Variant report

Variant	rs564311171
Chromosome Location	chr7:137531656-137531657
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

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	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	TAF1	chr7:137531524-137531722	H1-hESC	embryonic stem cell:	n/a	n/a
8	YY1	chr7:137531297-137531935	SK-N-SH_RA	brain:	n/a	n/a
9	YY1	chr7:137531283-137531679	GM12892	blood:	n/a	n/a
10	POLR2A	chr7:137531239-137532224	A549	lung:	n/a	n/a
11	RAD21	chr7:137531627-137532420	H1-hESC	embryonic stem cell:	n/a	chr7:137532042-137532056 chr7:137532333-137532343 chr7:137532008-137532027
12	YY1	chr7:137531329-137531743	GM12891	blood:	n/a	n/a
13	NFYB	chr7:137531623-137531815	K562	blood:	n/a	n/a
14	RAD21	chr7:137531502-137531909	IMR90	lung:	n/a	n/a
15	FOSL2	chr7:137530926-137532719	HepG2	liver:	n/a	n/a
16	HDAC2	chr7:137531482-137531730	HepG2	liver:	n/a	n/a
17	ZEB1	chr7:137531508-137531865	GM12878	blood:	n/a	n/a
18	RCOR1	chr7:137531482-137531845	GM12878	blood:	n/a	n/a
19	RUNX3	chr7:137531525-137531712	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:137531423-137531942	U87	brain:	n/a	n/a
21	RCOR1	chr7:137531496-137531790	K562	blood:	n/a	n/a
22	TAF1	chr7:137531509-137531766	SK-N-SH	brain:	n/a	n/a
23	TAF1	chr7:137531408-137531904	H1-neurons	neurons:	n/a	n/a
24	POLR2A	chr7:137530825-137532531	H1-neurons	neurons:	n/a	n/a
25	MBD4	chr7:137531641-137532114	HepG2	liver:	n/a	n/a
26	TBP	chr7:137531575-137531773	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr7:137531524-137533533	U87	brain:	n/a	n/a
28	MAX	chr7:137531259-137531951	SK-N-SH	brain:	n/a	chr7:137531929-137531939
29	POLR2A	chr7:137531548-137532466	GM12878	blood:	n/a	n/a
30	CTBP2	chr7:137531074-137532426	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr7:137530510-137532617	H1-neurons	neurons:	n/a	n/a
32	POLR2A	chr7:137531638-137531662	HepG2	liver:	n/a	n/a
33	YY1	chr7:137531160-137531890	HepG2	liver:	n/a	n/a
34	MAZ	chr7:137529826-137532738	IMR90	lung:	n/a	chr7:137532088-137532098 chr7:137531929-137531939
35	RUNX3	chr7:137531421-137531801	GM12878	blood:	n/a	n/a
36	NFYB	chr7:137531530-137531875	GM12878	blood:	n/a	n/a
37	TAF1	chr7:137531321-137532554	H1-neurons	neurons:	n/a	n/a
38	MAZ	chr7:137531587-137531676	GM12878	blood:	n/a	n/a
39	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
40	SIN3AK20	chr7:137531561-137532381	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr7:137531592-137532125	IMR90	lung:	n/a	n/a
42	RCOR1	chr7:137531437-137531781	HepG2	liver:	n/a	n/a
43	POLR2A	chr7:137531159-137532487	GM18951	blood:	n/a	n/a
44	REST	chr7:137531451-137531888	SK-N-SH	brain:	n/a	n/a
45	REST	chr7:137531592-137531933	SK-N-SH	brain:	n/a	n/a
46	YY1	chr7:137531477-137531870	SK-N-SH_RA	brain:	n/a	n/a
47	YY1	chr7:137531251-137531760	H1-hESC	embryonic stem cell:	n/a	n/a
48	REST	chr7:137531502-137531970	H1-neurons	neurons:	n/a	n/a
49	YY1	chr7:137531385-137531874	H1-hESC	embryonic stem cell:	n/a	n/a
50	RCOR1	chr7:137530572-137532473	IMR90	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:137531612-137531662	PrEC	prostate:	n/a
2	chr7:137531612-137531662	GM12878	blood:	n/a
3	chr7:137531612-137531662	GM06990	blood:	n/a
4	chr7:137531612-137531662	BE2_C	brain:	n/a
5	chr7:137531612-137531662	SK-N-SH_RA	brain:	n/a
6	chr7:137531612-137531662	GM12892	blood:	n/a
7	chr7:137531612-137531662	NT2-D1	testis:	n/a
8	chr7:137531612-137531662	CMK	blood:	n/a
9	chr7:137531612-137531662	ovcar-3	ovarian:	n/a
10	chr7:137531612-137531662	AG09309	skin:	n/a
11	chr7:137531612-137531662	Hepatocyte	liver:	n/a
12	chr7:137531612-137531662	H1-hESC	embryonic stem cell:	embryo
13	chr7:137531612-137531662	SK-N-MC	brain:	n/a
14	chr7:137531612-137531662	HIPEpiC	eye:	n/a
15	chr7:137531612-137531662	NH-A	brain:	n/a
16	chr7:137531612-137531662	PANC-1	pancreas:	n/a
17	chr7:137531612-137531662	Hela-S3	cervix:	n/a
18	chr7:137531612-137531662	AG09319	gingival:	n/a
19	chr7:137531612-137531662	HCM	heart:	n/a
20	chr7:137531612-137531662	BJ	skin:	n/a
21	chr7:137531612-137531662	A549	lung:	n/a
22	chr7:137531612-137531662	HepG2	liver:	n/a
23	chr7:137531612-137531662	HEK293	kidney:	embryo
24	chr7:137531612-137531662	AG10803	skin:	n/a
25	chr7:137531612-137531662	SAEC	small airway:	n/a
26	chr7:137531612-137531662	HUVEC	blood vessel:	n/a
27	chr7:137531612-137531662	NHBE	bronchial:	n/a
28	chr7:137531612-137531662	HCT-116	colon:	n/a
29	chr7:137531612-137531662	HMEC	breast:	n/a
30	chr7:137531612-137531662	T-47D	breast:	n/a
31	chr7:137531612-137531662	HCPEpiC	choroid plexus:	n/a
32	chr7:137531612-137531662	Jurkat	blood:	n/a
33	chr7:137531612-137531662	RPTEC	kidney:	n/a
34	chr7:137531612-137531662	K562	blood:	n/a
35	chr7:137531612-137531662	ProgFib	skin:	n/a
36	chr7:137531612-137531662	HEEpiC	esophagus:	n/a
37	chr7:137531612-137531662	HCF	heart:	n/a
38	chr7:137531612-137531662	AoSMC	blood vessel:	n/a
39	chr7:137531612-137531662	NB4	blood:	n/a
40	chr7:137531612-137531662	Caco-2	colon:	n/a
41	chr7:137531612-137531662	AG04450	lung:	fetal
42	chr7:137531612-137531662	HRCEpiC	kidney:	n/a
43	chr7:137531612-137531662	HRE	kidney:	n/a
44	chr7:137531612-137531662	AG04449	skin:	fetal
45	chr7:137531612-137531662	LNCaP	prostate:	n/a
46	chr7:137531612-137531662	SKMC	muscle:	n/a
47	chr7:137531612-137531662	HL-60	blood:	n/a
48	chr7:137531612-137531662	MCF-7	breast:	n/a
49	chr7:137531612-137531662	PFSK-1	brain:	n/a
50	chr7:137531612-137531662	GM19239	blood:	n/a

