Variant report

Variant	rs1734753
Chromosome Location	chr7:101932124-101932125
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:101931629-101933375	GM15510	blood:	n/a	n/a
2	RUNX3	chr7:101930626-101933732	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:101929531-101935334	GM12892	blood:	n/a	n/a
4	SPI1	chr7:101931823-101932311	HL-60	blood:	n/a	n/a
5	POLR2A	chr7:101931601-101933338	GM12878	blood:	n/a	n/a
6	MTA3	chr7:101930635-101933343	GM12878	blood:	n/a	n/a
7	WRNIP1	chr7:101931640-101932182	GM12878	blood:	n/a	n/a
8	MTA3	chr7:101931492-101932649	GM12878	blood:	n/a	n/a
9	RUNX3	chr7:101931535-101933007	GM12878	blood:	n/a	n/a
10	MXI1	chr7:101931650-101933407	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:101931946-101933212	GM12892	blood:	n/a	n/a
12	POLR2A	chr7:101930825-101933366	GM12878	blood:	n/a	n/a
13	CHD1	chr7:101931843-101932133	GM12878	blood:	n/a	n/a
14	REST	chr7:101931860-101932312	HL-60	blood:	n/a	n/a
15	MAZ	chr7:101931540-101932181	GM12878	blood:	n/a	n/a
16	POLR2A	chr7:101927777-101935499	GM18505	blood:	n/a	n/a
17	POLR2A	chr7:101932067-101933240	GM12892	blood:	n/a	n/a
18	POLR2A	chr7:101930900-101935462	GM12891	blood:	n/a	n/a
19	STAT5A	chr7:101930863-101933700	GM12878	blood:	n/a	chr7:101932319-101932331 chr7:101933074-101933086 chr7:101932314-101932325
20	BCLAF1	chr7:101932078-101932752	GM12878	blood:	n/a	chr7:101932316-101932325
21	CTCF	chr7:101931980-101932130	GM06990	blood:	n/a	n/a
22	POLR2A	chr7:101927816-101934148	Raji	blood:	n/a	n/a
23	CTCF	chr7:101932060-101932210	GM12865	blood:	n/a	n/a
24	ZNF143	chr7:101931533-101932134	GM12878	blood:	n/a	n/a
25	SPI1	chr7:101931928-101932354	GM12891	blood:	n/a	n/a
26	MAZ	chr7:101928684-101932188	IMR90	lung:	n/a	chr7:101929563-101929573 chr7:101929883-101929893
27	ZNF263	chr7:101930190-101932434	HEK293-T-REx	kidney:	n/a	chr7:101930405-101930426 chr7:101930541-101930550
28	RELA	chr7:101931679-101932952	GM15510	blood:	n/a	n/a
29	POLR2A	chr7:101931928-101933353	GM12878	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101930001..101933436-chr7:101942768..101945617,4	MCF-7	breast:
2	chr7:101931067..101932687-chr7:101942906..101945348,2	MCF-7	breast:
3	chr7:101928798..101932445-chr7:101950032..101952249,4	MCF-7	breast:
4	chr7:101924860..101932400-chr7:102029531..102038487,21	MCF-7	breast:
5	chr7:101929445..101932504-chr7:101961443..101964470,3	MCF-7	breast:
6	chr7:101929193..101933114-chr7:102002714..102005580,3	K562	blood:
7	chr7:101924242..101933059-chr7:102034727..102040076,14	MCF-7	breast:
8	chr7:101931459..101933316-chr7:102074143..102076023,2	K562	blood:
9	chr7:101929371..101932604-chr7:101956316..101959591,3	MCF-7	breast:
10	chr7:101930945..101933458-chr7:101949436..101952380,2	K562	blood:
11	chr7:101929405..101932228-chr7:102004089..102006204,3	MCF-7	breast:
12	chr7:101931480..101934447-chr7:101940162..101942129,3	MCF-7	breast:
13	chr7:101928285..101931151-chr7:101931936..101935513,3	K562	blood:
14	chr7:101927779..101934386-chr7:102001430..102005829,12	MCF-7	breast:

