Variant report

Variant	rs7613194
Chromosome Location	chr3:101395041-101395042
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	CTCF	chr3:101394931-101395529	GM12878	blood:	n/a	chr3:101395264-101395277 chr3:101395109-101395122 chr3:101395182-101395195
2	MAZ	chr3:101394320-101397368	IMR90	lung:	n/a	chr3:101395299-101395309 chr3:101395419-101395429
3	NFIC	chr3:101394853-101395546	ECC-1	luminal epithelium:	n/a	n/a
4	MYBL2	chr3:101394853-101395586	HepG2	liver:	n/a	n/a
5	POLR2A	chr3:101394826-101396333	GM12892	blood:	n/a	n/a
6	GABPA	chr3:101394655-101396441	HL-60	blood:	n/a	chr3:101394779-101394788
7	ELK1	chr3:101394901-101395474	Hela-S3	cervix:	n/a	n/a
8	MYC	chr3:101394619-101395452	MCF10A-Er-Src	breast:	n/a	chr3:101395299-101395309 chr3:101395419-101395429
9	TAF1	chr3:101395036-101396312	ECC-1	luminal epithelium:	n/a	n/a
10	MAX	chr3:101394794-101396529	HCT-116	colon:	n/a	chr3:101395299-101395309 chr3:101395419-101395429
11	NRF1	chr3:101394954-101395189	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr3:101394868-101395124	H1-hESC	embryonic stem cell:	n/a	n/a
13	MYC	chr3:101394984-101395485	HepG2	liver:	n/a	chr3:101395299-101395309 chr3:101395419-101395429
14	HEY1	chr3:101394817-101395156	K562	blood:	n/a	n/a
15	HMGN3	chr3:101394970-101396308	K562	blood:	n/a	n/a
16	ELF1	chr3:101394987-101395361	K562	blood:	n/a	chr3:101395199-101395211
17	HEY1	chr3:101394856-101395191	HepG2	liver:	n/a	n/a
18	RCOR1	chr3:101394578-101396475	Hela-S3	cervix:	n/a	n/a
19	BACH1	chr3:101394642-101395265	H1-hESC	embryonic stem cell:	n/a	n/a
20	RELA	chr3:101394930-101395474	GM19099	blood:	n/a	n/a
21	POLR2A	chr3:101394795-101395579	SK-N-MC	brain:	n/a	n/a
22	MXI1	chr3:101394775-101396418	GM12878	blood:	n/a	n/a
23	RUNX3	chr3:101394816-101395609	GM12878	blood:	n/a	n/a
24	POLR2A	chr3:101394890-101395617	HUVEC	blood vessel:	n/a	n/a
25	MAX	chr3:101394581-101395591	H1-hESC	embryonic stem cell:	n/a	chr3:101395299-101395309 chr3:101395419-101395429
26	EGR1	chr3:101394594-101395064	ECC-1	luminal epithelium:	n/a	chr3:101394780-101394793 chr3:101394780-101394790 chr3:101394779-101394793 chr3:101394781-101394791 chr3:101394775-101394797 chr3:101394780-101394793 chr3:101394781-101394791 chr3:101394777-101394791 chr3:101394779-101394794 chr3:101394781-101394792 chr3:101394781-101394790 chr3:101394780-101394793 chr3:101394780-101394793
27	POLR2A	chr3:101394759-101395524	GM12891	blood:	n/a	n/a
28	CTCF	chr3:101394836-101397094	A549	lung:	n/a	chr3:101395264-101395277 chr3:101395109-101395122 chr3:101395182-101395195
29	MAX	chr3:101394728-101396541	ECC-1	luminal epithelium:	n/a	chr3:101395299-101395309 chr3:101395419-101395429
30	POLR2A	chr3:101394887-101396171	GM10847	blood:	n/a	n/a
31	POLR2A	chr3:101394824-101396410	HCT-116	colon:	n/a	n/a
32	CTCF	chr3:101394980-101395130	HCPEpiC	choroid plexus:	n/a	chr3:101395109-101395122
33	MAX	chr3:101394653-101396438	H1-hESC	embryonic stem cell:	n/a	chr3:101395299-101395309 chr3:101395419-101395429
34	YY1	chr3:101394869-101396432	GM12878	blood:	n/a	chr3:101395418-101395432 chr3:101395192-101395206
35	MYC	chr3:101394947-101395323	K562	blood:	n/a	chr3:101395299-101395309
36	MYC	chr3:101394470-101396868	NB4	blood:	n/a	chr3:101395299-101395309 chr3:101395419-101395429
37	POU2F2	chr3:101394868-101395179	GM12891	blood:	n/a	n/a
38	POLR2A	chr3:101394831-101397438	K562	blood:	n/a	n/a
39	POLR2A	chr3:101394802-101397455	GM12891	blood:	n/a	n/a
40	MAX	chr3:101394571-101396361	K562	blood:	n/a	chr3:101395299-101395309 chr3:101395419-101395429
41	POLR2A	chr3:101394849-101395521	HUVEC	blood vessel:	n/a	n/a
42	EGR1	chr3:101395033-101395359	K562	blood:	n/a	chr3:101395199-101395209
43	GABPA	chr3:101395019-101396303	HL-60	blood:	n/a	n/a
44	JUN	chr3:101395034-101395060	H1-hESC	embryonic stem cell:	n/a	n/a
45	TAF1	chr3:101394897-101395438	K562	blood:	n/a	n/a
46	E2F4	chr3:101394706-101395391	MCF10A-Er-Src	breast:	n/a	chr3:101395243-101395252 chr3:101394779-101394788
47	POLR2A	chr3:101394796-101397422	K562	blood:	n/a	n/a
48	POLR2A	chr3:101394820-101397544	H1-hESC	embryonic stem cell:	n/a	n/a
49	CREB1	chr3:101394867-101396293	A549	lung:	n/a	n/a
50	CTCF	chr3:101395000-101395270	SAEC	small airway:	n/a	chr3:101395109-101395122 chr3:101395182-101395195

