Variant report

Variant	rs59735023
Chromosome Location	chr7:100423078-100423079
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	MAX	chr7:100422794-100425971	K562	blood:	n/a	chr7:100424953-100424963 chr7:100424987-100424997
2	MAX	chr7:100422691-100425951	MCF-7	breast:	n/a	chr7:100424953-100424963 chr7:100424987-100424997
3	POLR2A	chr7:100422569-100423539	HUVEC	blood vessel:	n/a	n/a
4	TCF7L2	chr7:100422927-100423680	PANC-1	pancreas:	n/a	chr7:100423585-100423594 chr7:100423124-100423138 chr7:100423583-100423597 chr7:100423586-100423596
5	RAD21	chr7:100422224-100424797	SK-N-SH	brain:	n/a	chr7:100423965-100423978
6	CBX3	chr7:100422966-100423555	K562	blood:	n/a	n/a
7	MYC	chr7:100423022-100423641	MCF10A-Er-Src	breast:	n/a	n/a
8	JUN	chr7:100422826-100426015	K562	blood:	n/a	n/a
9	MXI1	chr7:100422162-100426238	IMR90	lung:	n/a	n/a
10	MYC	chr7:100422900-100423186	MCF-7	breast:	n/a	n/a
11	ZNF263	chr7:100423045-100423245	HEK293-T-REx	kidney:	n/a	n/a
12	MAX	chr7:100422960-100423703	K562	blood:	n/a	n/a
13	POLR2A	chr7:100422756-100423181	HepG2	liver:	n/a	n/a
14	STAT3	chr7:100422877-100423117	MCF10A-Er-Src	breast:	n/a	chr7:100422962-100422973
15	CTCF	chr7:100422524-100425952	SK-N-SH	brain:	n/a	chr7:100425569-100425590 chr7:100424947-100424956 chr7:100424800-100424813 chr7:100425592-100425613 chr7:100425599-100425612 chr7:100425602-100425610 chr7:100424039-100424052 chr7:100425597-100425615
16	HDAC2	chr7:100423015-100423516	K562	blood:	n/a	n/a
17	MYC	chr7:100423078-100423891	K562	blood:	n/a	n/a
18	POLR2A	chr7:100423011-100423149	ProgFib	skin:	n/a	n/a
19	MXI1	chr7:100422958-100423325	HepG2	liver:	n/a	n/a
20	POLR2A	chr7:100422982-100423989	PANC-1	pancreas:	n/a	n/a
21	SIN3AK20	chr7:100422926-100423270	SK-N-SH	brain:	n/a	n/a
22	HDAC2	chr7:100423016-100423262	K562	blood:	n/a	n/a
23	SIN3AK20	chr7:100422942-100423319	PFSK-1	brain:	n/a	n/a
24	TCF7L2	chr7:100422958-100423245	MCF-7	breast:	n/a	chr7:100423124-100423138
25	POLR2A	chr7:100422785-100423294	K562	blood:	n/a	n/a
26	NR2F2	chr7:100422581-100423366	MCF-7	breast:	n/a	n/a
27	POLR2A	chr7:100422761-100423246	MCF-7	breast:	n/a	n/a
28	SIN3AK20	chr7:100422540-100423928	MCF-7	breast:	n/a	n/a
29	MXI1	chr7:100422978-100423588	K562	blood:	n/a	n/a
30	SIN3A	chr7:100422950-100423325	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr7:100422235-100427552	HUVEC	blood vessel:	n/a	n/a
32	MAX	chr7:100423017-100423253	K562	blood:	n/a	n/a
33	SIN3AK20	chr7:100422470-100426001	MCF-7	breast:	n/a	n/a
34	POLR2A	chr7:100422976-100423164	MCF-7	breast:	n/a	n/a
35	SIN3AK20	chr7:100422962-100424121	K562	blood:	n/a	n/a
36	ETS1	chr7:100422958-100423249	K562	blood:	n/a	n/a
37	SMC3	chr7:100422082-100425966	SK-N-SH	brain:	n/a	chr7:100425461-100425475 chr7:100425599-100425613 chr7:100423470-100423478 chr7:100423840-100423848 chr7:100423796-100423804
38	STAT3	chr7:100422961-100423110	MCF10A-Er-Src	breast:	n/a	chr7:100422962-100422973
39	MYC	chr7:100422869-100423238	HUVEC	blood vessel:	n/a	n/a
40	MXI1	chr7:100421736-100424014	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr7:100422030-100424812	SK-N-MC	brain:	n/a	n/a
42	MAZ	chr7:100422949-100425857	IMR90	lung:	n/a	chr7:100424953-100424963 chr7:100424987-100424997
43	POLR2A	chr7:100422765-100423282	HUVEC	blood vessel:	n/a	n/a
44	STAT3	chr7:100423023-100423451	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr7:100423003-100423218	H1-hESC	embryonic stem cell:	n/a	n/a
46	SIN3AK20	chr7:100422858-100423346	PANC-1	pancreas:	n/a	n/a
47	MAX	chr7:100422972-100423239	HepG2	liver:	n/a	n/a
48	MAX	chr7:100422899-100423314	H1-hESC	embryonic stem cell:	n/a	n/a
49	MXI1	chr7:100422955-100423303	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100422826..100425783-chr7:100447402..100452140,5	K562	blood:
2	chr7:100422507..100426422-chr7:100448675..100454510,8	MCF-7	breast:
3	chr7:100421802..100424702-chr7:100482689..100484467,2	MCF-7	breast:
4	chr7:100422507..100425208-chr7:100700393..100702455,2	MCF-7	breast:
5	chr7:100026028..100027729-chr7:100422435..100425262,2	MCF-7	breast:
6	chr7:100422126..100425537-chr7:100471170..100475559,4	MCF-7	breast:
7	chr7:100410343..100413835-chr7:100422249..100426210,7	MCF-7	breast:
8	chr7:100208147..100211165-chr7:100422696..100426389,3	MCF-7	breast:
9	chr7:100403718..100405403-chr7:100421041..100423553,2	MCF-7	breast:

Variant related genes	Relation type
SLC12A9	TF binding region
RN7SL750P	TF binding region
EPHB4	TF binding region
ENSG00000236305	Chromatin interaction
ENSG00000196411	Chromatin interaction
ENSG00000222636	Chromatin interaction
ENSG00000106330	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000087087	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000078487	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs191137	0.85[EUR][1000 genomes]
rs28373056	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs314303	0.83[EUR][1000 genomes]
rs314308	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs314333	0.83[EUR][1000 genomes]
rs3847060	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3847061	0.92[EUR][1000 genomes]
rs3847062	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41280995	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41280998	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55982265	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56135824	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56173078	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56326327	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60720150	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73170798	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170800	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73172604	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73172605	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73172610	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv470381	chr7:100240191-100431980	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv888796	chr7:100313420-100423365	Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
8	nsv464647	chr7:100374087-100497131	Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
9	nsv607965	chr7:100374087-100497131	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
10	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
11	nsv888797	chr7:100386900-100482026	Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
12	nsv888798	chr7:100406144-100472826	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
13	nsv888799	chr7:100406144-100497131	Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
14	nsv888800	chr7:100411278-100436446	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
15	nsv888801	chr7:100416250-100497131	Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
16	nsv464648	chr7:100422156-100518458	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
17	nsv607966	chr7:100422156-100518458	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100401600-100423200	Weak transcription	Brain Anterior Caudate	brain
2	chr7:100413600-100423400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:100420000-100423200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:100421400-100423200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:100421800-100423400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:100421800-100424000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:100421800-100425000	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr7:100422000-100423600	Flanking Active TSS	HUVEC	blood vessel
9	chr7:100422200-100423200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
10	chr7:100422200-100423200	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
11	chr7:100422200-100423200	Enhancers	Fetal Heart	heart
12	chr7:100422200-100423400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:100422200-100423400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr7:100422200-100423400	Enhancers	Spleen	Spleen
15	chr7:100422200-100423600	Flanking Active TSS	Ovary	ovary
16	chr7:100422200-100423600	Flanking Active TSS	NHEK	skin
17	chr7:100422200-100424200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
18	chr7:100422200-100424600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
19	chr7:100422200-100426400	Active TSS	Right Ventricle	heart
20	chr7:100422400-100423200	Enhancers	Primary B cells from cord blood	blood
21	chr7:100422400-100423200	Enhancers	Brain Hippocampus Middle	brain
22	chr7:100422400-100423200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr7:100422400-100423400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:100422400-100423400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
25	chr7:100422400-100423400	Flanking Active TSS	Gastric	stomach
26	chr7:100422400-100423600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:100422400-100423600	Flanking Active TSS	HepG2	liver
28	chr7:100422400-100424000	Flanking Active TSS	Colonic Mucosa	Colon
29	chr7:100422400-100424400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr7:100422400-100424400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr7:100422400-100424400	Flanking Active TSS	Fetal Muscle Leg	muscle
32	chr7:100422400-100425600	Active TSS	Lung	lung
33	chr7:100422400-100425800	Active TSS	Left Ventricle	heart
34	chr7:100422400-100426400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:100422400-100426400	Active TSS	Right Atrium	heart
36	chr7:100422600-100423200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:100422600-100423200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
38	chr7:100422600-100424200	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr7:100422600-100424200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
40	chr7:100422600-100424400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:100422600-100424400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:100422600-100424400	Flanking Active TSS	Brain Germinal Matrix	brain
43	chr7:100422600-100424800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr7:100422600-100426400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:100422800-100423200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
46	chr7:100422800-100423200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:100422800-100423200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:100422800-100423200	Active TSS	NHLF	lung
49	chr7:100422800-100423400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr7:100422800-100423400	Flanking Active TSS	Esophagus	oesophagus

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