No data

Variant related genes	Relation type
DGKI	TF binding region
DGKI	CpG island

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	chr7:137530800-137531800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
10	chr7:137530800-137532000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:137530800-137532400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr7:137530800-137532400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr7:137530800-137532400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:137530800-137532400	Active TSS	Brain Cingulate Gyrus	brain
15	chr7:137530800-137532600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr7:137530800-137532600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
17	chr7:137530800-137532600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr7:137530800-137532600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:137530800-137532600	Active TSS	Fetal Brain Female	brain
20	chr7:137530800-137532800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:137530800-137532800	Active TSS	Brain Angular Gyrus	brain
22	chr7:137531000-137531800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
23	chr7:137531000-137531800	Bivalent/Poised TSS	Esophagus	oesophagus
24	chr7:137531000-137531800	Active TSS	HSMMtube	muscle
25	chr7:137531000-137532000	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:137531000-137532000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
27	chr7:137531000-137532000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
28	chr7:137531000-137532000	Bivalent/Poised TSS	A549	lung
29	chr7:137531000-137532000	Bivalent Enhancer	HUVEC	blood vessel
30	chr7:137531000-137532000	Active TSS	NHLF	lung
31	chr7:137531000-137532200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr7:137531000-137532200	Bivalent Enhancer	Primary B cells from cord blood	blood
33	chr7:137531000-137532200	Active TSS	Aorta	Aorta
34	chr7:137531000-137532200	Active TSS	NHDF-Ad	bronchial
35	chr7:137531000-137532400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:137531000-137532400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
37	chr7:137531000-137532400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:137531000-137532400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
39	chr7:137531000-137532400	Flanking Active TSS	Right Ventricle	heart
40	chr7:137531000-137532400	Enhancers	Spleen	Spleen
41	chr7:137531000-137532600	Bivalent Enhancer	Placenta	Placenta
42	chr7:137531000-137532800	Enhancers	Liver	Liver
43	chr7:137531000-137532800	Active TSS	Brain Hippocampus Middle	brain
44	chr7:137531200-137531800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
45	chr7:137531200-137531800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:137531200-137531800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:137531200-137531800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr7:137531200-137531800	Active TSS	Muscle Satellite Cultured Cells	--
49	chr7:137531200-137531800	Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr7:137531200-137531800	Bivalent/Poised TSS	Adipose Nuclei	Adipose

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