Variant report

Variant	rs62385015
Chromosome Location	chr6:5191295-5191296
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:5189281..5191777-chr6:5204127..5205780,2	MCF-7	breast:
2	chr6:5191188..5193916-chr6:5259998..5262177,2	K562	blood:
3	chr6:5191188..5195166-chr6:5259406..5262990,4	K562	blood:

Variant related genes	Relation type
ENSG00000145982	Chromatin interaction
ENSG00000214113	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs11242997	1.00[ASN][1000 genomes]
rs11242998	1.00[ASN][1000 genomes]
rs13202971	1.00[ASN][1000 genomes]
rs13213703	1.00[ASN][1000 genomes]
rs13217077	1.00[ASN][1000 genomes]
rs13219584	1.00[ASN][1000 genomes]
rs13219950	1.00[ASN][1000 genomes]
rs17133271	1.00[ASN][1000 genomes]
rs17139776	1.00[ASN][1000 genomes]
rs17139831	1.00[ASN][1000 genomes]
rs17139838	1.00[ASN][1000 genomes]
rs17139841	1.00[ASN][1000 genomes]
rs17139846	1.00[ASN][1000 genomes]
rs17139848	1.00[ASN][1000 genomes]
rs17139851	1.00[ASN][1000 genomes]
rs17139853	1.00[ASN][1000 genomes]
rs17139856	1.00[ASN][1000 genomes]
rs17139860	1.00[ASN][1000 genomes]
rs34041880	1.00[ASN][1000 genomes]
rs34110180	1.00[ASN][1000 genomes]
rs34120947	1.00[ASN][1000 genomes]
rs34146318	1.00[ASN][1000 genomes]
rs34170037	1.00[ASN][1000 genomes]
rs34211615	1.00[ASN][1000 genomes]
rs34265509	1.00[ASN][1000 genomes]
rs34421021	1.00[ASN][1000 genomes]
rs34449449	1.00[ASN][1000 genomes]
rs34512910	1.00[ASN][1000 genomes]
rs34711553	1.00[ASN][1000 genomes]
rs34713043	1.00[ASN][1000 genomes]
rs34786730	1.00[ASN][1000 genomes]
rs34903116	1.00[ASN][1000 genomes]
rs34908251	1.00[ASN][1000 genomes]
rs34968006	1.00[ASN][1000 genomes]
rs34968842	1.00[ASN][1000 genomes]
rs35039476	1.00[ASN][1000 genomes]
rs35073344	1.00[ASN][1000 genomes]
rs35218696	1.00[ASN][1000 genomes]
rs35277899	1.00[ASN][1000 genomes]
rs35372007	1.00[ASN][1000 genomes]
rs35525232	1.00[ASN][1000 genomes]
rs35587351	1.00[ASN][1000 genomes]
rs35656919	1.00[ASN][1000 genomes]
rs35864979	1.00[ASN][1000 genomes]
rs35972876	1.00[ASN][1000 genomes]
rs36007403	1.00[ASN][1000 genomes]
rs56034435	1.00[ASN][1000 genomes]
rs58508775	1.00[ASN][1000 genomes]
rs59994371	1.00[ASN][1000 genomes]
rs60489951	1.00[ASN][1000 genomes]
rs60890075	1.00[ASN][1000 genomes]
rs61089858	1.00[ASN][1000 genomes]
rs6901286	1.00[ASN][1000 genomes]
rs6921627	1.00[ASN][1000 genomes]
rs6935667	1.00[ASN][1000 genomes]
rs6935687	1.00[ASN][1000 genomes]
rs71555883	1.00[ASN][1000 genomes]
rs71555885	1.00[ASN][1000 genomes]
rs71555886	1.00[ASN][1000 genomes]
rs71557546	1.00[ASN][1000 genomes]
rs71557549	1.00[ASN][1000 genomes]
rs71557550	1.00[ASN][1000 genomes]
rs71557551	1.00[ASN][1000 genomes]
rs73365051	1.00[ASN][1000 genomes]
rs73365064	1.00[ASN][1000 genomes]
rs73365082	1.00[ASN][1000 genomes]
rs73719720	1.00[ASN][1000 genomes]
rs73719741	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv600872	chr6:4975313-5342190	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1031837	chr6:4996667-5418726	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription 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	23 gene(s)	inside rSNPs	diseases
4	nsv1034681	chr6:5070351-5387176	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv538113	chr6:5070351-5387176	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1018152	chr6:5077025-5387176	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
7	nsv600873	chr6:5089278-5400658	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers 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	12 gene(s)	inside rSNPs	diseases
8	nsv1017821	chr6:5114609-5213200	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv538114	chr6:5114609-5213200	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1030254	chr6:5132261-5431585	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
11	nsv1034463	chr6:5137959-5345678	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
12	nsv1022336	chr6:5145194-5200687	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
13	nsv1018984	chr6:5145194-5200801	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1021646	chr6:5157795-5367254	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv538115	chr6:5157795-5367254	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv1029609	chr6:5187633-5397254	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5175800-5193400	Weak transcription	Brain Substantia Nigra	brain
2	chr6:5176200-5192400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr6:5176200-5201200	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:5176200-5203600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:5176200-5239600	Weak transcription	Thymus	Thymus
6	chr6:5177800-5205200	Weak transcription	Aorta	Aorta
7	chr6:5179200-5207600	Weak transcription	Primary B cells from cord blood	blood
8	chr6:5180000-5201000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:5180200-5212200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr6:5180400-5193200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr6:5180600-5192600	Weak transcription	Brain Angular Gyrus	brain
12	chr6:5180600-5195800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:5180600-5205000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr6:5180600-5205800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:5180600-5208200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:5181200-5204600	Weak transcription	Esophagus	oesophagus
17	chr6:5182000-5196200	Weak transcription	Pancreas	Pancrea
18	chr6:5182000-5213600	Weak transcription	Gastric	stomach
19	chr6:5182200-5191400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:5182200-5200000	Weak transcription	Left Ventricle	heart
21	chr6:5184200-5192600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr6:5186000-5192400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:5186400-5193600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:5186400-5195800	Weak transcription	K562	blood
25	chr6:5186400-5205000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:5186600-5191400	Weak transcription	Fetal Intestine Small	intestine
27	chr6:5186600-5196200	Weak transcription	Fetal Stomach	stomach
28	chr6:5186600-5200400	Weak transcription	Right Ventricle	heart
29	chr6:5186600-5202600	Weak transcription	Primary T cells from cord blood	blood
30	chr6:5187200-5194000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr6:5189000-5213200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr6:5189400-5205400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:5189800-5192200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:5189800-5194000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:5190200-5191600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:5190200-5191800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:5190200-5191800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:5190200-5191800	Enhancers	HSMM	muscle
39	chr6:5190200-5192000	Enhancers	NHDF-Ad	bronchial
40	chr6:5190200-5192600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:5190400-5191600	Enhancers	NHEK	skin
42	chr6:5190400-5191800	Enhancers	HUVEC	blood vessel
43	chr6:5190400-5192000	Enhancers	Osteobl	bone
44	chr6:5190400-5192600	Enhancers	Muscle Satellite Cultured Cells	--
45	chr6:5190600-5191600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr6:5190600-5191800	Enhancers	HSMMtube	muscle
47	chr6:5190600-5192800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:5190800-5191400	Enhancers	GM12878-XiMat	blood
49	chr6:5190800-5191600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr6:5190800-5191600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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