Variant report

Variant	rs11144991
Chromosome Location	chr9:79261414-79261415
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	GATA2	chr9:79261280-79261557	SH-SY5Y	brain:	n/a	chr9:79261505-79261515
2	TCF12	chr9:79261132-79261693	ECC-1	luminal epithelium:	n/a	n/a
3	NR3C1	chr9:79261236-79261525	ECC-1	luminal epithelium:	n/a	n/a
4	KAP1	chr9:79261266-79261595	HEK293	kidney:	n/a	n/a
5	GATA3	chr9:79261108-79261738	SK-N-SH	brain:	n/a	chr9:79261505-79261515
6	NFIC	chr9:79260785-79261840	ECC-1	luminal epithelium:	n/a	chr9:79261449-79261466 chr9:79261450-79261466
7	NR3C1	chr9:79261149-79261562	ECC-1	luminal epithelium:	n/a	n/a
8	GATA3	chr9:79261073-79261707	SK-N-SH	brain:	n/a	chr9:79261505-79261515
9	EP300	chr9:79260989-79261791	ECC-1	luminal epithelium:	n/a	n/a
10	NFIC	chr9:79261006-79261774	ECC-1	luminal epithelium:	n/a	chr9:79261449-79261466 chr9:79261450-79261466
11	MAX	chr9:79261279-79261492	K562	blood:	n/a	n/a
12	RCOR1	chr9:79261365-79261501	K562	blood:	n/a	n/a
13	E2F6	chr9:79261322-79261490	K562	blood:	n/a	n/a
14	BHLHE40	chr9:79261397-79261562	K562	blood:	n/a	n/a
15	GATA2	chr9:79261173-79261681	HUVEC	blood vessel:	n/a	chr9:79261505-79261515
16	GATA1	chr9:79261231-79261673	PBDE	blood:	n/a	chr9:79261505-79261515

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:79255042..79257003-chr9:79260887..79262943,2	K562	blood:
2	chr9:79260136..79261869-chr9:79266939..79269421,2	MCF-7	breast:

Variant related genes	Relation type
PRUNE2	TF binding region
ENSG00000106772	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10119518	1.00[EUR][1000 genomes]
rs10121652	1.00[EUR][1000 genomes]
rs10123325	1.00[EUR][1000 genomes]
rs10521473	1.00[EUR][1000 genomes]
rs10869794	1.00[YRI][hapmap]
rs11144988	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11144993	1.00[EUR][1000 genomes]
rs11144999	1.00[YRI][hapmap]
rs12000064	1.00[YRI][hapmap]
rs12336287	1.00[EUR][1000 genomes]
rs12337785	1.00[EUR][1000 genomes]
rs12340696	1.00[EUR][1000 genomes]
rs12342460	1.00[EUR][1000 genomes]
rs12345816	1.00[EUR][1000 genomes]
rs12351220	1.00[EUR][1000 genomes]
rs1346041	1.00[EUR][1000 genomes]
rs17062959	1.00[EUR][1000 genomes]
rs17062964	1.00[EUR][1000 genomes]
rs17062967	1.00[EUR][1000 genomes]
rs17081141	1.00[EUR][1000 genomes]
rs17081142	1.00[EUR][1000 genomes]
rs2015354	1.00[EUR][1000 genomes]
rs28470485	1.00[EUR][1000 genomes]
rs28576740	1.00[EUR][1000 genomes]
rs28587388	1.00[EUR][1000 genomes]
rs28635278	1.00[EUR][1000 genomes]
rs55725331	1.00[EUR][1000 genomes]
rs55825540	1.00[EUR][1000 genomes]
rs56026497	1.00[EUR][1000 genomes]
rs56143215	1.00[EUR][1000 genomes]
rs56145880	1.00[EUR][1000 genomes]
rs56679509	1.00[EUR][1000 genomes]
rs57802610	1.00[EUR][1000 genomes]
rs60467484	1.00[EUR][1000 genomes]
rs6560530	1.00[EUR][1000 genomes]
rs7044442	1.00[EUR][1000 genomes]
rs73449878	1.00[EUR][1000 genomes]
rs73449890	1.00[EUR][1000 genomes]
rs73449896	1.00[EUR][1000 genomes]
rs73452104	1.00[EUR][1000 genomes]
rs73454158	1.00[EUR][1000 genomes]
rs73650254	1.00[EUR][1000 genomes]
rs73650286	1.00[EUR][1000 genomes]
rs73650287	1.00[EUR][1000 genomes]
rs73650987	1.00[EUR][1000 genomes]
rs73650989	1.00[EUR][1000 genomes]
rs73650990	1.00[EUR][1000 genomes]
rs73650991	1.00[EUR][1000 genomes]
rs73650992	1.00[EUR][1000 genomes]
rs73650994	1.00[EUR][1000 genomes]
rs73650996	1.00[EUR][1000 genomes]
rs73650997	1.00[EUR][1000 genomes]
rs73650998	1.00[EUR][1000 genomes]
rs73650999	1.00[EUR][1000 genomes]
rs73651000	1.00[EUR][1000 genomes]
rs73651001	1.00[EUR][1000 genomes]
rs7848842	1.00[EUR][1000 genomes]
rs7850310	1.00[EUR][1000 genomes]
rs7855826	1.00[EUR][1000 genomes]
rs7867080	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7875591	1.00[EUR][1000 genomes]
rs867646	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893479	chr9:78971253-79275226	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv949417	chr9:79078703-79282589	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1040363	chr9:79246366-79711737	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv3345842	chr9:79260247-79263783	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79225400-79265600	Weak transcription	Fetal Muscle Leg	muscle
2	chr9:79249600-79265400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr9:79249600-79265600	Weak transcription	NHDF-Ad	bronchial
4	chr9:79249600-79265600	Weak transcription	NHLF	lung
5	chr9:79252600-79278000	Weak transcription	Gastric	stomach
6	chr9:79254000-79263000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr9:79255800-79265800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr9:79258000-79261600	Strong transcription	Stomach Smooth Muscle	stomach
9	chr9:79258000-79262600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr9:79258000-79265600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr9:79258000-79270000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr9:79258200-79265600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:79258200-79265600	Weak transcription	Adipose Nuclei	Adipose
14	chr9:79258200-79265800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr9:79258200-79267800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr9:79259000-79261600	Genic enhancers	Fetal Intestine Small	intestine
17	chr9:79259000-79262600	Weak transcription	Brain Anterior Caudate	brain
18	chr9:79259000-79269200	Weak transcription	Brain Substantia Nigra	brain
19	chr9:79259000-79278000	Weak transcription	Spleen	Spleen
20	chr9:79259200-79262400	Weak transcription	Fetal Stomach	stomach
21	chr9:79259200-79265600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr9:79259200-79265600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr9:79259400-79264800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr9:79259400-79264800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr9:79259400-79265200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr9:79259400-79265600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr9:79259400-79265600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr9:79259800-79262600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr9:79259800-79263200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr9:79259800-79263400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr9:79259800-79264800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr9:79259800-79264800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr9:79259800-79265600	Weak transcription	Primary B cells from cord blood	blood
34	chr9:79259800-79265600	Weak transcription	Stomach Mucosa	stomach
35	chr9:79260000-79262600	Weak transcription	Colon Smooth Muscle	Colon
36	chr9:79260000-79263000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr9:79260000-79265400	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr9:79260000-79282400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr9:79260200-79261600	Weak transcription	HSMMtube	muscle
40	chr9:79260200-79265400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr9:79260200-79265400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr9:79260200-79265600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr9:79260200-79266200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr9:79260400-79265600	Weak transcription	Small Intestine	intestine
45	chr9:79260600-79261600	Enhancers	Brain Hippocampus Middle	brain
46	chr9:79260800-79261600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr9:79260800-79261800	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr9:79261000-79261600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr9:79261000-79261600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr9:79261000-79261600	Enhancers	Muscle Satellite Cultured Cells	--

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