Variant report

Variant	rs7793074
Chromosome Location	chr7:40174673-40174674
allele	A/C
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	TEAD4	chr7:40174000-40174694	ECC-1	luminal epithelium:	n/a	n/a
2	GABPA	chr7:40173916-40174692	Hela-S3	cervix:	n/a	n/a
3	BCL3	chr7:40173988-40174683	A549	lung:	n/a	chr7:40174553-40174566 chr7:40174323-40174332
4	REST	chr7:40173491-40174794	H1-neurons	neurons:	n/a	n/a
5	BRCA1	chr7:40174122-40174683	Hela-S3	cervix:	n/a	n/a
6	MYC	chr7:40174524-40174673	MCF-7	breast:	n/a	chr7:40174551-40174561
7	CEBPB	chr7:40174022-40174698	GM12878	blood:	n/a	n/a
8	RFX5	chr7:40174099-40175053	HepG2	liver:	n/a	chr7:40174421-40174430
9	RAD21	chr7:40174024-40174728	IMR90	lung:	n/a	chr7:40174541-40174555 chr7:40174537-40174556
10	POLR2A	chr7:40168616-40174782	MCF10A-Er-Src	breast:	n/a	n/a
11	E2F6	chr7:40173866-40175331	H1-hESC	embryonic stem cell:	n/a	chr7:40174561-40174576
12	POLR2A	chr7:40173837-40174886	U87	brain:	n/a	n/a
13	HDAC2	chr7:40173933-40174812	MCF-7	breast:	n/a	chr7:40174380-40174394
14	POLR2A	chr7:40173660-40174780	GM19099	blood:	n/a	n/a
15	POLR2A	chr7:40173829-40174690	HUVEC	blood vessel:	n/a	n/a
16	E2F6	chr7:40174428-40174760	K562	blood:	n/a	chr7:40174561-40174576
17	POLR2A	chr7:40173868-40174712	H1-hESC	embryonic stem cell:	n/a	n/a
18	CREB1	chr7:40173898-40174810	H1-hESC	embryonic stem cell:	n/a	n/a
19	MYBL2	chr7:40173937-40174751	HepG2	liver:	n/a	n/a
20	FOXA1	chr7:40173984-40174818	HepG2	liver:	n/a	n/a
21	CTCF	chr7:40174540-40174690	HRE	kidney:	n/a	chr7:40174554-40174567 chr7:40174541-40174554 chr7:40174540-40174556 chr7:40174541-40174554
22	CTCF	chr7:40174404-40174714	ECC-1	luminal epithelium:	n/a	chr7:40174554-40174567 chr7:40174541-40174554 chr7:40174539-40174557 chr7:40174540-40174556 chr7:40174534-40174555 chr7:40174541-40174554
23	SIN3AK20	chr7:40174002-40174709	H1-hESC	embryonic stem cell:	n/a	n/a
24	E2F6	chr7:40173915-40175010	A549	lung:	n/a	chr7:40174561-40174576
25	CTCF	chr7:40174100-40174762	GM12878	blood:	n/a	chr7:40174554-40174567 chr7:40174541-40174554 chr7:40174539-40174557 chr7:40174317-40174326 chr7:40174540-40174556 chr7:40174534-40174555 chr7:40174541-40174554
26	NFIC	chr7:40174084-40174836	ECC-1	luminal epithelium:	n/a	n/a
27	RAD21	chr7:40173827-40175058	H1-hESC	embryonic stem cell:	n/a	chr7:40174541-40174555 chr7:40174537-40174556
28	E2F6	chr7:40173858-40175106	K562	blood:	n/a	chr7:40174561-40174576
29	POLR2A	chr7:40173710-40175021	HepG2	liver:	n/a	n/a
30	FOXA2	chr7:40174054-40174812	A549	lung:	n/a	n/a
31	POLR2A	chr7:40174538-40174708	A549	lung:	n/a	n/a
32	CTCF	chr7:40174165-40174750	GM19238	blood:	n/a	chr7:40174554-40174567 chr7:40174541-40174554 chr7:40174539-40174557 chr7:40174317-40174326 chr7:40174540-40174556 chr7:40174534-40174555 chr7:40174541-40174554
33	EP300	chr7:40174047-40174722	H1-hESC	embryonic stem cell:	n/a	chr7:40174381-40174395 chr7:40174542-40174558
34	POLR2A	chr7:40173307-40174802	NB4	blood:	n/a	n/a
35	POLR2A	chr7:40174374-40174724	A549	lung:	n/a	n/a
36	ZNF143	chr7:40173675-40174728	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr7:40174362-40174688	K562	blood:	n/a	chr7:40174554-40174567 chr7:40174541-40174554 chr7:40174539-40174557 chr7:40174540-40174556 chr7:40174534-40174555 chr7:40174541-40174554
38	FOXM1	chr7:40173989-40174680	GM12878	blood:	n/a	n/a
39	USF2	chr7:40174010-40174732	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr7:40173496-40174703	GM12892	blood:	n/a	n/a
41	ELF1	chr7:40173831-40174723	K562	blood:	n/a	chr7:40174548-40174560 chr7:40174380-40174391 chr7:40174090-40174103
42	MYC	chr7:40173457-40174742	MCF10A-Er-Src	breast:	n/a	chr7:40174551-40174561
43	CTCF	chr7:40174436-40174681	GM13976	blood:	n/a	chr7:40174554-40174567 chr7:40174541-40174554 chr7:40174539-40174557 chr7:40174540-40174556 chr7:40174534-40174555 chr7:40174541-40174554
44	EP300	chr7:40174046-40174891	K562	blood:	n/a	chr7:40174381-40174395 chr7:40174542-40174558
45	HEY1	chr7:40173604-40174834	HepG2	liver:	n/a	chr7:40174543-40174558
46	TAF1	chr7:40173853-40174707	H1-neurons	neurons:	n/a	n/a
47	EGR1	chr7:40173864-40174707	H1-hESC	embryonic stem cell:	n/a	n/a
48	YY1	chr7:40173846-40174722	GM12878	blood:	n/a	n/a
