Variant report

Variant	rs4585059
Chromosome Location	chr2:191326348-191326349
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:191324546..191326612-chr2:191328587..191331332,2	K562	blood:
2	chr2:191244163..191247100-chr2:191325958..191329938,4	K562	blood:
3	chr2:191322695..191327408-chr2:191328013..191334645,7	K562	blood:
4	chr2:191323309..191325277-chr2:191325283..191326874,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151690	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11683734	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11687958	0.89[CEU][hapmap];1.00[ASN][1000 genomes]
rs11688236	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12105680	1.00[ASN][1000 genomes]
rs16832766	0.88[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17745140	1.00[ASN][1000 genomes]
rs2736620	1.00[ASN][1000 genomes]
rs4146925	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4241290	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4303742	0.88[CEU][hapmap];0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4340551	0.89[CEU][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4434029	0.89[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4468843	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4513326	0.88[CEU][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4536676	0.88[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853511	0.88[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853704	1.00[ASN][1000 genomes]
rs4853706	1.00[ASN][1000 genomes]
rs4853707	0.88[CEU][hapmap];1.00[ASN][1000 genomes]
rs4853715	0.90[AFR][1000 genomes]
rs5004460	0.89[CEU][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55942739	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56101840	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56278738	1.00[ASN][1000 genomes]
rs6434392	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434393	0.90[AFR][1000 genomes]
rs6434398	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707244	0.88[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6728161	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6736474	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744546	1.00[ASN][1000 genomes]
rs6755804	0.89[CEU][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7570284	1.00[ASN][1000 genomes]
rs7586287	1.00[ASN][1000 genomes]
rs7595579	0.89[CEU][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7600297	0.88[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603228	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7605008	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9967833	0.89[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33134	chr2:191318791-191365710	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191302400-191331000	Weak transcription	A549	lung
2	chr2:191303800-191331600	Weak transcription	Brain Germinal Matrix	brain
3	chr2:191303800-191332600	Weak transcription	Fetal Intestine Large	intestine
4	chr2:191306600-191351000	Weak transcription	Pancreas	Pancrea
5	chr2:191308000-191328800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:191308800-191327200	Weak transcription	Right Atrium	heart
7	chr2:191309400-191331400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:191310400-191331600	Weak transcription	Stomach Mucosa	stomach
9	chr2:191311600-191331400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:191311800-191331400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:191311800-191331400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:191311800-191331600	Weak transcription	Ovary	ovary
13	chr2:191312000-191332400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:191313000-191331400	Weak transcription	HSMMtube	muscle
15	chr2:191313000-191333600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:191314000-191331600	Weak transcription	Fetal Kidney	kidney
17	chr2:191315800-191327400	Weak transcription	Spleen	Spleen
18	chr2:191316600-191331200	Weak transcription	NHLF	lung
19	chr2:191317600-191331600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:191319400-191331800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:191319400-191332000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:191320800-191327800	Strong transcription	Primary T cells from cord blood	blood
23	chr2:191322000-191327400	Weak transcription	GM12878-XiMat	blood
24	chr2:191322000-191331600	Weak transcription	Fetal Brain Female	brain
25	chr2:191322000-191335800	Weak transcription	Esophagus	oesophagus
26	chr2:191322200-191331400	Weak transcription	Fetal Stomach	stomach
27	chr2:191322600-191328600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr2:191322600-191335600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:191322800-191327200	Weak transcription	Brain Angular Gyrus	brain
30	chr2:191322800-191329200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr2:191322800-191331200	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr2:191323000-191329000	Weak transcription	Fetal Thymus	thymus
33	chr2:191323000-191329200	Weak transcription	Thymus	Thymus
34	chr2:191323000-191331000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr2:191323000-191334600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:191323200-191330800	Weak transcription	Dnd41	blood
37	chr2:191323200-191332400	Weak transcription	Fetal Intestine Small	intestine
38	chr2:191323200-191335800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:191323400-191333600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr2:191323600-191328800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:191323800-191330800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:191324000-191327200	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr2:191324000-191331400	Weak transcription	Fetal Muscle Leg	muscle
44	chr2:191324600-191326400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr2:191324600-191327800	Enhancers	Brain Hippocampus Middle	brain
46	chr2:191324600-191328000	Enhancers	Brain Substantia Nigra	brain
47	chr2:191324600-191332400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr2:191324800-191327200	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr2:191324800-191327200	Enhancers	K562	blood
50	chr2:191324800-191331200	Weak transcription	Fetal Lung	lung

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