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:101395035-101395085	NHBE	bronchial:	n/a
2	chr3:101395035-101395085	Hela-S3	cervix:	n/a
3	chr3:101395035-101395085	HCPEpiC	choroid plexus:	n/a
4	chr3:101395035-101395085	IMR90	lung:	fetal
5	chr3:101395035-101395085	ECC-1	luminal epithelium:	n/a
6	chr3:101395035-101395085	PANC-1	pancreas:	n/a
7	chr3:101395035-101395085	LNCaP	prostate:	n/a
8	chr3:101395035-101395085	AG09309	skin:	n/a
9	chr3:101395035-101395085	NHDF-neo	bronchial:	n/a
10	chr3:101395035-101395085	HL-60	blood:	n/a
11	chr3:101395035-101395085	MCF10A-Er-Src	breast:	n/a
12	chr3:101395035-101395085	GM12892	blood:	n/a
13	chr3:101395035-101395085	HRCEpiC	kidney:	n/a
14	chr3:101395035-101395085	HAEpiC	amniotic membrane:	n/a
15	chr3:101395035-101395085	Jurkat	blood:	n/a
16	chr3:101395035-101395085	A549	lung:	n/a
17	chr3:101395035-101395085	ProgFib	skin:	n/a
18	chr3:101395035-101395085	K562	blood:	n/a
19	chr3:101395035-101395085	HCM	heart:	n/a
20	chr3:101395035-101395085	SAEC	small airway:	n/a
21	chr3:101395035-101395085	GM12878	blood:	n/a
22	chr3:101395035-101395085	AG04449	skin:	fetal
23	chr3:101395035-101395085	Caco-2	colon:	n/a
24	chr3:101395035-101395085	AG10803	skin:	n/a
25	chr3:101395035-101395085	SK-N-MC	brain:	n/a
26	chr3:101395035-101395085	PrEC	prostate:	n/a
27	chr3:101395035-101395085	BE2_C	brain:	n/a
28	chr3:101395035-101395085	U87	brain:	n/a
29	chr3:101395035-101395085	HRE	kidney:	n/a
30	chr3:101395035-101395085	CMK	blood:	n/a
31	chr3:101395035-101395085	SKMC	muscle:	n/a
32	chr3:101395035-101395085	NH-A	brain:	n/a
33	chr3:101395035-101395085	ovcar-3	ovarian:	n/a
34	chr3:101395035-101395085	NT2-D1	testis:	n/a
35	chr3:101395035-101395085	BJ	skin:	n/a
36	chr3:101395035-101395085	RPTEC	kidney:	n/a
37	chr3:101395035-101395085	AG09319	gingival:	n/a
38	chr3:101395035-101395085	HUVEC	blood vessel:	n/a
39	chr3:101395035-101395085	PFSK-1	brain:	n/a
40	chr3:101395035-101395085	HRPEpiC	eye:	n/a
41	chr3:101395035-101395085	T-47D	breast:	n/a
42	chr3:101395035-101395085	NB4	blood:	n/a
43	chr3:101395035-101395085	HNPCEpiC	eye:	n/a
44	chr3:101395035-101395085	HEK293	kidney:	embryo
45	chr3:101395035-101395085	AoSMC	blood vessel:	n/a
46	chr3:101395035-101395085	GM12891	blood:	n/a
47	chr3:101395035-101395085	MCF-7	breast:	n/a
48	chr3:101395035-101395085	H1-hESC	embryonic stem cell:	embryo
49	chr3:101395035-101395085	HMEC	breast:	n/a
50	chr3:101395035-101395085	GM19239	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:101306571..101308264-chr3:101393626..101395176,2	MCF-7	breast:
2	chr3:101394090..101397025-chr3:101443461..101445928,3	K562	blood:
3	chr3:101291780..101294720-chr3:101394004..101396565,4	K562	blood:
4	chr3:101289369..101294999-chr3:101391357..101396813,8	K562	blood:
5	chr3:101291104..101295547-chr3:101393750..101397705,12	MCF-7	breast:
6	chr3:101293308..101296113-chr3:101394030..101397396,3	MCF-7	breast:
7	chr3:101289588..101293101-chr3:101394155..101396875,5	MCF-7	breast:
8	chr3:100119980..100121652-chr3:101394464..101397120,2	K562	blood:

Variant related genes	Relation type
ZBTB11-AS1	TF binding region
ZBTB11-AS1	CpG island
ENSG00000242299	Chromatin interaction
ENSG00000206535	Chromatin interaction
ENSG00000154174	Chromatin interaction
ENSG00000182504	Chromatin interaction
ENSG00000081154	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1078153	0.87[EUR][1000 genomes]
rs11924203	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11929578	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12491044	0.86[EUR][1000 genomes]
rs12696325	0.87[EUR][1000 genomes]
rs1426386	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1569071	0.87[EUR][1000 genomes]
rs35279892	1.00[ASN][1000 genomes]
rs3846092	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs41273611	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4234491	0.87[EUR][1000 genomes]
rs4683853	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4683930	0.86[EUR][1000 genomes]
rs6763679	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6764700	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6768114	0.86[EUR][1000 genomes]
rs6768182	0.87[EUR][1000 genomes]
rs6774950	0.81[EUR][1000 genomes]
rs6779278	0.87[EUR][1000 genomes]
rs6779775	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6788864	0.87[EUR][1000 genomes]
