Variant report

Variant	rs34309725
Chromosome Location	chr7:137531952-137531953
allele	C/T
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	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	POLR2A	chr7:137531916-137532758	GM12891	blood:	n/a	n/a
8	POLR2A	chr7:137531239-137532224	A549	lung:	n/a	n/a
9	RAD21	chr7:137531627-137532420	H1-hESC	embryonic stem cell:	n/a	chr7:137532042-137532056 chr7:137532333-137532343 chr7:137532008-137532027
10	POLR2A	chr7:137531711-137532801	GM12878	blood:	n/a	n/a
11	FOSL2	chr7:137530926-137532719	HepG2	liver:	n/a	n/a
12	POLR2A	chr7:137530825-137532531	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr7:137531806-137532007	HepG2	liver:	n/a	n/a
14	MBD4	chr7:137531641-137532114	HepG2	liver:	n/a	n/a
15	CTCF	chr7:137531940-137532090	BJ	skin:	n/a	n/a
16	CTCF	chr7:137531920-137532070	AG04449	skin:	n/a	n/a
17	POLR2A	chr7:137531524-137533533	U87	brain:	n/a	n/a
18	POLR2A	chr7:137531548-137532466	GM12878	blood:	n/a	n/a
19	POLR2A	chr7:137531657-137532789	GM12891	blood:	n/a	n/a
20	CTBP2	chr7:137531074-137532426	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr7:137530510-137532617	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr7:137531676-137533830	GM12878	blood:	n/a	n/a
23	POLR2A	chr7:137531665-137532475	HepG2	liver:	n/a	n/a
24	MAZ	chr7:137529826-137532738	IMR90	lung:	n/a	chr7:137532088-137532098 chr7:137531929-137531939
25	BHLHE40	chr7:137531829-137531960	GM12878	blood:	n/a	chr7:137531943-137531959
26	POLR2A	chr7:137531666-137532393	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	SIN3AK20	chr7:137531561-137532381	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr7:137531592-137532125	IMR90	lung:	n/a	n/a
31	POLR2A	chr7:137531696-137532082	HepG2	liver:	n/a	n/a
32	POLR2A	chr7:137531159-137532487	GM18951	blood:	n/a	n/a
33	CTCF	chr7:137531940-137532090	HCPEpiC	choroid plexus:	n/a	n/a
34	POLR2A	chr7:137531866-137532012	ProgFib	skin:	n/a	n/a
35	REST	chr7:137531502-137531970	H1-neurons	neurons:	n/a	n/a
36	POLR2A	chr7:137531724-137532181	A549	lung:	n/a	n/a
37	POLR2A	chr7:137531715-137532764	GM12891	blood:	n/a	n/a
38	RCOR1	chr7:137530572-137532473	IMR90	lung:	n/a	n/a
39	POLR2A	chr7:137531524-137533562	U87	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:137531952-137532002	PrEC	prostate:	n/a
2	chr7:137531952-137532002	GM19239	blood:	n/a
3	chr7:137531952-137532002	HMEC	breast:	n/a
4	chr7:137531952-137532002	HRCEpiC	kidney:	n/a
5	chr7:137531952-137532002	SK-N-SH	brain:	n/a
6	chr7:137531952-137532002	GM06990	blood:	n/a
7	chr7:137531952-137532002	HEEpiC	esophagus:	n/a
8	chr7:137531952-137532002	SK-N-SH_RA	brain:	n/a
9	chr7:137531952-137532002	PANC-1	pancreas:	n/a
10	chr7:137531952-137532002	HIPEpiC	eye:	n/a
11	chr7:137531952-137532002	HUVEC	blood vessel:	n/a
12	chr7:137531952-137532002	LNCaP	prostate:	n/a
13	chr7:137531952-137532002	AG10803	skin:	n/a
14	chr7:137531952-137532002	Jurkat	blood:	n/a
15	chr7:137531952-137532002	HPAEpiC	pulmonary alveolar:	n/a
16	chr7:137531952-137532002	HCPEpiC	choroid plexus:	n/a
17	chr7:137531952-137532002	PFSK-1	brain:	n/a
18	chr7:137531952-137532002	HEK293	kidney:	embryo
19	chr7:137531952-137532002	HepG2	liver:	n/a
20	chr7:137531952-137532002	U87	brain:	n/a
21	chr7:137531952-137532002	NT2-D1	testis:	n/a
22	chr7:137531952-137532002	SK-N-MC	brain:	n/a
23	chr7:137531952-137532002	NB4	blood:	n/a
24	chr7:137531952-137532002	Hepatocyte	liver:	n/a
25	chr7:137531952-137532002	HCF	heart:	n/a
26	chr7:137531952-137532002	T-47D	breast:	n/a
27	chr7:137531952-137532002	HAEpiC	amniotic membrane:	n/a
28	chr7:137531952-137532002	MCF-7	breast:	n/a
29	chr7:137531952-137532002	AG09319	gingival:	n/a
30	chr7:137531952-137532002	HNPCEpiC	eye:	n/a
31	chr7:137531952-137532002	GM12878	blood:	n/a
32	chr7:137531952-137532002	IMR90	lung:	fetal
33	chr7:137531952-137532002	SAEC	small airway:	n/a
34	chr7:137531952-137532002	Caco-2	colon:	n/a
35	chr7:137531952-137532002	H1-hESC	embryonic stem cell:	embryo
36	chr7:137531952-137532002	HL-60	blood:	n/a
37	chr7:137531952-137532002	BE2_C	brain:	n/a
38	chr7:137531952-137532002	ProgFib	skin:	n/a
39	chr7:137531952-137532002	HCM	heart:	n/a
40	chr7:137531952-137532002	AG04450	lung:	fetal
41	chr7:137531952-137532002	AG04449	skin:	fetal
42	chr7:137531952-137532002	HCT-116	colon:	n/a
43	chr7:137531952-137532002	GM12891	blood:	n/a
44	chr7:137531952-137532002	MCF10A-Er-Src	breast:	n/a
45	chr7:137531952-137532002	CMK	blood:	n/a
46	chr7:137531952-137532002	Hela-S3	cervix:	n/a
47	chr7:137531952-137532002	AoSMC	blood vessel:	n/a
48	chr7:137531952-137532002	BJ	skin:	n/a
49	chr7:137531952-137532002	HRE	kidney:	n/a
50	chr7:137531952-137532002	HRPEpiC	eye:	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
DGKI	CpG island

