Variant report

Variant	rs7560366
Chromosome Location	chr2:101189415-101189416
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:101183072..101185722-chr2:101186907..101190302,3	K562	blood:
2	chr2:101182194..101185722-chr2:101188330..101190302,3	K562	blood:

Variant related genes	Relation type
ENSG00000115539	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10178491	1.00[ASN][1000 genomes]
rs10190324	1.00[ASN][1000 genomes]
rs10200086	0.82[ASN][1000 genomes]
rs1052117	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1114285	0.82[ASN][1000 genomes]
rs11681805	0.92[ASN][1000 genomes]
rs11691661	1.00[ASN][1000 genomes]
rs12469332	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12618862	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12622226	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13393125	0.82[ASN][1000 genomes]
rs13418741	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1401753	0.82[ASN][1000 genomes]
rs1533655	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2309848	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28560372	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28673254	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28694778	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2971007	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4850940	1.00[ASN][1000 genomes]
rs4851334	1.00[ASN][1000 genomes]
rs4851335	1.00[ASN][1000 genomes]
rs4851337	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4851338	1.00[ASN][1000 genomes]
rs56242838	0.85[AFR][1000 genomes]
rs58420974	1.00[ASN][1000 genomes]
rs61370232	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62155213	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66689046	0.82[ASN][1000 genomes]
rs67061569	1.00[ASN][1000 genomes]
rs6739992	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746622	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6747613	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6748900	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6753993	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7557603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594904	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7596475	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv582532	chr2:101029002-101531943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv834312	chr2:101044438-101238166	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101180200-101194400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:101180600-101192600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:101180600-101192800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:101180600-101193400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:101180600-101194400	Weak transcription	NHDF-Ad	bronchial
6	chr2:101180600-101197800	Weak transcription	Stomach Mucosa	stomach
7	chr2:101180800-101195600	Weak transcription	Fetal Heart	heart
8	chr2:101180800-101195800	Strong transcription	Fetal Stomach	stomach
9	chr2:101180800-101196800	Weak transcription	NHLF	lung
10	chr2:101180800-101197000	Weak transcription	Colonic Mucosa	Colon
11	chr2:101180800-101197200	Weak transcription	Small Intestine	intestine
12	chr2:101181000-101195800	Strong transcription	Fetal Muscle Trunk	muscle
13	chr2:101181200-101191200	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:101181400-101195800	Strong transcription	Fetal Muscle Leg	muscle
15	chr2:101181400-101196200	Weak transcription	Gastric	stomach
16	chr2:101181400-101196800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:101181600-101196600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr2:101181600-101197200	Weak transcription	Brain Angular Gyrus	brain
19	chr2:101182000-101194600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:101182600-101191600	Strong transcription	Dnd41	blood
21	chr2:101182600-101192800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:101182600-101193600	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr2:101182600-101194200	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:101182600-101195800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:101182600-101195800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:101182800-101189800	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:101182800-101192200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr2:101182800-101192400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:101182800-101192800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:101182800-101193400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:101182800-101194600	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:101182800-101194600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:101182800-101194600	Strong transcription	Primary B cells from peripheral blood	blood
34	chr2:101182800-101194600	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr2:101182800-101194600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr2:101182800-101194600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:101182800-101194800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:101182800-101195000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:101182800-101195000	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr2:101182800-101195200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:101182800-101195200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:101182800-101195600	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:101183000-101189800	Strong transcription	Brain Substantia Nigra	brain
44	chr2:101183000-101189800	Strong transcription	Fetal Thymus	thymus
45	chr2:101183000-101190000	Strong transcription	Adipose Nuclei	Adipose
46	chr2:101183000-101190200	Strong transcription	Fetal Intestine Large	intestine
47	chr2:101183000-101192600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:101183000-101193200	Strong transcription	Fetal Intestine Small	intestine
49	chr2:101183000-101194000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:101183000-101194200	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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