Variant report

Variant	rs4622022
Chromosome Location	chr1:176014340-176014341
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:176007125..176010101-chr1:176013054..176015518,2	K562	blood:
2	chr1:176013463..176015137-chr1:176022558..176024430,2	K562	blood:
3	chr1:176012549..176014630-chr1:176018952..176021858,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10753116	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10798426	1.00[EUR][1000 genomes]
rs10913130	1.00[EUR][1000 genomes]
rs2177205	1.00[EUR][1000 genomes]
rs2481638	1.00[EUR][1000 genomes]
rs2481645	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2481654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2502846	1.00[EUR][1000 genomes]
rs3979615	1.00[EUR][1000 genomes]
rs4361950	1.00[EUR][1000 genomes]
rs4471223	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4631649	1.00[EUR][1000 genomes]
rs4650931	1.00[EUR][1000 genomes]
rs539723	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs6657175	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6662293	1.00[EUR][1000 genomes]
rs6693536	1.00[EUR][1000 genomes]
rs7551432	1.00[EUR][1000 genomes]
rs812066	1.00[EUR][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	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv872561	chr1:175949646-176092167	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv872562	chr1:175949646-176141866	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175957800-176022000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr1:175975800-176016200	Weak transcription	HSMMtube	muscle
3	chr1:175976400-176014400	Weak transcription	Brain Angular Gyrus	brain
4	chr1:175976800-176046000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:175978200-176050600	Weak transcription	Aorta	Aorta
6	chr1:175978400-176014800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:175978400-176017800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr1:175978400-176069000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr1:175979600-176045400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:175979800-176014400	Weak transcription	Brain Substantia Nigra	brain
11	chr1:175980200-176028000	Weak transcription	K562	blood
12	chr1:175989800-176036400	Weak transcription	Pancreas	Pancrea
13	chr1:175994200-176065200	Weak transcription	Psoas Muscle	Psoas
14	chr1:175999000-176017000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr1:176000600-176014800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:176001800-176016200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:176003600-176014600	Weak transcription	NH-A	brain
18	chr1:176003600-176016200	Weak transcription	HMEC	breast
19	chr1:176003800-176021400	Weak transcription	Osteobl	bone
20	chr1:176004000-176018200	Weak transcription	Hela-S3	cervix
21	chr1:176004000-176021200	Weak transcription	A549	lung
22	chr1:176004000-176026400	Weak transcription	Small Intestine	intestine
23	chr1:176004000-176036400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:176004200-176016000	Weak transcription	NHEK	skin
25	chr1:176004200-176039800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:176005400-176015400	Strong transcription	Dnd41	blood
27	chr1:176005600-176015400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:176005600-176015400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:176006000-176045200	Weak transcription	GM12878-XiMat	blood
30	chr1:176006200-176049000	Weak transcription	HSMM	muscle
31	chr1:176006800-176014400	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr1:176007200-176015400	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr1:176007400-176015000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:176007600-176020200	Weak transcription	Fetal Heart	heart
35	chr1:176007800-176020400	Weak transcription	Fetal Brain Female	brain
36	chr1:176007800-176066400	Weak transcription	Fetal Brain Male	brain
37	chr1:176008200-176014400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:176008200-176019000	Weak transcription	Fetal Kidney	kidney
39	chr1:176008200-176019000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr1:176009600-176014400	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr1:176009800-176014400	Strong transcription	Primary B cells from peripheral blood	blood
42	chr1:176009800-176016800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:176010200-176048000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr1:176010400-176016000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:176010400-176019200	Weak transcription	NHDF-Ad	bronchial
46	chr1:176010400-176066000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr1:176010800-176018400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr1:176011400-176014400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:176012000-176018600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr1:176012200-176015400	Strong transcription	Primary B cells from cord blood	blood

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