Variant report

Variant	rs6812917
Chromosome Location	chr4:110358521-110358522
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:110354930..110357629-chr4:110358117..110363177,4	K562	blood:
2	chr4:110354726..110357956-chr4:110358285..110360702,4	MCF-7	breast:
3	chr4:110356991..110360455-chr4:110735478..110738765,3	K562	blood:

Variant related genes	Relation type
ENSG00000247950	Chromatin interaction
ENSG00000109534	Chromatin interaction
ENSG00000138802	Chromatin interaction
ENSG00000272795	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10003981	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10005225	1.00[EUR][1000 genomes]
rs10008457	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10009463	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10011971	1.00[EUR][1000 genomes]
rs10016533	0.86[AFR][1000 genomes]
rs10020652	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10030694	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17040433	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17040466	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17040498	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28412073	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28460762	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28541279	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28595287	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28597954	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28663368	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28680423	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28723468	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28829974	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57705376	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6533431	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6533432	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6834714	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6837083	1.00[EUR][1000 genomes]
rs6838597	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6840561	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6852062	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6854516	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72898791	1.00[EUR][1000 genomes]
rs7665738	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7667502	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7674196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7677736	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7681265	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7685647	1.00[EUR][1000 genomes]
rs7697001	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9997563	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	esv1836921	chr4:110354632-110370867	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv1839822	chr4:110354632-110370867	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110356200-110360000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr4:110356400-110360600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr4:110356400-110361400	Enhancers	Primary T cells fromperipheralblood	blood
4	chr4:110356400-110366200	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr4:110356600-110358600	Enhancers	K562	blood
6	chr4:110356600-110360600	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr4:110356600-110360800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr4:110356600-110364400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr4:110356800-110358600	Enhancers	Small Intestine	intestine
10	chr4:110356800-110358800	Enhancers	Spleen	Spleen
11	chr4:110356800-110359000	Enhancers	Pancreas	Pancrea
12	chr4:110356800-110366000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:110357000-110359000	Enhancers	Lung	lung
14	chr4:110357000-110360600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr4:110357000-110360800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr4:110357000-110361600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr4:110357000-110362200	Weak transcription	Aorta	Aorta
18	chr4:110357200-110358600	Enhancers	Adipose Nuclei	Adipose
19	chr4:110357200-110359800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr4:110357200-110360200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr4:110357200-110360800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr4:110357200-110362000	Weak transcription	HSMMtube	muscle
23	chr4:110357200-110362200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr4:110357200-110363000	Weak transcription	A549	lung
25	chr4:110357200-110363000	Weak transcription	NH-A	brain
26	chr4:110357200-110366000	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr4:110357400-110358600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr4:110357400-110358600	Enhancers	Primary T cells from cord blood	blood
29	chr4:110357400-110358600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:110357400-110358600	Weak transcription	Left Ventricle	heart
31	chr4:110357400-110358600	Enhancers	HepG2	liver
32	chr4:110357400-110358800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:110357400-110359000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:110357400-110359800	Weak transcription	Primary B cells from cord blood	blood
35	chr4:110357400-110359800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:110357400-110360000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:110357400-110360000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:110357400-110360200	Enhancers	Fetal Thymus	thymus
39	chr4:110357400-110360200	Enhancers	Thymus	Thymus
40	chr4:110357400-110361200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr4:110357400-110361600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr4:110357400-110361800	Weak transcription	HSMM	muscle
43	chr4:110357400-110362000	Weak transcription	Brain Substantia Nigra	brain
44	chr4:110357400-110362200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr4:110357400-110362200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:110357400-110362200	Weak transcription	Gastric	stomach
47	chr4:110357400-110362600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:110357400-110362800	Weak transcription	NHLF	lung
49	chr4:110357400-110363200	Weak transcription	NHDF-Ad	bronchial
50	chr4:110357400-110364400	Weak transcription	Monocytes-CD14+_RO01746	blood

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