Variant report

Variant	rs73719725
Chromosome Location	chr6:5179428-5179429
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	chr6:5173898..5177005-chr6:5178469..5180479,3	K562	blood:
2	chr6:4365316..4368041-chr6:5177218..5180072,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs55994182	1.00[AMR][1000 genomes]
rs58302900	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60246496	1.00[AMR][1000 genomes]
rs60406859	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72811694	0.95[AFR][1000 genomes]
rs73718016	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718018	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718035	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718059	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5145400-5180800	Weak transcription	Fetal Intestine Small	intestine
2	chr6:5163800-5189600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr6:5170400-5181800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:5173000-5185400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:5173000-5190800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:5173200-5186000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:5173600-5181000	Weak transcription	NHEK	skin
8	chr6:5173800-5179800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr6:5174000-5179800	Enhancers	Fetal Thymus	thymus
10	chr6:5174000-5181000	Weak transcription	Pancreas	Pancrea
11	chr6:5174800-5180600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:5175400-5179800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:5175400-5180600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr6:5175400-5181000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr6:5175600-5179600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr6:5175600-5179600	Weak transcription	HUVEC	blood vessel
17	chr6:5175600-5182000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr6:5175600-5185800	Weak transcription	Fetal Stomach	stomach
19	chr6:5175800-5180000	Weak transcription	Brain Angular Gyrus	brain
20	chr6:5175800-5180000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr6:5175800-5180000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr6:5175800-5180800	Weak transcription	Esophagus	oesophagus
23	chr6:5175800-5193400	Weak transcription	Brain Substantia Nigra	brain
24	chr6:5176200-5180000	Weak transcription	Brain Anterior Caudate	brain
25	chr6:5176200-5180200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr6:5176200-5180400	Weak transcription	Placenta	Placenta
27	chr6:5176200-5181400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr6:5176200-5181400	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr6:5176200-5181800	Weak transcription	Left Ventricle	heart
30	chr6:5176200-5181800	Weak transcription	Spleen	Spleen
31	chr6:5176200-5183800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr6:5176200-5190600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:5176200-5192400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr6:5176200-5201200	Weak transcription	Fetal Muscle Leg	muscle
35	chr6:5176200-5203600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr6:5176200-5239600	Weak transcription	Thymus	Thymus
37	chr6:5177400-5180200	Weak transcription	HepG2	liver
38	chr6:5177600-5179800	Weak transcription	GM12878-XiMat	blood
39	chr6:5177800-5205200	Weak transcription	Aorta	Aorta
40	chr6:5178400-5180600	Enhancers	Primary hematopoietic stem cells	blood
41	chr6:5178400-5190800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:5178600-5180400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:5178800-5179800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr6:5178800-5180600	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr6:5179000-5179600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr6:5179200-5179600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr6:5179200-5207600	Weak transcription	Primary B cells from cord blood	blood
48	chr6:5179400-5180000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr6:5179400-5180600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:5179400-5180800	Enhancers	Primary T cells from cord blood	blood

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