Variant report

Variant	rs73033228
Chromosome Location	chr2:174064541-174064542
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	chr2:174063090..174066387-chr2:174067458..174070599,4	K562	blood:
2	chr2:174064115..174068320-chr2:174070790..174075190,5	K562	blood:

Variant related genes	Relation type
ENSG00000238133	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11888193	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11901996	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs35853276	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57244347	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6433398	0.85[AFR][1000 genomes]
rs6725795	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73016810	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73023632	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73971697	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73974103	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9941608	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174026000-174069000	Weak transcription	Primary B cells from cord blood	blood
2	chr2:174026600-174083200	Weak transcription	Esophagus	oesophagus
3	chr2:174046400-174075800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr2:174047800-174065800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:174048600-174095200	Weak transcription	Thymus	Thymus
6	chr2:174049000-174070600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr2:174049200-174070200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:174049200-174083200	Weak transcription	Small Intestine	intestine
9	chr2:174049400-174078200	Weak transcription	HUVEC	blood vessel
10	chr2:174049600-174074400	Weak transcription	Fetal Stomach	stomach
11	chr2:174049600-174079800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:174051600-174065200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:174053000-174065400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:174053400-174072000	Weak transcription	Right Atrium	heart
15	chr2:174053400-174075600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:174053400-174078400	Weak transcription	Gastric	stomach
17	chr2:174053400-174082000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:174053400-174089800	Weak transcription	Pancreas	Pancrea
19	chr2:174055000-174065000	Weak transcription	Primary T cells from cord blood	blood
20	chr2:174055400-174064800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr2:174056600-174065600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:174057400-174075800	Weak transcription	Hela-S3	cervix
23	chr2:174058000-174112800	Weak transcription	Spleen	Spleen
24	chr2:174059000-174075000	Weak transcription	NHLF	lung
25	chr2:174060000-174075200	Weak transcription	Fetal Kidney	kidney
26	chr2:174060200-174092600	Weak transcription	Aorta	Aorta
27	chr2:174060400-174064800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:174060600-174066600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:174060800-174065400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:174061000-174065800	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr2:174061000-174082000	Weak transcription	Fetal Brain Female	brain
32	chr2:174061200-174097600	Weak transcription	Lung	lung
33	chr2:174061400-174065400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:174061400-174092200	Weak transcription	Brain Substantia Nigra	brain
35	chr2:174061600-174070200	Weak transcription	Brain Germinal Matrix	brain
36	chr2:174061600-174074600	Weak transcription	Fetal Intestine Small	intestine
37	chr2:174061600-174077000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr2:174061600-174083200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:174061600-174083200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:174061800-174072600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr2:174061800-174075200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:174061800-174080200	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr2:174062000-174071600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:174062200-174065200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr2:174062600-174069400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:174062800-174064600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:174062800-174064600	Strong transcription	Primary hematopoietic stem cells	blood
48	chr2:174062800-174065000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:174062800-174065000	Strong transcription	HMEC	breast
50	chr2:174063000-174065600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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