Variant report

Variant	rs1977744
Chromosome Location	chr6:131384717-131384718
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:237)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:237 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr6:131384181-131385001	HepG2	liver:	n/a	n/a
2	MAX	chr6:131383524-131385283	A549	lung:	n/a	chr6:131383712-131383721
3	ATF2	chr6:131384651-131385318	GM12878	blood:	n/a	n/a
4	RFX5	chr6:131384207-131384803	HepG2	liver:	n/a	n/a
5	MAFK	chr6:131384295-131384936	IMR90	lung:	n/a	chr6:131384718-131384729 chr6:131384717-131384733
6	RAD21	chr6:131384261-131384881	HepG2	liver:	n/a	n/a
7	EGR1	chr6:131384109-131385122	HCT-116	colon:	n/a	chr6:131384522-131384536 chr6:131384134-131384147 chr6:131384133-131384143
8	MAFK	chr6:131384674-131384952	HepG2	liver:	n/a	chr6:131384718-131384729 chr6:131384717-131384733
9	ELF1	chr6:131384132-131384742	GM12878	blood:	n/a	chr6:131384158-131384170
10	POLR2A	chr6:131384131-131385219	GM19193	blood:	n/a	n/a
11	POLR2A	chr6:131384110-131384869	HUVEC	blood vessel:	n/a	n/a
12	SP1	chr6:131384219-131384746	HepG2	liver:	n/a	chr6:131384587-131384598
13	SMC3	chr6:131384708-131385080	GM12878	blood:	n/a	n/a
14	GATA2	chr6:131384303-131385141	HUVEC	blood vessel:	n/a	n/a
15	FOSL2	chr6:131384143-131384751	HepG2	liver:	n/a	chr6:131384722-131384734
16	RUNX3	chr6:131384198-131385284	GM12878	blood:	n/a	n/a
17	RCOR1	chr6:131384179-131385092	HepG2	liver:	n/a	n/a
18	CTCF	chr6:131384700-131384850	AG04449	skin:	n/a	n/a
19	POLR2A	chr6:131384086-131384788	GM12892	blood:	n/a	n/a
20	NFIC	chr6:131384333-131385378	GM12878	blood:	n/a	n/a
21	POLR2A	chr6:131384058-131384768	HepG2	liver:	n/a	n/a
22	RCOR1	chr6:131383973-131384982	K562	blood:	n/a	n/a
23	MXI1	chr6:131384163-131385274	GM12878	blood:	n/a	n/a
24	SIN3AK20	chr6:131384159-131384825	HepG2	liver:	n/a	n/a
25	EBF1	chr6:131384414-131384727	GM12878	blood:	n/a	n/a
26	RELA	chr6:131384175-131385192	GM15510	blood:	n/a	chr6:131384898-131384907 chr6:131384898-131384907
27	MYC	chr6:131384566-131384756	H1-hESC	embryonic stem cell:	n/a	n/a
28	EGR1	chr6:131384336-131384774	H1-hESC	embryonic stem cell:	n/a	chr6:131384522-131384536
29	HEY1	chr6:131384166-131384752	HepG2	liver:	n/a	chr6:131384340-131384355
30	MAZ	chr6:131382443-131385497	IMR90	lung:	n/a	chr6:131383712-131383721
31	MAX	chr6:131384706-131385209	A549	lung:	n/a	n/a
32	TEAD4	chr6:131384096-131385080	HepG2	liver:	n/a	n/a
33	RELA	chr6:131384214-131385233	GM18951	blood:	n/a	chr6:131384898-131384907 chr6:131384898-131384907
34	FOS	chr6:131384456-131385092	HUVEC	blood vessel:	n/a	chr6:131384722-131384734
35	YY1	chr6:131384272-131384792	GM12892	blood:	n/a	chr6:131384345-131384359 chr6:131384572-131384583 chr6:131384339-131384353
36	CHD2	chr6:131384252-131384973	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAZ	chr6:131383386-131385101	HepG2	liver:	n/a	chr6:131383712-131383721
38	POLR2A	chr6:131384079-131384974	Gliobla	brain:	n/a	n/a
39	KAP1	chr6:131384490-131385299	U2OS	brain:	n/a	n/a
40	CREB1	chr6:131384003-131385315	HepG2	liver:	n/a	n/a
41	RCOR1	chr6:131384234-131385423	GM12878	blood:	n/a	n/a
42	FOXM1	chr6:131384674-131385357	GM12878	blood:	n/a	n/a
43	FOXP2	chr6:131384400-131384827	SK-N-MC	brain:	n/a	n/a
44	POLR2A	chr6:131384138-131385023	HCT-116	colon:	n/a	n/a
45	POLR2A	chr6:131384113-131384806	GM18526	blood:	n/a	n/a
46	MTA3	chr6:131384496-131385231	GM12878	blood:	n/a	n/a
47	POLR2A	chr6:131384135-131385235	HepG2	liver:	n/a	n/a
48	MYBL2	chr6:131384130-131385337	HepG2	liver:	n/a	n/a
49	POLR2A	chr6:131384147-131384871	U87	brain:	n/a	n/a
50	TCF12	chr6:131383992-131385032	A549	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:131384671-131384721	AG10803	skin:	n/a
2	chr6:131384671-131384721	HCPEpiC	choroid plexus:	n/a
3	chr6:131384671-131384721	SAEC	small airway:	n/a
4	chr6:131384671-131384721	HIPEpiC	eye:	n/a