49	CTCF	chr7:40174380-40174714	NHEK	skin:	n/a	chr7:40174554-40174567 chr7:40174541-40174554 chr7:40174539-40174557 chr7:40174540-40174556 chr7:40174534-40174555 chr7:40174541-40174554
50	CREB1	chr7:40173943-40174862	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:40174653-40174703	CMK	blood:	n/a
2	chr7:40174653-40174703	GM12892	blood:	n/a
3	chr7:40174653-40174703	GM12878	blood:	n/a
4	chr7:40174653-40174703	LNCaP	prostate:	n/a
5	chr7:40174653-40174703	HAEpiC	amniotic membrane:	n/a
6	chr7:40174653-40174703	HEK293	kidney:	embryo
7	chr7:40174653-40174703	IMR90	lung:	fetal
8	chr7:40174653-40174703	Hela-S3	cervix:	n/a
9	chr7:40174653-40174703	AG04450	lung:	fetal
10	chr7:40174653-40174703	AG04449	skin:	fetal
11	chr7:40174653-40174703	HCPEpiC	choroid plexus:	n/a
12	chr7:40174653-40174703	H1-hESC	embryonic stem cell:	embryo
13	chr7:40174653-40174703	AG10803	skin:	n/a
14	chr7:40174653-40174703	HCT-116	colon:	n/a
15	chr7:40174653-40174703	PrEC	prostate:	n/a
16	chr7:40174653-40174703	SK-N-SH_RA	brain:	n/a
17	chr7:40174653-40174703	HCF	heart:	n/a
18	chr7:40174653-40174703	AoSMC	blood vessel:	n/a
19	chr7:40174653-40174703	SK-N-SH	brain:	n/a
20	chr7:40174653-40174703	GM19239	blood:	n/a
21	chr7:40174653-40174703	ProgFib	skin:	n/a
22	chr7:40174653-40174703	HUVEC	blood vessel:	n/a
23	chr7:40174653-40174703	NH-A	brain:	n/a
24	chr7:40174653-40174703	HepG2	liver:	n/a
25	chr7:40174653-40174703	HIPEpiC	eye:	n/a
26	chr7:40174653-40174703	SK-N-MC	brain:	n/a
27	chr7:40174653-40174703	A549	lung:	n/a
28	chr7:40174653-40174703	HMEC	breast:	n/a
29	chr7:40174653-40174703	AG09309	skin:	n/a
30	chr7:40174653-40174703	HCM	heart:	n/a
31	chr7:40174653-40174703	HRE	kidney:	n/a
32	chr7:40174653-40174703	PANC-1	pancreas:	n/a
33	chr7:40174653-40174703	GM12891	blood:	n/a
34	chr7:40174653-40174703	K562	blood:	n/a
35	chr7:40174653-40174703	HNPCEpiC	eye:	n/a
36	chr7:40174653-40174703	Caco-2	colon:	n/a
37	chr7:40174653-40174703	Jurkat	blood:	n/a
38	chr7:40174653-40174703	BJ	skin:	n/a
39	chr7:40174653-40174703	T-47D	breast:	n/a
40	chr7:40174653-40174703	HPAEpiC	pulmonary alveolar:	n/a
41	chr7:40174653-40174703	SAEC	small airway:	n/a
42	chr7:40174653-40174703	PFSK-1	brain:	n/a
43	chr7:40174653-40174703	ovcar-3	ovarian:	n/a
44	chr7:40174653-40174703	MCF-7	breast:	n/a
45	chr7:40174653-40174703	U87	brain:	n/a
46	chr7:40174653-40174703	NB4	blood:	n/a
47	chr7:40174653-40174703	HL-60	blood:	n/a
48	chr7:40174653-40174703	HRPEpiC	eye:	n/a
49	chr7:40174653-40174703	ECC-1	luminal epithelium:	n/a
50	chr7:40174653-40174703	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:39987485..39989678-chr7:40173138..40176244,4	K562	blood:
2	chr7:40167264..40171884-chr7:40172209..40175327,5	K562	blood:
3	chr7:40167562..40171134-chr7:40171634..40175290,4	MCF-7	breast:
4	chr5:72111975..72112885-chr7:40174048..40174680,2	Hela-S3	cervix:
5	chr7:39987721..39990242-chr7:40174056..40176267,2	MCF-7	breast:
6	chr7:39985235..39991458-chr7:40172332..40176244,8	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C7orf10-3	chr7:40174482-40174719	NONHSAT120247

Variant related genes	Relation type
MPLKIP	TF binding region
MPLKIP	CpG island
ENSG00000083312	Chromatin interaction
ENSG00000065883	Chromatin interaction
ENSG00000199273	Chromatin interaction
ENSG00000259826	Chromatin interaction
ENSG00000249085	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10452813	0.82[AFR][1000 genomes]
rs2056774	0.87[AFR][1000 genomes]
rs57515201	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58952289	1.00[AMR][1000 genomes]
rs61119917	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61347989	0.84[AFR][1000 genomes]
rs6952198	0.87[AFR][1000 genomes]
rs7790068	0.84[AFR][1000 genomes]
rs7790445	0.82[AFR][1000 genomes]
rs7797349	0.84[AFR][1000 genomes]
rs7801937	0.93[AFR][1000 genomes]
rs7807200	0.87[AFR][1000 genomes]
