Variant report

Variant	rs420099
Chromosome Location	chr6:149794290-149794291
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:149792520..149794344-chr6:149794518..149797030,2	K562	blood:
2	chr6:149637666..149639444-chr6:149793847..149796038,2	K562	blood:

Variant related genes	Relation type
ENSG00000055208	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs237009	0.86[ASN][1000 genomes]
rs237010	0.86[ASN][1000 genomes]
rs372238	0.90[ASN][1000 genomes]
rs384334	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs394563	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs399673	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs409099	0.84[ASN][1000 genomes]
rs409111	0.84[ASN][1000 genomes]
rs412894	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs415434	0.86[ASN][1000 genomes]
rs420430	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs421453	0.81[ASN][1000 genomes]
rs438852	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs444784	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs447025	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs448420	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs448874	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs480870	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs548848	0.84[EUR][1000 genomes];0.90[ASN][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	nsv530444	chr6:149654540-149848997	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv470866	chr6:149744632-149806552	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv464076	chr6:149755695-149798835	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv604846	chr6:149755695-149798835	ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1832313	chr6:149789511-149840750	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149776800-149802000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:149782200-149802000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:149783200-149802400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:149785800-149794600	Weak transcription	Gastric	stomach
5	chr6:149785800-149794800	Weak transcription	Right Atrium	heart
6	chr6:149788200-149795200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:149788400-149794600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:149789000-149794400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr6:149789400-149806000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:149789600-149798400	Genic enhancers	Primary T cells fromperipheralblood	blood
11	chr6:149789800-149795200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr6:149790000-149796000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
13	chr6:149790200-149802000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr6:149790400-149794400	Genic enhancers	Primary B cells from peripheral blood	blood
15	chr6:149790400-149795000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr6:149790400-149802200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr6:149790600-149795600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr6:149790800-149795600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr6:149791000-149794600	Weak transcription	Lung	lung
20	chr6:149791000-149799000	Genic enhancers	Primary B cells from cord blood	blood
21	chr6:149792000-149796400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr6:149792000-149800200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:149792400-149795200	Flanking Active TSS	GM12878-XiMat	blood
24	chr6:149792600-149795400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:149792600-149803000	Weak transcription	Fetal Brain Female	brain
26	chr6:149792800-149796200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
27	chr6:149792800-149797000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
28	chr6:149793200-149794400	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr6:149793200-149801800	Weak transcription	Thymus	Thymus
30	chr6:149793400-149795000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr6:149793400-149795400	Enhancers	Primary T cells from cord blood	blood
32	chr6:149793400-149795400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr6:149793400-149796600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
34	chr6:149793600-149795000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr6:149793800-149795400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr6:149794000-149795000	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr6:149794000-149795200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:149794000-149796000	Enhancers	Fetal Thymus	thymus
39	chr6:149794200-149794400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr6:149794200-149794400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:149794200-149794400	Enhancers	A549	lung
42	chr6:149794200-149794400	Bivalent Enhancer	NHEK	skin
43	chr6:149794200-149794600	Active TSS	Colonic Mucosa	Colon
44	chr6:149794200-149794600	Flanking Active TSS	Fetal Intestine Small	intestine
45	chr6:149794200-149794600	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr6:149794200-149794600	Flanking Active TSS	Stomach Mucosa	stomach
47	chr6:149794200-149794800	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr6:149794200-149794800	Flanking Active TSS	Fetal Intestine Large	intestine
49	chr6:149794200-149794800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
50	chr6:149794200-149794800	Bivalent Enhancer	HUVEC	blood vessel

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