Variant report

Variant	rs753431
Chromosome Location	chr2:127830299-127830300
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:127829702..127832406-chr2:127833096..127835380,2	K562	blood:
2	chr2:127829694..127830341-chr2:127897153..127898129,2	MCF-7	breast:
3	chr2:127829446..127832299-chr2:127837118..127839537,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1060743	0.86[CHB][hapmap];0.95[CHD][hapmap];0.87[ASN][1000 genomes]
rs3768859	0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs3768860	0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs3820757	0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs752780	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs753429	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs753430	0.96[CEU][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7572041	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999422	chr2:127464647-127956543	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1004930	chr2:127477369-127938234	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv459230	chr2:127771006-127844735	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv583032	chr2:127771006-127844735	Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1003730	chr2:127794288-127860830	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1003461	chr2:127794288-127862257	Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv516759	chr2:127796666-127859441	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv1000994	chr2:127797089-127860830	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv1825024	chr2:127798138-127864285	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv459241	chr2:127800981-127868435	Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv583033	chr2:127800981-127868435	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv875011	chr2:127800981-127868435	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv875012	chr2:127800981-127895573	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1002673	chr2:127801964-127860830	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv1010577	chr2:127801964-127862257	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv1011224	chr2:127802375-127860830	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv1003887	chr2:127802375-127862257	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	nsv1009309	chr2:127802730-127862257	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	nsv1014290	chr2:127805366-127860830	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	nsv1010084	chr2:127805366-127862257	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	nsv997855	chr2:127806424-127857946	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
22	nsv1001673	chr2:127810478-127858634	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
23	nsv1002124	chr2:127810478-127860830	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
24	nsv1005423	chr2:127814781-127857751	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
25	nsv997847	chr2:127814781-127858634	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
26	nsv1014118	chr2:127814781-127860830	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
27	nsv999224	chr2:127821207-127860830	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers 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	3 gene(s)	inside rSNPs	diseases
28	nsv583035	chr2:127825968-127844735	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
29	nsv1001064	chr2:127828941-127862257	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
30	nsv1006112	chr2:127830117-128032546	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs753431	MYO7B	cis	parietal	SCAN
rs753431	BIN1	Cis_1M	lymphoblastoid	RTeQTL
rs753431	MZT2B	cis	parietal	SCAN

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127808600-127834200	Strong transcription	Primary T cells from cord blood	blood
2	chr2:127815200-127850800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:127816800-127831200	Weak transcription	Fetal Brain Female	brain
4	chr2:127817200-127833800	Genic enhancers	Spleen	Spleen
5	chr2:127818400-127844400	Genic enhancers	Fetal Muscle Leg	muscle
6	chr2:127821200-127838600	Genic enhancers	Fetal Muscle Trunk	muscle
7	chr2:127822800-127836600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:127822800-127836800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:127823000-127832800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr2:127823200-127830600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:127823200-127831800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:127823200-127832600	Weak transcription	GM12878-XiMat	blood
13	chr2:127823200-127838200	Weak transcription	Left Ventricle	heart
14	chr2:127823400-127839200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:127823600-127838800	Weak transcription	Fetal Kidney	kidney
16	chr2:127824000-127838400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:127824800-127830400	Genic enhancers	Brain Angular Gyrus	brain
18	chr2:127825000-127830400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:127825000-127831000	Strong transcription	Thymus	Thymus
20	chr2:127825400-127832400	Weak transcription	Right Atrium	heart
21	chr2:127825600-127836600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:127825600-127840000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:127825800-127830600	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr2:127825800-127830600	Weak transcription	Fetal Heart	heart
25	chr2:127825800-127830800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr2:127825800-127831000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:127825800-127832000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:127825800-127834600	Weak transcription	NHEK	skin
29	chr2:127825800-127835600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:127825800-127836600	Weak transcription	Pancreas	Pancrea
31	chr2:127825800-127836600	Weak transcription	Osteobl	bone
32	chr2:127825800-127838400	Weak transcription	HUVEC	blood vessel
33	chr2:127826000-127830600	Strong transcription	Fetal Intestine Small	intestine
34	chr2:127826000-127830600	Strong transcription	Fetal Stomach	stomach
35	chr2:127826000-127830800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:127826000-127831400	Strong transcription	Fetal Thymus	thymus
37	chr2:127826000-127831800	Weak transcription	Stomach Mucosa	stomach
38	chr2:127826000-127832000	Weak transcription	A549	lung
39	chr2:127826000-127832800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr2:127826000-127833200	Genic enhancers	Brain Hippocampus Middle	brain
41	chr2:127826000-127833600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr2:127826000-127834200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:127826000-127834800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:127826000-127836000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr2:127826200-127832200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr2:127826200-127835200	Weak transcription	Esophagus	oesophagus
47	chr2:127826600-127831200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:127826800-127830600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
49	chr2:127826800-127832600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr2:127827000-127831000	Strong transcription	Gastric	stomach

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