Variant report

Variant	rs527683728
Chromosome Location	chr7:137531515-137531516
allele	-/GGCGGC
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	ZNF143	chr7:137531393-137532391	H1-hESC	embryonic stem cell:	n/a	chr7:137531885-137531903
2	POLR2A	chr7:137531514-137531979	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr7:137528869-137533706	HepG2	liver:	n/a	n/a
4	RAD21	chr7:137531505-137532449	H1-hESC	embryonic stem cell:	n/a	chr7:137532042-137532056 chr7:137532333-137532343 chr7:137532008-137532027
5	ELF1	chr7:137530932-137532469	GM12878	blood:	n/a	chr7:137532396-137532407 chr7:137531161-137531173 chr7:137531126-137531135
6	YY1	chr7:137531297-137531935	SK-N-SH_RA	brain:	n/a	n/a
7	YY1	chr7:137531283-137531679	GM12892	blood:	n/a	n/a
8	POLR2A	chr7:137531239-137532224	A549	lung:	n/a	n/a
9	YY1	chr7:137531269-137531627	GM12878	blood:	n/a	n/a
10	YY1	chr7:137531329-137531743	GM12891	blood:	n/a	n/a
11	RAD21	chr7:137531502-137531909	IMR90	lung:	n/a	n/a
12	FOSL2	chr7:137530926-137532719	HepG2	liver:	n/a	n/a
13	HDAC2	chr7:137531482-137531730	HepG2	liver:	n/a	n/a
14	ZEB1	chr7:137531508-137531865	GM12878	blood:	n/a	n/a
15	RCOR1	chr7:137531482-137531845	GM12878	blood:	n/a	n/a
16	POLR2A	chr7:137531423-137531942	U87	brain:	n/a	n/a
17	RCOR1	chr7:137531496-137531790	K562	blood:	n/a	n/a
18	TAF1	chr7:137531509-137531766	SK-N-SH	brain:	n/a	n/a
19	TAF1	chr7:137531408-137531904	H1-neurons	neurons:	n/a	n/a
20	POLR2A	chr7:137530825-137532531	H1-neurons	neurons:	n/a	n/a
21	MAX	chr7:137531259-137531951	SK-N-SH	brain:	n/a	chr7:137531929-137531939
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	YY1	chr7:137531160-137531890	HepG2	liver:	n/a	n/a
25	MAZ	chr7:137529826-137532738	IMR90	lung:	n/a	chr7:137532088-137532098 chr7:137531929-137531939
26	RUNX3	chr7:137531421-137531801	GM12878	blood:	n/a	n/a
27	TAF1	chr7:137531321-137532554	H1-neurons	neurons:	n/a	n/a
28	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
29	RCOR1	chr7:137531437-137531781	HepG2	liver:	n/a	n/a
30	POLR2A	chr7:137531159-137532487	GM18951	blood:	n/a	n/a
31	REST	chr7:137531451-137531888	SK-N-SH	brain:	n/a	n/a
32	YY1	chr7:137531477-137531870	SK-N-SH_RA	brain:	n/a	n/a
33	YY1	chr7:137531251-137531760	H1-hESC	embryonic stem cell:	n/a	n/a
34	REST	chr7:137531502-137531970	H1-neurons	neurons:	n/a	n/a
35	YY1	chr7:137531385-137531874	H1-hESC	embryonic stem cell:	n/a	n/a
36	RCOR1	chr7:137530572-137532473	IMR90	lung:	n/a	n/a
37	ZNF143	chr7:137531443-137531822	GM12878	blood:	n/a	n/a
38	POLR2A	chr7:137531425-137531889	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
DGKI	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	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
5	esv3357399	chr7:137531162-137532160	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:99 , 50 per page) page: 1 2

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	chr7:137530400-137531800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr7:137530400-137531800	Active TSS	NH-A	brain
6	chr7:137530400-137532800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:137530600-137531800	Bivalent/Poised TSS	GM12878-XiMat	blood
8	chr7:137530600-137532400	Active TSS	HSMM	muscle
9	chr7:137530800-137531600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:137530800-137531800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
11	chr7:137530800-137532000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:137530800-137532400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr7:137530800-137532400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr7:137530800-137532400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:137530800-137532400	Active TSS	Brain Cingulate Gyrus	brain
16	chr7:137530800-137532600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr7:137530800-137532600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
18	chr7:137530800-137532600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr7:137530800-137532600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:137530800-137532600	Active TSS	Fetal Brain Female	brain
21	chr7:137530800-137532800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:137530800-137532800	Active TSS	Brain Angular Gyrus	brain
23	chr7:137531000-137531600	Active TSS	Right Atrium	heart
24	chr7:137531000-137531800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
25	chr7:137531000-137531800	Bivalent/Poised TSS	Esophagus	oesophagus
26	chr7:137531000-137531800	Active TSS	HSMMtube	muscle
27	chr7:137531000-137532000	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr7:137531000-137532000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
29	chr7:137531000-137532000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
30	chr7:137531000-137532000	Bivalent/Poised TSS	A549	lung
31	chr7:137531000-137532000	Bivalent Enhancer	HUVEC	blood vessel
32	chr7:137531000-137532000	Active TSS	NHLF	lung
33	chr7:137531000-137532200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
34	chr7:137531000-137532200	Bivalent Enhancer	Primary B cells from cord blood	blood
35	chr7:137531000-137532200	Active TSS	Aorta	Aorta
36	chr7:137531000-137532200	Active TSS	NHDF-Ad	bronchial
37	chr7:137531000-137532400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:137531000-137532400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
39	chr7:137531000-137532400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr7:137531000-137532400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
41	chr7:137531000-137532400	Flanking Active TSS	Right Ventricle	heart
42	chr7:137531000-137532400	Enhancers	Spleen	Spleen
43	chr7:137531000-137532600	Bivalent Enhancer	Placenta	Placenta
44	chr7:137531000-137532800	Enhancers	Liver	Liver
45	chr7:137531000-137532800	Active TSS	Brain Hippocampus Middle	brain
46	chr7:137531200-137531600	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:137531200-137531600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
48	chr7:137531200-137531600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:137531200-137531600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:137531200-137531600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin

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