Variant report

Variant	rs11072460
Chromosome Location	chr15:74280867-74280868
allele	G/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	JUND	chr15:74280035-74282439	SK-N-SH	brain:	n/a	chr15:74280603-74280614 chr15:74281363-74281374 chr15:74281361-74281371 chr15:74281910-74281917 chr15:74281360-74281372 chr15:74280607-74280615 chr15:74281361-74281371 chr15:74281910-74281919 chr15:74281361-74281371 chr15:74280605-74280617 chr15:74281361-74281371 chr15:74281910-74281918 chr15:74281361-74281370
2	RELA	chr15:74279890-74280872	GM12891	blood:	n/a	chr15:74280544-74280553 chr15:74280544-74280553
3	ELF1	chr15:74280459-74281092	GM12878	blood:	n/a	chr15:74280710-74280721
4	RELA	chr15:74280320-74280886	GM15510	blood:	n/a	chr15:74280544-74280553 chr15:74280544-74280553
5	EBF1	chr15:74280450-74280908	GM12878	blood:	n/a	n/a
6	IRF4	chr15:74280489-74280881	GM12878	blood:	n/a	n/a
7	STAT5A	chr15:74280400-74281336	GM12878	blood:	n/a	chr15:74280448-74280456
8	SPI1	chr15:74280486-74280980	HL-60	blood:	n/a	chr15:74280710-74280719 chr15:74280709-74280722 chr15:74280708-74280721 chr15:74280711-74280718
9	SPI1	chr15:74280439-74280974	GM12891	blood:	n/a	chr15:74280710-74280719 chr15:74280709-74280722 chr15:74280708-74280721 chr15:74280711-74280718
10	RCOR1	chr15:74279976-74280957	IMR90	lung:	n/a	n/a
11	SPI1	chr15:74280556-74280903	HL-60	blood:	n/a	chr15:74280710-74280719 chr15:74280709-74280722 chr15:74280708-74280721 chr15:74280711-74280718
12	SPI1	chr15:74280481-74280891	GM12891	blood:	n/a	chr15:74280710-74280719 chr15:74280709-74280722 chr15:74280708-74280721 chr15:74280711-74280718
13	POLR2A	chr15:74280797-74280935	HUVEC	blood vessel:	n/a	n/a
14	SPI1	chr15:74280197-74281248	GM12878	blood:	n/a	chr15:74280710-74280719 chr15:74280331-74280338 chr15:74280709-74280722 chr15:74280330-74280339 chr15:74280708-74280721 chr15:74280711-74280718
15	RUNX3	chr15:74280372-74280901	GM12878	blood:	n/a	n/a
16	POLR2A	chr15:74280235-74280884	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:74276805..74281902-chr15:74284117..74288991,5	K562	blood:
2	chr15:74218722..74220775-chr15:74280163..74281867,2	MCF-7	breast:
3	chr15:74278701..74281213-chr15:74283008..74286318,3	MCF-7	breast:

Variant related genes	Relation type
STOML1	TF binding region
ENSG00000129038	Chromatin interaction
ENSG00000067221	Chromatin interaction
ENSG00000140464	Chromatin interaction
ENSG00000261801	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11072468	0.93[ASN][1000 genomes]
rs11633520	0.81[AFR][1000 genomes]
rs16869	0.93[ASN][1000 genomes]
rs2304715	0.83[AFR][1000 genomes]
rs2415188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3816197	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3816198	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4993000	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7171694	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7174985	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7182319	0.97[ASN][1000 genomes]
rs9630436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758387	chr15:74215114-74464916	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS 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 lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv2760040	chr15:74215114-74464916	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv428308	chr15:74215114-74464916	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv833052	chr15:74250378-74377150	Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74272600-74283800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr15:74272800-74281000	Enhancers	Primary hematopoietic stem cells	blood
3	chr15:74273800-74283600	Enhancers	HMEC	breast
4	chr15:74273800-74283600	Enhancers	NHDF-Ad	bronchial
5	chr15:74273800-74283800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr15:74274600-74281800	Strong transcription	Brain Germinal Matrix	brain
7	chr15:74274600-74284000	Weak transcription	Ovary	ovary
8	chr15:74274800-74283800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr15:74275000-74281200	Weak transcription	K562	blood
10	chr15:74275000-74283600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr15:74275000-74284000	Weak transcription	Aorta	Aorta
12	chr15:74275600-74281400	Strong transcription	Primary T cells from cord blood	blood
13	chr15:74275800-74281400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:74275800-74281800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr15:74275800-74281800	Genic enhancers	Fetal Muscle Trunk	muscle
16	chr15:74275800-74281800	Genic enhancers	Placenta	Placenta
17	chr15:74275800-74282800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr15:74276000-74281000	Genic enhancers	Right Ventricle	heart
19	chr15:74276000-74281000	Genic enhancers	NHLF	lung
20	chr15:74276000-74281200	Genic enhancers	Lung	lung
21	chr15:74276000-74281800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
22	chr15:74276000-74282800	Weak transcription	Fetal Brain Male	brain
23	chr15:74276000-74283400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr15:74276200-74282800	Genic enhancers	Fetal Muscle Leg	muscle
25	chr15:74276200-74283000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr15:74276400-74281400	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr15:74276400-74281400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr15:74276600-74281800	Strong transcription	Brain Hippocampus Middle	brain
29	chr15:74276600-74282200	Strong transcription	Fetal Brain Female	brain
30	chr15:74276600-74282800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr15:74276600-74283000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr15:74276800-74281200	Weak transcription	Hela-S3	cervix
33	chr15:74276800-74282000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr15:74277000-74281200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr15:74277000-74281600	Genic enhancers	Stomach Smooth Muscle	stomach
36	chr15:74277200-74281000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr15:74277200-74282800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr15:74277400-74281600	Strong transcription	Brain Cingulate Gyrus	brain
39	chr15:74277600-74281200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr15:74277600-74283000	Weak transcription	Fetal Lung	lung
41	chr15:74277600-74283400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr15:74277800-74281400	Strong transcription	Fetal Intestine Small	intestine
43	chr15:74277800-74283400	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr15:74277800-74283600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr15:74277800-74283600	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr15:74278000-74281000	Weak transcription	Dnd41	blood
47	chr15:74278000-74282000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr15:74278000-74283400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr15:74278200-74281400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr15:74278400-74282200	Strong transcription	Fetal Stomach	stomach

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