5	chr6:131384671-131384721	AG04450	lung:	fetal
6	chr6:131384671-131384721	Jurkat	blood:	n/a
7	chr6:131384671-131384721	SK-N-SH	brain:	n/a
8	chr6:131384671-131384721	BE2_C	brain:	n/a
9	chr6:131384671-131384721	HCT-116	colon:	n/a
10	chr6:131384671-131384721	T-47D	breast:	n/a
11	chr6:131384671-131384721	NB4	blood:	n/a
12	chr6:131384671-131384721	SKMC	muscle:	n/a
13	chr6:131384671-131384721	AG04449	skin:	fetal
14	chr6:131384671-131384721	HPAEpiC	pulmonary alveolar:	n/a
15	chr6:131384671-131384721	HCM	heart:	n/a
16	chr6:131384671-131384721	HEEpiC	esophagus:	n/a
17	chr6:131384671-131384721	Hepatocyte	liver:	n/a
18	chr6:131384671-131384721	SK-N-SH_RA	brain:	n/a
19	chr6:131384671-131384721	U87	brain:	n/a
20	chr6:131384671-131384721	HUVEC	blood vessel:	n/a
21	chr6:131384671-131384721	PFSK-1	brain:	n/a
22	chr6:131384671-131384721	GM12892	blood:	n/a
23	chr6:131384671-131384721	ECC-1	luminal epithelium:	n/a
24	chr6:131384671-131384721	LNCaP	prostate:	n/a
25	chr6:131384671-131384721	GM12878	blood:	n/a
26	chr6:131384671-131384721	SK-N-MC	brain:	n/a
27	chr6:131384671-131384721	HRE	kidney:	n/a
28	chr6:131384671-131384721	AoSMC	blood vessel:	n/a
29	chr6:131384671-131384721	MCF10A-Er-Src	breast:	n/a
30	chr6:131384671-131384721	RPTEC	kidney:	n/a
31	chr6:131384671-131384721	BJ	skin:	n/a
32	chr6:131384671-131384721	IMR90	lung:	fetal
33	chr6:131384671-131384721	HNPCEpiC	eye:	n/a
34	chr6:131384671-131384721	HepG2	liver:	n/a
35	chr6:131384671-131384721	ProgFib	skin:	n/a
36	chr6:131384671-131384721	PrEC	prostate:	n/a
37	chr6:131384671-131384721	AG09319	gingival:	n/a
38	chr6:131384671-131384721	K562	blood:	n/a
39	chr6:131384671-131384721	GM12891	blood:	n/a
40	chr6:131384671-131384721	HL-60	blood:	n/a
41	chr6:131384671-131384721	ovcar-3	ovarian:	n/a
42	chr6:131384671-131384721	NH-A	brain:	n/a
43	chr6:131384671-131384721	NHBE	bronchial:	n/a
44	chr6:131384671-131384721	MCF-7	breast:	n/a
45	chr6:131384671-131384721	GM19239	blood:	n/a
46	chr6:131384671-131384721	Caco-2	colon:	n/a
47	chr6:131384671-131384721	HMEC	breast:	n/a
48	chr6:131384671-131384721	HAEpiC	amniotic membrane:	n/a
49	chr6:131384671-131384721	Hela-S3	cervix:	n/a
50	chr6:131384671-131384721	CMK	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131380112..131382721-chr6:131384592..131387517,3	K562	blood:
2	chr6:131383272..131386235-chr6:131948272..131950497,3	MCF-7	breast:

No data

Variant related genes	Relation type
EPB41L2	TF binding region
EPB41L2	CpG island
ENSG00000112282	Chromatin interaction
ENSG00000154269	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11154614	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11154619	0.85[ASN][1000 genomes]
rs11961521	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11969461	0.92[ASN][1000 genomes]
rs12198265	0.85[ASN][1000 genomes]
rs12527232	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12665101	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12665208	0.86[ASN][1000 genomes]
rs13192526	0.86[ASN][1000 genomes]
rs13207929	0.94[ASN][1000 genomes]
rs13208091	0.94[ASN][1000 genomes]
rs13209830	0.94[ASN][1000 genomes]
rs1332492	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1338906	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17180547	0.92[ASN][1000 genomes]
rs1855078	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs34445705	0.94[ASN][1000 genomes]
rs34863373	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs35273150	0.94[ASN][1000 genomes]
rs66491359	0.81[ASN][1000 genomes]
rs6908768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6923182	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72987859	0.94[ASN][1000 genomes]
rs72987891	0.94[ASN][1000 genomes]
rs72989827	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72989829	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7740558	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7743764	0.94[ASN][1000 genomes]
