Variant report

Variant	rs712837
Chromosome Location	chr7:101915498-101915499
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	chr7:101915466-101915866	GM12878	blood:	n/a	n/a
2	MXI1	chr7:101915498-101915738	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAFK	chr7:101915448-101915721	IMR90	lung:	n/a	n/a
4	RAD21	chr7:101915478-101915859	A549	lung:	n/a	chr7:101915666-101915685 chr7:101915668-101915680 chr7:101915670-101915680
5	CTCF	chr7:101915479-101915884	HepG2	liver:	n/a	chr7:101915674-101915683 chr7:101915663-101915684 chr7:101915668-101915686 chr7:101915670-101915683 chr7:101915669-101915685
6	FOS	chr7:101915257-101915694	MCF10A-Er-Src	breast:	n/a	chr7:101915447-101915455 chr7:101915445-101915457
7	GABPA	chr7:101915406-101915898	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr7:101915390-101915945	MCF-7	breast:	n/a	chr7:101915674-101915683 chr7:101915663-101915684 chr7:101915668-101915686 chr7:101915670-101915683 chr7:101915669-101915685
9	HMGN3	chr7:101915413-101915761	K562	blood:	n/a	n/a
10	MXI1	chr7:101915466-101915872	HepG2	liver:	n/a	n/a
11	CTCF	chr7:101915465-101915830	H1-hESC	embryonic stem cell:	n/a	chr7:101915674-101915683 chr7:101915663-101915684 chr7:101915668-101915686 chr7:101915670-101915683 chr7:101915669-101915685
12	RAD21	chr7:101915317-101915972	ECC-1	luminal epithelium:	n/a	chr7:101915666-101915685 chr7:101915668-101915680 chr7:101915670-101915680
13	BHLHE40	chr7:101915482-101915837	K562	blood:	n/a	n/a
14	RAD21	chr7:101915442-101915894	ECC-1	luminal epithelium:	n/a	chr7:101915666-101915685 chr7:101915668-101915680 chr7:101915670-101915680
15	FOS	chr7:101915310-101915702	MCF10A-Er-Src	breast:	n/a	chr7:101915447-101915455 chr7:101915445-101915457
16	RAD21	chr7:101915279-101915927	HepG2	liver:	n/a	chr7:101915666-101915685 chr7:101915668-101915680 chr7:101915670-101915680
17	RAD21	chr7:101915446-101915970	HepG2	liver:	n/a	chr7:101915666-101915685 chr7:101915668-101915680 chr7:101915670-101915680
18	MYC	chr7:101915478-101915807	K562	blood:	n/a	n/a
19	FOS	chr7:101915257-101915628	MCF10A-Er-Src	breast:	n/a	chr7:101915447-101915455 chr7:101915445-101915457
20	SMC3	chr7:101915190-101916415	SK-N-SH	brain:	n/a	chr7:101915670-101915684 chr7:101915670-101915680
21	MAZ	chr7:101915421-101915851	K562	blood:	n/a	chr7:101915447-101915456
22	CTCF	chr7:101915493-101915852	ECC-1	luminal epithelium:	n/a	chr7:101915674-101915683 chr7:101915663-101915684 chr7:101915668-101915686 chr7:101915670-101915683 chr7:101915669-101915685
23	YY1	chr7:101915451-101915844	H1-hESC	embryonic stem cell:	n/a	chr7:101915572-101915586 chr7:101915506-101915517
24	RCOR1	chr7:101915476-101915962	HepG2	liver:	n/a	n/a
25	FOXM1	chr7:101915478-101915853	GM12878	blood:	n/a	n/a
26	RAD21	chr7:101915206-101916043	HCT-116	colon:	n/a	chr7:101915666-101915685 chr7:101915668-101915680 chr7:101916007-101916020 chr7:101915670-101915680
27	TEAD4	chr7:101915452-101915805	H1-hESC	embryonic stem cell:	n/a	n/a
28	RAD21	chr7:101915360-101915913	A549	lung:	n/a	chr7:101915666-101915685 chr7:101915668-101915680 chr7:101915670-101915680
29	RAD21	chr7:101915234-101916095	A549	lung:	n/a	chr7:101915666-101915685 chr7:101915668-101915680 chr7:101916007-101916020 chr7:101915670-101915680
30	CTCF	chr7:101915455-101915929	GM12878	blood:	n/a	chr7:101915674-101915683 chr7:101915663-101915684 chr7:101915668-101915686 chr7:101915670-101915683 chr7:101915669-101915685
31	CTCF	chr7:101915445-101915829	T-47D	breast:	n/a	chr7:101915674-101915683 chr7:101915663-101915684 chr7:101915668-101915686 chr7:101915670-101915683 chr7:101915669-101915685
32	CTCF	chr7:101915455-101915813	A549	lung:	n/a	chr7:101915674-101915683 chr7:101915663-101915684 chr7:101915668-101915686 chr7:101915670-101915683 chr7:101915669-101915685
33	TEAD4	chr7:101915411-101915800	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr7:101915286-101916055	HCT-116	colon:	n/a	chr7:101915674-101915683 chr7:101915663-101915684 chr7:101915668-101915686 chr7:101915670-101915683 chr7:101916008-101916021 chr7:101915669-101915685
35	CREB1	chr7:101915470-101915839	A549	lung:	n/a	n/a
36	CTCF	chr7:101915227-101916539	SK-N-SH	brain:	n/a	chr7:101915674-101915683 chr7:101915663-101915684 chr7:101915668-101915686 chr7:101915670-101915683 chr7:101916008-101916021 chr7:101915669-101915685
37	CTCF	chr7:101915496-101915823	A549	lung:	n/a	chr7:101915674-101915683 chr7:101915663-101915684 chr7:101915668-101915686 chr7:101915670-101915683 chr7:101915669-101915685
