Variant report

Variant	rs10750781
Chromosome Location	chr11:66037270-66037271
allele	A/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	SPI1	chr11:66036812-66037317	GM12891	blood:	n/a	chr11:66037007-66037020 chr11:66036868-66036881 chr11:66037006-66037019 chr11:66037007-66037020
2	SRF	chr11:66036563-66037289	MCF-7	breast:	n/a	chr11:66036620-66036630
3	POLR2A	chr11:66036722-66037293	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr11:66037267-66037326	HepG2	liver:	n/a	n/a
5	CHD1	chr11:66033899-66037453	IMR90	lung:	n/a	chr11:66036317-66036327
6	RUNX3	chr11:66036779-66037287	GM12878	blood:	n/a	n/a
7	JUND	chr11:66033919-66037286	SK-N-SH	brain:	n/a	n/a
8	SPI1	chr11:66036814-66037374	HL-60	blood:	n/a	chr11:66037007-66037020 chr11:66036868-66036881 chr11:66037006-66037019 chr11:66037007-66037020
9	SPI1	chr11:66036803-66037299	GM12878	blood:	n/a	chr11:66037007-66037020 chr11:66036868-66036881 chr11:66037006-66037019 chr11:66037007-66037020
10	CHD1	chr11:66036270-66037446	GM12878	blood:	n/a	chr11:66036317-66036327
11	SPI1	chr11:66036807-66037272	K562	blood:	n/a	chr11:66037007-66037020 chr11:66036868-66036881 chr11:66037006-66037019 chr11:66037007-66037020
12	NRF1	chr11:66034874-66037370	SK-N-SH	brain:	n/a	chr11:66035952-66035966 chr11:66036039-66036053 chr11:66036044-66036053 chr11:66035955-66035966 chr11:66036056-66036065 chr11:66035955-66035966 chr11:66036042-66036056 chr11:66036174-66036183 chr11:66035957-66035966 chr11:66035932-66035943 chr11:66036042-66036053 chr11:66035955-66035969
13	CTCF	chr11:66037140-66037290	GM12873	blood:	n/a	n/a
14	SPI1	chr11:66036746-66037436	GM12878	blood:	n/a	chr11:66037007-66037020 chr11:66036868-66036881 chr11:66037006-66037019 chr11:66037007-66037020
15	MAZ	chr11:66034023-66037356	IMR90	lung:	n/a	chr11:66036294-66036304
16	SPI1	chr11:66036734-66037488	HL-60	blood:	n/a	chr11:66037007-66037020 chr11:66036868-66036881 chr11:66037006-66037019 chr11:66037007-66037020
17	SPI1	chr11:66036748-66037395	GM12891	blood:	n/a	chr11:66037007-66037020 chr11:66036868-66036881 chr11:66037006-66037019 chr11:66037007-66037020
18	POLR2A	chr11:66036723-66037319	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:66034685-66037297	GM12892	blood:	n/a	n/a
20	PML	chr11:66034647-66037318	GM12878	blood:	n/a	n/a
21	HCFC1	chr11:66034785-66037532	Hela-S3	cervix:	n/a	n/a
22	SPI1	chr11:66036845-66037302	K562	blood:	n/a	chr11:66037007-66037020 chr11:66036868-66036881 chr11:66037006-66037019 chr11:66037007-66037020
23	MTA3	chr11:66036301-66037542	GM12878	blood:	n/a	n/a
24	SIN3AK20	chr11:66034743-66037307	MCF-7	breast:	n/a	n/a
25	ELF1	chr11:66035018-66037304	GM12878	blood:	n/a	chr11:66036302-66036313 chr11:66036137-66036149 chr11:66036302-66036313 chr11:66035933-66035945 chr11:66036141-66036150 chr11:66035932-66035941 chr11:66036138-66036147

No.	Distal block	Cell Line	Cell type
1	chr11:65624882..65627968-chr11:66034504..66038316,6	K562	blood:
2	chr11:66036063..66037921-chr11:66134364..66136433,2	K562	blood:
3	chr11:66034858..66038328-chr11:66053749..66060447,9	MCF-7	breast:
4	chr11:65728121..65730647-chr11:66035766..66038196,2	MCF-7	breast:
5	chr11:65657107..65659864-chr11:66036057..66038289,3	MCF-7	breast:
6	chr11:65655875..65658695-chr11:66035091..66037770,2	MCF-7	breast:
7	chr11:66036265..66039186-chr11:66074799..66077052,2	MCF-7	breast:
8	chr11:65624298..65626384-chr11:66036037..66037653,2	MCF-7	breast:
9	chr11:66035212..66038142-chr11:66136666..66139462,2	MCF-7	breast:
10	chr11:66034904..66037277-chr17:57914562..57916871,2	MCF-7	breast:
11	chr11:66035609..66037495-chr11:66113505..66115336,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254762	TF binding region
ENSG00000254855	TF binding region
ENSG00000172732	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000174669	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000174851	Chromatin interaction
ENSG00000174684	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000179292	Chromatin interaction