rs7745206	0.85[AFR][1000 genomes]
rs9483209	0.94[AFR][1000 genomes]
rs9492784	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9492785	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9492799	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv3370421	chr6:131383359-131385457	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131381600-131384800	Active TSS	Rectal Smooth Muscle	rectum
2	chr6:131381600-131385000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:131381800-131384800	Active TSS	Brain Angular Gyrus	brain
4	chr6:131381800-131385000	Active TSS	Ovary	ovary
5	chr6:131381800-131385200	Active TSS	Brain Anterior Caudate	brain
6	chr6:131382000-131384800	Active TSS	A549	lung
7	chr6:131382000-131385000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:131382000-131385000	Active TSS	Brain Substantia Nigra	brain
9	chr6:131382200-131384800	Active TSS	Brain Cingulate Gyrus	brain
10	chr6:131382200-131384800	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr6:131382200-131384800	Active TSS	Fetal Muscle Trunk	muscle
12	chr6:131382200-131385000	Active TSS	Right Atrium	heart
13	chr6:131382200-131385200	Active TSS	Stomach Smooth Muscle	stomach
14	chr6:131382400-131384800	Active TSS	Colon Smooth Muscle	Colon
15	chr6:131382600-131384800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:131382600-131384800	Active TSS	Fetal Intestine Small	intestine
17	chr6:131382600-131384800	Active TSS	Left Ventricle	heart
18	chr6:131382600-131385000	Active TSS	Fetal Kidney	kidney
19	chr6:131382600-131385200	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr6:131382600-131385200	Active TSS	Right Ventricle	heart
21	chr6:131382800-131384800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:131382800-131385000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:131382800-131385200	Active TSS	Aorta	Aorta
24	chr6:131383000-131384800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:131383000-131384800	Active TSS	Brain Hippocampus Middle	brain
26	chr6:131383000-131384800	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr6:131383000-131384800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr6:131383000-131384800	Active TSS	Fetal Intestine Large	intestine
29	chr6:131383000-131384800	Active TSS	Fetal Lung	lung
30	chr6:131383000-131384800	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr6:131383000-131384800	Active TSS	HSMM	muscle
32	chr6:131383000-131384800	Active TSS	NHDF-Ad	bronchial
33	chr6:131383000-131384800	Active TSS	Osteobl	bone
34	chr6:131383000-131385000	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr6:131383000-131385000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr6:131383000-131385000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr6:131383000-131385000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:131383000-131385000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr6:131383000-131385000	Active TSS	Lung	lung
40	chr6:131383000-131385200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:131383000-131385200	Active TSS	Psoas Muscle	Psoas
42	chr6:131383000-131385200	Active TSS	Thymus	Thymus
43	chr6:131383000-131385400	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr6:131383200-131384800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:131383200-131384800	Active TSS	H9 Cell Line	embryonic stem cell
46	chr6:131383200-131384800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:131383200-131384800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr6:131383200-131384800	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr6:131383200-131384800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:131383200-131384800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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