Variant report

Variant	rs6674100
Chromosome Location	chr1:47910113-47910114
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:47909689..47914443-chr1:47914601..47918861,5	K562	blood:
2	chr1:47909602..47912152-chr1:48180599..48183294,2	K562	blood:
3	chr1:47909602..47912589-chr1:48194233..48196789,2	K562	blood:
4	chr1:47643392..47645618-chr1:47908506..47910318,2	K562	blood:

Variant related genes	Relation type
ENSG00000224805	Chromatin interaction
ENSG00000225506	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10789508	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10890481	0.86[ASN][1000 genomes]
rs12035995	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12036198	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12046016	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12404237	0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17103251	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17103253	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3814005	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4926858	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4926865	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4926870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4926871	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs533894	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6665045	0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6673789	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6689636	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6697911	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72902514	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs870357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871961	chr1:47875627-47912628	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2755190	chr1:47907580-48048680	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47907600-47918400	Weak transcription	Aorta	Aorta
2	chr1:47908800-47911200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
3	chr1:47909000-47910200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr1:47909000-47910400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:47909000-47910600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:47909000-47911200	Bivalent/Poised TSS	Fetal Kidney	kidney
7	chr1:47909000-47912000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:47909200-47910200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:47909200-47910200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:47909200-47910200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:47909200-47910400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
12	chr1:47909200-47910400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
13	chr1:47909200-47910400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:47909200-47910400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
15	chr1:47909200-47910600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
16	chr1:47909200-47910600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
17	chr1:47909200-47911000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr1:47909400-47910200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr1:47909400-47910200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
20	chr1:47909400-47910200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr1:47909400-47910200	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr1:47909400-47910400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:47909400-47910400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
24	chr1:47909400-47910400	Bivalent Enhancer	Fetal Heart	heart
25	chr1:47909400-47910600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:47909400-47910600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:47909400-47910600	Bivalent Enhancer	Fetal Thymus	thymus
28	chr1:47909400-47910800	Enhancers	Lung	lung
29	chr1:47909400-47911400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
30	chr1:47909600-47910200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
31	chr1:47909600-47910800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
32	chr1:47909600-47911800	Bivalent/Poised TSS	Colonic Mucosa	Colon
33	chr1:47909800-47910200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
34	chr1:47909800-47910200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
35	chr1:47909800-47910200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
36	chr1:47909800-47910200	Bivalent Enhancer	Brain Hippocampus Middle	brain
37	chr1:47909800-47910400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:47909800-47910400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:47909800-47910400	Bivalent Enhancer	Brain Germinal Matrix	brain
40	chr1:47909800-47910400	Bivalent Enhancer	Fetal Intestine Large	intestine
41	chr1:47909800-47910600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:47909800-47910600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
43	chr1:47909800-47910800	Bivalent/Poised TSS	Small Intestine	intestine
44	chr1:47909800-47911200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
45	chr1:47909800-47911200	Bivalent Enhancer	Placenta	Placenta
46	chr1:47909800-47911400	Bivalent Enhancer	Fetal Brain Male	brain
47	chr1:47910000-47910200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr1:47910000-47910200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
49	chr1:47910000-47910200	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
50	chr1:47910000-47910200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell

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