rs9690073	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9692066	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756801	chr7:40060180-40269583	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2759525	chr7:40060180-40269583	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv887979	chr7:40067021-40193535	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv887980	chr7:40067021-40203356	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv887981	chr7:40075461-40203356	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv971193	chr7:40075881-40197955	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	esv34547	chr7:40077032-40230965	Strong transcription Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv824080	chr7:40077089-40198644	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv464437	chr7:40094641-40197168	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv606709	chr7:40094641-40197168	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv1032278	chr7:40097371-40396300	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv887982	chr7:40098787-40193535	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
13	nsv1024735	chr7:40149227-40203356	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr7:40172000-40175000	Active TSS	K562	blood
2	chr7:40172200-40175200	Active TSS	HMEC	breast
3	chr7:40172400-40174800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr7:40172400-40175000	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr7:40172400-40175200	Active TSS	HSMMtube	muscle
6	chr7:40172600-40174800	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr7:40172600-40174800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:40172600-40175200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:40172600-40175200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:40172600-40175200	Active TSS	Aorta	Aorta
11	chr7:40172600-40175200	Active TSS	Right Atrium	heart
12	chr7:40172600-40175400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:40172600-40175400	Active TSS	Fetal Intestine Large	intestine
14	chr7:40172800-40174800	Active TSS	H1 Cell Line	embryonic stem cell
15	chr7:40172800-40174800	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr7:40172800-40175000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:40172800-40175000	Active TSS	NH-A	brain
18	chr7:40172800-40175200	Active TSS	Ovary	ovary
19	chr7:40172800-40175200	Active TSS	Psoas Muscle	Psoas
20	chr7:40172800-40175200	Active TSS	Right Ventricle	heart
21	chr7:40172800-40175400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:40172800-40175400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:40172800-40175400	Active TSS	HSMM	muscle
24	chr7:40172800-40175600	Active TSS	Fetal Kidney	kidney
25	chr7:40173000-40174800	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr7:40173000-40174800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:40173000-40174800	Active TSS	Fetal Muscle Leg	muscle
28	chr7:40173000-40174800	Active TSS	GM12878-XiMat	blood
29	chr7:40173000-40175000	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr7:40173000-40175000	Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr7:40173000-40175000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:40173000-40175000	Active TSS	Fetal Intestine Small	intestine
33	chr7:40173000-40175200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:40173000-40175200	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr7:40173000-40175200	Active TSS	Colonic Mucosa	Colon
36	chr7:40173000-40175200	Active TSS	NHDF-Ad	bronchial
37	chr7:40173000-40175200	Active TSS	NHEK	skin
38	chr7:40173000-40175400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:40173000-40175400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:40173000-40175400	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr7:40173000-40175400	Active TSS	Muscle Satellite Cultured Cells	--
42	chr7:40173000-40175600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:40173200-40174800	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr7:40173200-40174800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr7:40173200-40174800	Active TSS	Fetal Muscle Trunk	muscle
46	chr7:40173200-40174800	Active TSS	Gastric	stomach
47	chr7:40173200-40174800	Active TSS	Lung	lung
48	chr7:40173200-40174800	Active TSS	Pancreas	Pancrea
49	chr7:40173200-40175000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr7:40173200-40175000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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