Variant report

Variant	rs71555880
Chromosome Location	chr6:5173986-5173987
allele	A/G
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:

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs13191522	1.00[AMR][1000 genomes]
rs13197072	1.00[AMR][1000 genomes]
rs13199874	1.00[AMR][1000 genomes]
rs13209775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13213175	1.00[AMR][1000 genomes]
rs13219725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34148454	1.00[AMR][1000 genomes]
rs34287447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34347613	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34519114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34519637	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34538064	1.00[AMR][1000 genomes]
rs34774856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35100403	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35237000	1.00[AMR][1000 genomes]
rs35238319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35247793	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35532313	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35608724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36003115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71540851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71540854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71555881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71555884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71557548	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71557555	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71557557	1.00[AMR][1000 genomes]
rs9392660	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9392661	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5144000-5175400	Weak transcription	HepG2	liver
2	chr6:5145400-5180800	Weak transcription	Fetal Intestine Small	intestine
3	chr6:5153200-5178200	Weak transcription	HMEC	breast
4	chr6:5158600-5174000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr6:5159800-5174000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:5163800-5177600	Weak transcription	Aorta	Aorta
7	chr6:5163800-5189600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr6:5164600-5174000	Weak transcription	Brain Substantia Nigra	brain
9	chr6:5170400-5181800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:5171000-5174400	Enhancers	Fetal Kidney	kidney
11	chr6:5172200-5174000	Enhancers	Primary T cells from cord blood	blood
12	chr6:5172200-5174400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:5172200-5176200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:5172400-5175800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:5172800-5174000	Weak transcription	Fetal Thymus	thymus
16	chr6:5172800-5174200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr6:5173000-5174200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:5173000-5174200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr6:5173000-5174200	Weak transcription	Brain Germinal Matrix	brain
20	chr6:5173000-5175000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr6:5173000-5175000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr6:5173000-5185400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:5173000-5190800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:5173200-5186000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr6:5173400-5174000	Enhancers	GM12878-XiMat	blood
26	chr6:5173400-5174200	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr6:5173400-5174200	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr6:5173400-5174200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr6:5173400-5174400	Enhancers	Fetal Lung	lung
30	chr6:5173400-5174400	Enhancers	Thymus	Thymus
31	chr6:5173600-5175400	Weak transcription	Fetal Muscle Leg	muscle
32	chr6:5173600-5181000	Weak transcription	NHEK	skin
33	chr6:5173800-5174000	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr6:5173800-5174000	Enhancers	Brain Cingulate Gyrus	brain
35	chr6:5173800-5174200	Enhancers	Primary B cells from cord blood	blood
36	chr6:5173800-5174200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:5173800-5174200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr6:5173800-5174400	Enhancers	Primary hematopoietic stem cells	blood
39	chr6:5173800-5179800	Enhancers	Primary T helper cells fromperipheralblood	blood

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