Variant report

Variant	rs1109272
Chromosome Location	chr7:137532199-137532200
allele	A/C
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	MXI1	chr7:137532191-137532502	GM12878	blood:	n/a	n/a
2	ZNF143	chr7:137531393-137532391	H1-hESC	embryonic stem cell:	n/a	chr7:137531885-137531903
3	RAD21	chr7:137531525-137532516	SK-N-SH_RA	brain:	n/a	chr7:137532042-137532056 chr7:137532333-137532343 chr7:137532008-137532027
4	POLR2A	chr7:137528869-137533706	HepG2	liver:	n/a	n/a
5	RAD21	chr7:137531505-137532449	H1-hESC	embryonic stem cell:	n/a	chr7:137532042-137532056 chr7:137532333-137532343 chr7:137532008-137532027
6	ELF1	chr7:137530932-137532469	GM12878	blood:	n/a	chr7:137532396-137532407 chr7:137531161-137531173 chr7:137531126-137531135
7	MAZ	chr7:137532164-137532632	GM12878	blood:	n/a	n/a
8	POLR2A	chr7:137531916-137532758	GM12891	blood:	n/a	n/a
9	POLR2A	chr7:137531239-137532224	A549	lung:	n/a	n/a
10	RAD21	chr7:137531627-137532420	H1-hESC	embryonic stem cell:	n/a	chr7:137532042-137532056 chr7:137532333-137532343 chr7:137532008-137532027
11	POLR2A	chr7:137531711-137532801	GM12878	blood:	n/a	n/a
12	RUNX3	chr7:137532123-137532751	GM12878	blood:	n/a	n/a
13	FOSL2	chr7:137530926-137532719	HepG2	liver:	n/a	n/a
14	TBP	chr7:137532084-137532430	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr7:137530825-137532531	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr7:137532173-137532569	GM12878	blood:	n/a	n/a
17	ZNF143	chr7:137532150-137532221	GM12878	blood:	n/a	n/a
18	POLR2A	chr7:137531524-137533533	U87	brain:	n/a	n/a
19	POLR2A	chr7:137531548-137532466	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:137531657-137532789	GM12891	blood:	n/a	n/a
21	RCOR1	chr7:137532199-137532710	GM12878	blood:	n/a	n/a
22	CTBP2	chr7:137531074-137532426	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr7:137530510-137532617	H1-neurons	neurons:	n/a	n/a
24	POLR2A	chr7:137531676-137533830	GM12878	blood:	n/a	n/a
25	POLR2A	chr7:137531665-137532475	HepG2	liver:	n/a	n/a
26	POLR2A	chr7:137531966-137532302	U87	brain:	n/a	n/a
27	MAZ	chr7:137529826-137532738	IMR90	lung:	n/a	chr7:137532088-137532098 chr7:137531929-137531939
28	POLR2A	chr7:137531666-137532393	GM12878	blood:	n/a	n/a
29	POLR2A	chr7:137531957-137533928	K562	blood:	n/a	n/a
30	TAF1	chr7:137531321-137532554	H1-neurons	neurons:	n/a	n/a
31	REST	chr7:137530718-137532753	H1-neurons	neurons:	n/a	chr7:137531960-137531974 chr7:137532361-137532374 chr7:137531954-137531974 chr7:137531988-137532001 chr7:137531954-137531974 chr7:137532042-137532055 chr7:137531954-137531974
32	SIN3AK20	chr7:137531561-137532381	SK-N-SH	brain:	n/a	n/a
33	GABPA	chr7:137532114-137532455	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr7:137531159-137532487	GM18951	blood:	n/a	n/a
35	POLR2A	chr7:137531715-137532764	GM12891	blood:	n/a	n/a
36	RCOR1	chr7:137530572-137532473	IMR90	lung:	n/a	n/a
37	POLR2A	chr7:137531524-137533562	U87	brain:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKR1D1-5	chr7:137531776-137533814	NONHSAT123588

Variant related genes	Relation type
DGKI	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10260637	0.80[EUR][1000 genomes]
rs1871213	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34309725	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6974718	0.80[EUR][1000 genomes]
rs6978230	0.85[EUR][1000 genomes];0.97[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	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv3406613	chr7:137530437-137532985	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	esv3342190	chr7:137530512-137532910	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137527200-137532600	Active TSS	Brain Anterior Caudate	brain
2	chr7:137528600-137532800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:137528800-137532800	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr7:137530400-137532800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:137530600-137532400	Active TSS	HSMM	muscle
6	chr7:137530800-137532400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr7:137530800-137532400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr7:137530800-137532400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:137530800-137532400	Active TSS	Brain Cingulate Gyrus	brain
10	chr7:137530800-137532600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr7:137530800-137532600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr7:137530800-137532600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr7:137530800-137532600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:137530800-137532600	Active TSS	Fetal Brain Female	brain
15	chr7:137530800-137532800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:137530800-137532800	Active TSS	Brain Angular Gyrus	brain
17	chr7:137531000-137532200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr7:137531000-137532200	Bivalent Enhancer	Primary B cells from cord blood	blood
19	chr7:137531000-137532200	Active TSS	Aorta	Aorta
20	chr7:137531000-137532200	Active TSS	NHDF-Ad	bronchial
21	chr7:137531000-137532400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:137531000-137532400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
23	chr7:137531000-137532400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:137531000-137532400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
25	chr7:137531000-137532400	Flanking Active TSS	Right Ventricle	heart
26	chr7:137531000-137532400	Enhancers	Spleen	Spleen
27	chr7:137531000-137532600	Bivalent Enhancer	Placenta	Placenta
28	chr7:137531000-137532800	Enhancers	Liver	Liver
29	chr7:137531000-137532800	Active TSS	Brain Hippocampus Middle	brain
30	chr7:137531200-137532200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:137531200-137532200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:137531200-137532200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:137531200-137532200	Active TSS	Brain Substantia Nigra	brain
34	chr7:137531200-137532200	Weak transcription	Fetal Brain Male	brain
35	chr7:137531200-137532400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:137531200-137532400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr7:137531200-137532400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
38	chr7:137531200-137532600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
39	chr7:137531200-137532800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
40	chr7:137531600-137532200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:137531600-137532400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr7:137531600-137532400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr7:137531600-137532400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:137531600-137532400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
45	chr7:137531600-137532600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:137531600-137532600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
47	chr7:137531800-137532200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:137531800-137532200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:137531800-137532200	Bivalent Enhancer	Fetal Lung	lung
50	chr7:137531800-137532200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle

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