rs6791803	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6794860	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6805496	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6806256	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72948053	0.86[EUR][1000 genomes]
rs7618600	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7621062	0.87[EUR][1000 genomes]
rs7644519	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7645698	1.00[AMR][1000 genomes];0.94[EUR][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	nsv497784	chr3:101315009-102092989	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv997407	chr3:101384031-101611391	Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv536675	chr3:101384031-101611391	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 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	chr3:101393200-101397600	Active TSS	K562	blood
2	chr3:101393600-101396800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:101393800-101396400	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr3:101393800-101396600	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr3:101393800-101396600	Active TSS	Right Ventricle	heart
6	chr3:101393800-101397000	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr3:101394000-101396200	Active TSS	NH-A	brain
8	chr3:101394000-101396400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:101394000-101396400	Active TSS	HMEC	breast
10	chr3:101394000-101396600	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr3:101394000-101396600	Active TSS	NHLF	lung
12	chr3:101394000-101396800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:101394000-101397200	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr3:101394000-101397400	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr3:101394200-101396200	Active TSS	HSMM	muscle
16	chr3:101394200-101396400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr3:101394200-101396400	Active TSS	Stomach Smooth Muscle	stomach
18	chr3:101394200-101396600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:101394200-101396600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:101394200-101396600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:101394200-101396600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:101394200-101396600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:101394200-101396600	Active TSS	Thymus	Thymus
24	chr3:101394200-101396600	Active TSS	A549	lung
25	chr3:101394200-101396600	Active TSS	GM12878-XiMat	blood
26	chr3:101394200-101396600	Active TSS	NHDF-Ad	bronchial
27	chr3:101394200-101396800	Active TSS	Fetal Kidney	kidney
28	chr3:101394400-101395200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:101394400-101395200	Active TSS	HepG2	liver
30	chr3:101394400-101395400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr3:101394400-101395800	Active TSS	Right Atrium	heart
32	chr3:101394400-101396000	Active TSS	Lung	lung
33	chr3:101394400-101396000	Active TSS	Ovary	ovary
34	chr3:101394400-101396200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr3:101394400-101396200	Active TSS	Fetal Thymus	thymus
36	chr3:101394400-101396400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr3:101394400-101396400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr3:101394400-101396400	Active TSS	H9 Cell Line	embryonic stem cell
39	chr3:101394400-101396400	Active TSS	Fetal Intestine Small	intestine
40	chr3:101394400-101396400	Active TSS	Fetal Muscle Leg	muscle
41	chr3:101394400-101396400	Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr3:101394400-101396600	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr3:101394400-101396600	Active TSS	H1 Cell Line	embryonic stem cell
44	chr3:101394400-101396600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr3:101394400-101396600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr3:101394400-101396600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr3:101394400-101396600	Active TSS	Colonic Mucosa	Colon
48	chr3:101394400-101396600	Active TSS	Fetal Muscle Trunk	muscle
49	chr3:101394400-101396600	Active TSS	Left Ventricle	heart
50	chr3:101394400-101396600	Active TSS	Psoas Muscle	Psoas

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