No data

Variant related genes	Relation type
MIR4285	TF binding region
ENSG00000160999	Chromatin interaction
ENSG00000239480	Chromatin interaction
ENSG00000239969	Chromatin interaction
ENSG00000128563	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1725621	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1734735	0.83[EUR][1000 genomes]
rs2694160	0.83[EUR][1000 genomes]
rs712837	0.83[EUR][1000 genomes]
rs712839	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs712840	0.83[EUR][1000 genomes]
rs712841	0.89[EUR][1000 genomes]
rs803063	0.83[EUR][1000 genomes]
rs803083	0.83[EUR][1000 genomes]
rs803084	0.83[EUR][1000 genomes]
rs803085	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs803087	0.88[EUR][1000 genomes]
rs803088	0.84[EUR][1000 genomes]
rs803091	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs803093	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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
18	nsv888828	chr7:101921289-101939759	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	23 gene(s)	inside rSNPs	diseases
19	nsv888829	chr7:101926788-101946385	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	22 gene(s)	inside rSNPs	diseases
20	nsv888830	chr7:101926788-101957518	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1734753	SH2B2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101929400-101932200	Active TSS	HSMMtube	muscle
2	chr7:101930400-101932600	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr7:101930400-101933000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr7:101930800-101932600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr7:101931000-101932400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr7:101931000-101932400	Flanking Active TSS	HSMM	muscle
7	chr7:101931000-101933200	Flanking Active TSS	Primary B cells from peripheral blood	blood
8	chr7:101931200-101932200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:101931200-101933000	Flanking Active TSS	Fetal Brain Female	brain
10	chr7:101931400-101932200	Enhancers	Fetal Lung	lung
11	chr7:101931400-101932400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr7:101931400-101932400	Enhancers	Esophagus	oesophagus
13	chr7:101931400-101932400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr7:101931400-101932600	Active TSS	Colonic Mucosa	Colon
15	chr7:101931400-101932600	Bivalent Enhancer	Fetal Thymus	thymus
16	chr7:101931400-101933000	Enhancers	Lung	lung
17	chr7:101931400-101935000	Weak transcription	HMEC	breast
18	chr7:101931400-101939000	Weak transcription	Right Atrium	heart
19	chr7:101931400-101944200	Weak transcription	Gastric	stomach
20	chr7:101931600-101932200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:101931600-101932200	Enhancers	Brain Angular Gyrus	brain
22	chr7:101931600-101932200	Enhancers	A549	lung
23	chr7:101931600-101932200	Bivalent Enhancer	Dnd41	blood
24	chr7:101931600-101932400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr7:101931600-101932400	Bivalent Enhancer	HepG2	liver
26	chr7:101931600-101932600	Enhancers	Brain Anterior Caudate	brain
27	chr7:101931600-101932800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:101931600-101932800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr7:101931600-101932800	Enhancers	Fetal Muscle Trunk	muscle
30	chr7:101931600-101932800	Enhancers	Stomach Smooth Muscle	stomach
31	chr7:101931600-101933000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr7:101931600-101933000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr7:101931600-101933200	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr7:101931600-101933200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:101931600-101933200	Enhancers	Placenta	Placenta
36	chr7:101931600-101933200	Enhancers	Psoas Muscle	Psoas
37	chr7:101931600-101933400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:101931600-101934800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:101931600-101936000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr7:101931600-101936000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr7:101931600-101936200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:101931600-101943800	Weak transcription	Ovary	ovary
43	chr7:101931800-101932200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
44	chr7:101931800-101932200	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr7:101931800-101932200	Active TSS	Duodenum Mucosa	Duodenum
46	chr7:101931800-101932200	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr7:101931800-101932400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:101931800-101932400	Enhancers	Brain Hippocampus Middle	brain
49	chr7:101931800-101932400	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr7:101931800-101932400	Enhancers	Rectal Mucosa Donor 31	rectum

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