:113924400-113927600	Enhancers	Primary B cells from cord blood	blood
18	chr2:113924600-113927000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr2:113924600-113927000	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr2:113924600-113927000	Enhancers	Spleen	Spleen
21	chr2:113924800-113927000	Enhancers	Thymus	Thymus
22	chr2:113924800-113927600	Strong transcription	NHEK	skin
23	chr2:113924800-113928000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:113925200-113930000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr2:113925200-113930800	Enhancers	Primary B cells from peripheral blood	blood
26	chr2:113925400-113928000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:113925400-113928800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:113925400-113930400	Weak transcription	K562	blood
29	chr2:113925400-113931000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:113925600-113927800	Strong transcription	Fetal Intestine Small	intestine
31	chr2:113925600-113928200	Enhancers	HepG2	liver
32	chr2:113925600-113930200	Weak transcription	Fetal Intestine Large	intestine
33	chr2:113925800-113927000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr2:113925800-113927000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:113925800-113927600	Enhancers	GM12878-XiMat	blood
36	chr2:113925800-113929600	Weak transcription	Stomach Mucosa	stomach
37	chr2:113926000-113929600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr2:113926200-113930200	Weak transcription	Colonic Mucosa	Colon
39	chr2:113926400-113927000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:113926400-113927600	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr2:113926400-113927600	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr2:113926600-113930200	Weak transcription	Placenta	Placenta
43	chr2:113926600-113930200	Weak transcription	Gastric	stomach
44	chr2:113926600-113930600	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr2:113926600-113931000	Enhancers	Primary T cells fromperipheralblood	blood
46	chr2:113926600-113931000	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr2:113926600-113932600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:113926800-113927600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:113926800-113927800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:113926800-113928000	Enhancers	Primary T cells from cord blood	blood

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