38	MYBL2	chr7:101915455-101915874	HepG2	liver:	n/a	n/a
39	CTCF	chr7:101915470-101915755	A549	lung:	n/a	chr7:101915674-101915683 chr7:101915663-101915684 chr7:101915668-101915686 chr7:101915670-101915683 chr7:101915669-101915685
40	POLR2A	chr7:101915383-101915806	IMR90	lung:	n/a	n/a
41	CTCF	chr7:101915494-101916012	GM12891	blood:	n/a	chr7:101915674-101915683 chr7:101915663-101915684 chr7:101915668-101915686 chr7:101915670-101915683 chr7:101915669-101915685
42	MAZ	chr7:101915475-101915812	Hela-S3	cervix:	n/a	n/a
43	RAD21	chr7:101915450-101915835	GM12878	blood:	n/a	chr7:101915666-101915685 chr7:101915668-101915680 chr7:101915670-101915680
44	RAD21	chr7:101915456-101915839	K562	blood:	n/a	chr7:101915666-101915685 chr7:101915668-101915680 chr7:101915670-101915680
45	MAZ	chr7:101915210-101915891	IMR90	lung:	n/a	chr7:101915447-101915456
46	BRCA1	chr7:101915485-101915912	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr7:101915410-101915930	K562	blood:	n/a	chr7:101915674-101915683 chr7:101915663-101915684 chr7:101915668-101915686 chr7:101915670-101915683 chr7:101915669-101915685
48	CTCF	chr7:101915488-101915845	Fibrobl	skin:	n/a	chr7:101915674-101915683 chr7:101915663-101915684 chr7:101915668-101915686 chr7:101915670-101915683 chr7:101915669-101915685
49	REST	chr7:101915498-101915797	SK-N-SH	brain:	n/a	chr7:101915705-101915712
50	ZNF263	chr7:101915380-101915917	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:101264280..101265109-chr7:101915196..101916107,2	K562	blood:
2	chr7:101185838..101186446-chr7:101915281..101916199,2	MCF-7	breast:
3	chr7:101912928..101918938-chr7:101926951..101931541,5	K562	blood:
4	chr7:101456296..101461488-chr7:101913983..101918398,7	MCF-7	breast:
5	chr7:101914536..101919891-chr7:101927361..101932016,8	MCF-7	breast:
6	chr7:101616133..101616659-chr7:101915350..101915859,2	MCF-7	breast:
7	chr7:101186133..101186765-chr7:101915337..101916114,3	MCF-7	breast:
8	chr7:101905664..101912397-chr7:101912509..101916552,6	K562	blood:
9	chr7:101245451..101246297-chr7:101914933..101915725,2	MCF-7	breast:
10	chr7:101913664..101916452-chr7:101928530..101931361,3	MCF-7	breast:

Variant related genes	Relation type
CUX1	TF binding region
ENSG00000160999	Chromatin interaction
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1613236	0.83[ASN][1000 genomes]
rs1725603	0.86[ASN][1000 genomes]
rs1725604	0.86[ASN][1000 genomes]
rs1734733	0.86[ASN][1000 genomes]
rs1734735	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1734753	0.83[EUR][1000 genomes]
rs2257738	0.83[ASN][1000 genomes]
rs2694160	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs712838	0.86[ASN][1000 genomes]
rs712839	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs712840	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs712841	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs803063	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs803064	0.85[ASN][1000 genomes]
rs803065	0.84[ASN][1000 genomes]
rs803083	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs803084	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs803085	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs803087	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs803088	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs803091	0.85[EUR][1000 genomes]
rs803093	0.81[EUR][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	nsv464662	chr7:101912320-101949128	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv464663	chr7:101912320-101949128	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	24 gene(s)	inside rSNPs	diseases
3	nsv607996	chr7:101912320-101949128	Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv607997	chr7:101912320-101949128	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	24 gene(s)	inside rSNPs	diseases
5	esv2758126	chr7:101912320-102005026	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
6	esv2759548	chr7:101912320-102005026	Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
7	esv1814780	chr7:101912320-102375950	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised 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	61 gene(s)	inside rSNPs	diseases
8	esv1819566	chr7:101912320-102375950	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	esv1822347	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
10	esv1825708	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