Extended variants
information (count: 118 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10750777	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10750778	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10750780	0.86[ASN][1000 genomes]
rs10791849	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10791850	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10791851	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10791852	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10791853	0.81[EUR][1000 genomes]
rs10791854	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10791855	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10791856	0.81[EUR][1000 genomes]
rs10791858	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10791859	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10791860	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10791861	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10791862	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10791863	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896077	0.83[EUR][1000 genomes]
rs10896080	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10896081	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10896085	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10896087	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10896089	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10896090	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10896091	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10896092	0.81[EUR][1000 genomes]
rs10896093	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10896094	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10896095	0.81[EUR][1000 genomes]
rs10896097	0.81[EUR][1000 genomes]
rs10896098	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10896099	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10896100	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10896105	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11227403	0.84[EUR][1000 genomes]
rs11227409	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11227410	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11227411	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11227413	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11227414	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11227415	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11227420	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11227426	0.82[EUR][1000 genomes]
rs11227433	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11227439	0.83[AFR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11227447	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227448	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227452	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11607393	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12049852	0.83[EUR][1000 genomes]
rs12226649	0.84[EUR][1000 genomes]
rs12797158	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12797586	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12800670	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1862005	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1987678	0.83[EUR][1000 genomes]
rs2017969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2155030	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2155031	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2155198	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2155201	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2177053	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2177054	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2236651	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2236652	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2276036	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282568	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2293121	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2298466	0.97[ASN][1000 genomes]
rs2298468	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2889313	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3088328	0.82[EUR][1000 genomes]
rs3132851	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814738	0.97[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825067	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3862386	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3953856	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4013917	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4393319	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4483592	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4604890	0.81[EUR][1000 genomes]
rs471484	0.81[EUR][1000 genomes]
rs476551	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs485857	0.81[EUR][1000 genomes]
rs488320	0.81[EUR][1000 genomes]
rs512421	0.96[ASN][1000 genomes]
rs535395	0.83[EUR][1000 genomes]
rs560393	0.91[ASN][1000 genomes]
rs571434	0.81[EUR][1000 genomes]
rs580891	0.83[EUR][1000 genomes]
rs6591207	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6591208	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7115081	0.84[EUR][1000 genomes]
rs7120326	0.84[EUR][1000 genomes]
rs7124165	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71270566	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7925123	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7926402	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7929909	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7931477	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7931544	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7935336	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7937281	0.81[EUR][1000 genomes]
rs7941431	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7941469	0.83[EUR][1000 genomes]
rs7942894	0.83[EUR][1000 genomes]
rs7943911	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7945723	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7946917	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7951079	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs918299	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9645684	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9736673	0.85[EUR][1000 genomes];0.87[ASN][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	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh 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	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10750781	RP11-755F10.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66034600-66037400	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr11:66034800-66037400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:66034800-66037400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:66034800-66037400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr11:66035600-66037400	Active TSS	NHLF	lung
6	chr11:66036000-66038000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:66036400-66037400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:66036400-66037400	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr11:66036400-66037400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
10	chr11:66036400-66037400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr11:66036400-66037400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:66036400-66037600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr11:66036400-66037600	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr11:66036400-66037600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr11:66036400-66037600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:66036400-66037600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:66036600-66037400	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr11:66036600-66037400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
19	chr11:66036600-66037400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr11:66036600-66037400	Flanking Active TSS	Fetal Brain Male	brain
21	chr11:66036600-66037400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
22	chr11:66036600-66037600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr11:66036600-66037600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:66036600-66037600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr11:66036600-66037600	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr11:66036600-66037800	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr11:66036600-66037800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr11:66036800-66037400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:66036800-66037400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr11:66036800-66037400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr11:66036800-66037400	Flanking Active TSS	Brain Angular Gyrus	brain
32	chr11:66036800-66037400	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr11:66036800-66037400	Flanking Active TSS	HMEC	breast
34	chr11:66036800-66037400	Flanking Active TSS	HUVEC	blood vessel
35	chr11:66036800-66037400	Flanking Active TSS	NH-A	brain
36	chr11:66036800-66037600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr11:66036800-66037600	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr11:66036800-66037600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:66036800-66037600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr11:66036800-66037600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:66036800-66037600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:66036800-66037600	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr11:66036800-66037600	Flanking Active TSS	Dnd41	blood
44	chr11:66036800-66037600	Flanking Active TSS	Hela-S3	cervix
45	chr11:66036800-66037600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr11:66036800-66037800	Flanking Active TSS	GM12878-XiMat	blood
47	chr11:66037000-66037400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:66037000-66037400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:66037000-66037400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr11:66037000-66037400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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