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10230788	0.86[EUR][1000 genomes]
rs10256707	0.83[EUR][1000 genomes]
rs10257218	0.85[EUR][1000 genomes]
rs10260637	0.92[EUR][1000 genomes]
rs1109272	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1871213	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28408194	0.80[EUR][1000 genomes]
rs28634434	0.83[EUR][1000 genomes]
rs3823554	0.83[EUR][1000 genomes]
rs6974718	0.92[EUR][1000 genomes]
rs6978230	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7796821	0.83[EUR][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	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:111 , 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	chr7:137530800-137532000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:137530800-137532400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr7:137530800-137532400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr7:137530800-137532400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:137530800-137532400	Active TSS	Brain Cingulate Gyrus	brain
11	chr7:137530800-137532600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr7:137530800-137532600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
13	chr7:137530800-137532600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr7:137530800-137532600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:137530800-137532600	Active TSS	Fetal Brain Female	brain
16	chr7:137530800-137532800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:137530800-137532800	Active TSS	Brain Angular Gyrus	brain
18	chr7:137531000-137532000	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr7:137531000-137532000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
20	chr7:137531000-137532000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
21	chr7:137531000-137532000	Bivalent/Poised TSS	A549	lung
22	chr7:137531000-137532000	Bivalent Enhancer	HUVEC	blood vessel
23	chr7:137531000-137532000	Active TSS	NHLF	lung
24	chr7:137531000-137532200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr7:137531000-137532200	Bivalent Enhancer	Primary B cells from cord blood	blood
26	chr7:137531000-137532200	Active TSS	Aorta	Aorta
27	chr7:137531000-137532200	Active TSS	NHDF-Ad	bronchial
28	chr7:137531000-137532400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:137531000-137532400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
30	chr7:137531000-137532400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:137531000-137532400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
32	chr7:137531000-137532400	Flanking Active TSS	Right Ventricle	heart
33	chr7:137531000-137532400	Enhancers	Spleen	Spleen
34	chr7:137531000-137532600	Bivalent Enhancer	Placenta	Placenta
35	chr7:137531000-137532800	Enhancers	Liver	Liver
36	chr7:137531000-137532800	Active TSS	Brain Hippocampus Middle	brain
37	chr7:137531200-137532000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:137531200-137532000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
39	chr7:137531200-137532000	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
40	chr7:137531200-137532000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr7:137531200-137532000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
42	chr7:137531200-137532000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:137531200-137532000	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr7:137531200-137532000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
45	chr7:137531200-137532000	Bivalent/Poised TSS	HepG2	liver
46	chr7:137531200-137532000	Active TSS	Osteobl	bone
47	chr7:137531200-137532200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr7:137531200-137532200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:137531200-137532200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:137531200-137532200	Active TSS	Brain Substantia Nigra	brain

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