11	esv1842898	chr7:101912320-102375950	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
12	esv1847418	chr7:101912320-102375950	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised 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	61 gene(s)	inside rSNPs	diseases
13	nsv427798	chr7:101912320-102375950	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
14	nsv428182	chr7:101912320-102375950	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS 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 miRNA target site	61 gene(s)	inside rSNPs	diseases
15	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
16	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
17	esv1822373	chr7:101913187-101969458	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs712837	SH2B2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101892800-101928000	Weak transcription	Esophagus	oesophagus
2	chr7:101892800-101928400	Weak transcription	Right Ventricle	heart
3	chr7:101894000-101916800	Weak transcription	Lung	lung
4	chr7:101897600-101928000	Weak transcription	Primary T cells from cord blood	blood
5	chr7:101898000-101928200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:101898200-101922600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:101899800-101922800	Weak transcription	Right Atrium	heart
8	chr7:101900200-101915600	Weak transcription	Fetal Intestine Small	intestine
9	chr7:101902000-101917000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:101904600-101922800	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:101904600-101928200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:101908000-101917400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:101908000-101929200	Weak transcription	Gastric	stomach
14	chr7:101908400-101922600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr7:101910200-101928400	Weak transcription	Liver	Liver
16	chr7:101912200-101915800	Weak transcription	K562	blood
17	chr7:101912200-101922600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:101912400-101922600	Weak transcription	Fetal Thymus	thymus
19	chr7:101913400-101916600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:101913800-101916000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr7:101914200-101923000	Weak transcription	Fetal Brain Female	brain
22	chr7:101914400-101916200	Weak transcription	Spleen	Spleen
23	chr7:101914400-101923000	Weak transcription	Brain Hippocampus Middle	brain
24	chr7:101914800-101916000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr7:101915000-101918000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:101915200-101915600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:101915200-101916000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:101915200-101916000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:101915200-101916000	Enhancers	HMEC	breast
30	chr7:101915200-101916200	Enhancers	Osteobl	bone
31	chr7:101915400-101915600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr7:101915400-101915600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr7:101915400-101915600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:101915400-101915600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:101915400-101915600	Enhancers	Adipose Nuclei	Adipose
36	chr7:101915400-101915600	Active TSS	Brain Anterior Caudate	brain
37	chr7:101915400-101915600	Enhancers	Brain Cingulate Gyrus	brain
38	chr7:101915400-101915600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:101915400-101915600	Enhancers	Brain Substantia Nigra	brain
40	chr7:101915400-101915600	Enhancers	Colonic Mucosa	Colon
41	chr7:101915400-101915600	Enhancers	Fetal Lung	lung
42	chr7:101915400-101915600	Enhancers	Placenta Amnion	Placenta Amnion
43	chr7:101915400-101915600	Enhancers	Rectal Smooth Muscle	rectum
44	chr7:101915400-101915600	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr7:101915400-101915800	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr7:101915400-101915800	Enhancers	Primary T cells fromperipheralblood	blood
47	chr7:101915400-101915800	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr7:101915400-101915800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr7:101915400-101915800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:101915400-101915800	Enhancers	Brain Germinal Matrix	brain

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