Variant report

Variant	rs61744397
Chromosome Location	chr7:7613039-7613040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:7606446..7610698-chr7:7610910..7617094,11	MCF-7	breast:
2	chr7:7610480..7614145-chr7:7617850..7622479,5	K562	blood:
3	chr7:7601507..7604007-chr7:7611851..7613934,2	MCF-7	breast:
4	chr7:7612471..7615388-chr7:8317222..8318843,2	K562	blood:

Variant related genes	Relation type
ENSG00000272894	Chromatin interaction
ENSG00000164654	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10226811	0.82[EUR][1000 genomes]
rs10229355	0.84[EUR][1000 genomes]
rs10247676	0.84[EUR][1000 genomes]
rs10255201	0.80[EUR][1000 genomes]
rs1029571	0.88[EUR][1000 genomes]
rs10486165	0.80[EUR][1000 genomes]
rs10486166	0.82[EUR][1000 genomes]
rs10486168	0.85[EUR][1000 genomes]
rs10486171	0.84[EUR][1000 genomes]
rs10486176	0.81[EUR][1000 genomes]
rs11977826	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11980579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16878062	0.80[EUR][1000 genomes]
rs16878455	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17168096	0.82[EUR][1000 genomes]
rs17168127	0.83[EUR][1000 genomes]
rs17168144	0.85[EUR][1000 genomes]
rs17168145	0.85[EUR][1000 genomes]
rs17168215	0.85[EUR][1000 genomes]
rs17168290	0.81[EUR][1000 genomes]
rs2108065	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28579471	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34567266	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35591002	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35842621	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3779375	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3807857	0.93[ASN][1000 genomes]
rs4320465	0.83[EUR][1000 genomes]
rs4543457	0.82[EUR][1000 genomes]
rs55769451	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55798422	0.82[EUR][1000 genomes]
rs55827101	0.82[EUR][1000 genomes]
rs55924331	0.88[EUR][1000 genomes]
rs55980077	0.82[EUR][1000 genomes]
rs56022797	0.81[EUR][1000 genomes]
rs56084871	0.82[EUR][1000 genomes]
rs56330916	0.82[EUR][1000 genomes]
rs57521604	0.85[EUR][1000 genomes]
rs58798360	0.81[EUR][1000 genomes]
rs60668247	0.83[EUR][1000 genomes]
rs60958181	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60977515	0.83[EUR][1000 genomes]
rs61543470	0.85[EUR][1000 genomes]
rs6463710	0.80[ASN][1000 genomes]
rs6945969	0.85[EUR][1000 genomes]
rs6948300	0.85[EUR][1000 genomes]
rs6949534	0.80[EUR][1000 genomes]
rs6962455	0.82[EUR][1000 genomes]
rs6963106	0.82[EUR][1000 genomes]
rs6964749	0.85[EUR][1000 genomes]
rs6965546	0.83[EUR][1000 genomes]
rs6966601	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6971367	0.82[EUR][1000 genomes]
rs6971414	0.80[EUR][1000 genomes]
rs6971456	0.85[EUR][1000 genomes]
rs6972142	0.82[EUR][1000 genomes]
rs6975571	0.82[EUR][1000 genomes]
rs73340632	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73340693	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73346330	0.82[EUR][1000 genomes]
rs73674580	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7459128	0.87[EUR][1000 genomes]
rs7780426	0.82[EUR][1000 genomes]
rs7788388	0.86[ASN][1000 genomes]
rs7789255	0.80[EUR][1000 genomes]
rs929378	0.87[EUR][1000 genomes]
rs972766	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1019498	chr7:7053923-7668373	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv538721	chr7:7053923-7668373	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers 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 target site	84 gene(s)	inside rSNPs	diseases
5	nsv887470	chr7:7310023-7655094	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv887472	chr7:7405069-7680697	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv887474	chr7:7519603-7679644	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv887475	chr7:7519603-7679644	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	nsv887476	chr7:7519603-7680697	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
13	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 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	chr7:7607200-7648400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:7607400-7646400	Weak transcription	Esophagus	oesophagus
3	chr7:7607400-7648200	Weak transcription	Lung	lung
4	chr7:7607600-7613400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:7607600-7646400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:7607600-7648400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr7:7607800-7621400	Weak transcription	Aorta	Aorta
8	chr7:7608200-7648800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr7:7608400-7630800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:7608400-7648600	Weak transcription	NH-A	brain
11	chr7:7608800-7620600	Weak transcription	Fetal Stomach	stomach
12	chr7:7608800-7621200	Weak transcription	Fetal Intestine Small	intestine
13	chr7:7608800-7622200	Weak transcription	HUVEC	blood vessel
14	chr7:7608800-7635800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr7:7609000-7621000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:7609000-7621200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:7609200-7613200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:7609200-7613800	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:7609400-7621000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr7:7609400-7621000	Weak transcription	Brain Substantia Nigra	brain
21	chr7:7609400-7639400	Weak transcription	Fetal Heart	heart
22	chr7:7609400-7640800	Weak transcription	Stomach Mucosa	stomach
23	chr7:7609400-7645600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr7:7609400-7648400	Weak transcription	Colon Smooth Muscle	Colon
25	chr7:7609400-7649000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr7:7609600-7613400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr7:7609600-7613400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:7609600-7613400	Strong transcription	Fetal Muscle Leg	muscle
29	chr7:7609600-7621000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:7609600-7621200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:7609600-7621200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr7:7609600-7629000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:7609600-7630400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr7:7609600-7634600	Weak transcription	HepG2	liver
35	chr7:7609600-7641000	Weak transcription	Spleen	Spleen
36	chr7:7609600-7642200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:7609600-7649000	Weak transcription	Right Ventricle	heart
38	chr7:7609600-7650400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:7609600-7651000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr7:7609600-7652600	Weak transcription	Fetal Brain Male	brain
41	chr7:7609800-7615800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr7:7609800-7635800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr7:7609800-7648000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr7:7609800-7648800	Weak transcription	Brain Germinal Matrix	brain
45	chr7:7610000-7632200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr7:7610200-7615400	Strong transcription	Fetal Thymus	thymus
47	chr7:7610400-7615200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr7:7610400-7617800	Strong transcription	HSMM	muscle
49	chr7:7610400-7640800	Weak transcription	Brain Hippocampus Middle	brain
50	chr7:7610600-7621000	Weak transcription	H1 Cell Line	embryonic stem cell

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