Variant report

Variant	rs2069043
Chromosome Location	chr2:178198605-178198606
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:178127258..178130407-chr2:178194593..178198613,8	MCF-7	breast:
2	chr2:178133576..178135485-chr2:178196299..178198924,2	K562	blood:
3	chr2:178197665..178199290-chr2:178590307..178592698,2	K562	blood:
4	chr2:178127949..178131431-chr2:178195364..178200597,7	K562	blood:
5	chr2:178147905..178150215-chr2:178197711..178200128,3	K562	blood:
6	chr2:178077200..178078756-chr2:178196217..178198719,2	K562	blood:
7	chr2:178193614..178195884-chr2:178197245..178198931,2	K562	blood:
8	chr2:178029203..178031622-chr2:178196979..178199645,3	K562	blood:
9	chr2:178130191..178133035-chr2:178195171..178199056,3	K562	blood:
10	chr2:178196424..178198872-chr2:178498721..178501636,2	K562	blood:
11	chr2:178120521..178123745-chr2:178196706..178199533,4	K562	blood:
12	chr2:178076403..178078756-chr2:178195004..178198719,3	K562	blood:
13	chr2:178091030..178093302-chr2:178197862..178200495,2	K562	blood:
14	chr2:178197940..178199479-chr2:178240328..178243409,3	K562	blood:
15	chr2:178128048..178131363-chr2:178195705..178200002,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000265396	Chromatin interaction
ENSG00000116044	Chromatin interaction
ENSG00000263721	Chromatin interaction
ENSG00000229337	Chromatin interaction
ENSG00000236501	Chromatin interaction
ENSG00000222043	Chromatin interaction
ENSG00000170144	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11679800	0.83[EUR][1000 genomes]
rs11688684	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12474344	0.83[EUR][1000 genomes]
rs12476383	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12990594	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13022567	0.83[EUR][1000 genomes]
rs13025552	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13030571	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364732	0.83[EUR][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	nsv3051	chr2:178193436-178239394	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178175200-178203000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:178187600-178216400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:178187800-178210800	Weak transcription	Left Ventricle	heart
4	chr2:178187800-178216400	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:178190600-178202600	Weak transcription	NHDF-Ad	bronchial
6	chr2:178191000-178200400	Weak transcription	Small Intestine	intestine
7	chr2:178191600-178202800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:178192000-178201800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:178192200-178200000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:178193200-178202800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:178194000-178202600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:178195200-178213600	Weak transcription	Gastric	stomach
13	chr2:178195400-178211400	Weak transcription	Fetal Intestine Small	intestine
14	chr2:178197000-178202600	Weak transcription	Osteobl	bone
15	chr2:178197000-178203800	Weak transcription	Brain Anterior Caudate	brain
16	chr2:178197000-178207600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:178197200-178199000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:178197200-178200000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:178197200-178200000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:178197200-178200600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:178197200-178200600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:178197200-178201200	Weak transcription	Fetal Thymus	thymus
23	chr2:178197200-178202600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:178197200-178202600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr2:178197200-178202600	Weak transcription	NHEK	skin
26	chr2:178197200-178202800	Weak transcription	Adipose Nuclei	Adipose
27	chr2:178197200-178202800	Weak transcription	GM12878-XiMat	blood
28	chr2:178197200-178203200	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr2:178197200-178204800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:178197200-178211800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr2:178197200-178211800	Weak transcription	Brain Hippocampus Middle	brain
32	chr2:178197200-178212000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr2:178197200-178213400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:178197200-178215000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:178197200-178216800	Weak transcription	Primary T cells from cord blood	blood
36	chr2:178197200-178217600	Weak transcription	Primary B cells from cord blood	blood
37	chr2:178197600-178199200	Weak transcription	Brain Angular Gyrus	brain
38	chr2:178197600-178200000	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr2:178197600-178200000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr2:178197600-178200600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:178197600-178202000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr2:178197600-178202200	Weak transcription	Stomach Mucosa	stomach
43	chr2:178197600-178202600	Weak transcription	NH-A	brain
44	chr2:178197600-178202800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:178197600-178211200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:178197600-178217200	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr2:178197800-178199000	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr2:178197800-178199200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:178197800-178199200	Strong transcription	K562	blood
50	chr2:178197800-178200000	Weak transcription	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links