Variant report

Variant	rs73971702
Chromosome Location	chr2:174064875-174064876
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:174063090..174066387-chr2:174067458..174070599,4	K562	blood:
2	chr2:174064115..174068320-chr2:174070790..174075190,5	K562	blood:
3	chr2:174059743..174062229-chr2:174064774..174066981,2	K562	blood:

Variant related genes	Relation type
ENSG00000238133	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12465665	0.81[EUR][1000 genomes]
rs16861295	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16861304	0.97[ASN][1000 genomes]
rs16861323	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2119124	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2289395	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3769155	0.99[ASN][1000 genomes]
rs3769164	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3769166	0.99[ASN][1000 genomes]
rs3769175	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769176	0.94[ASN][1000 genomes]
rs3769179	0.96[ASN][1000 genomes]
rs3769183	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58407376	1.00[ASN][1000 genomes]
rs59935415	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs61183795	0.96[ASN][1000 genomes]
rs6717067	0.99[ASN][1000 genomes]
rs6753354	1.00[ASN][1000 genomes]
rs7566222	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7571788	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][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:92 , 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	chr2:174056600-174065600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:174057400-174075800	Weak transcription	Hela-S3	cervix
22	chr2:174058000-174112800	Weak transcription	Spleen	Spleen
23	chr2:174059000-174075000	Weak transcription	NHLF	lung
24	chr2:174060000-174075200	Weak transcription	Fetal Kidney	kidney
25	chr2:174060200-174092600	Weak transcription	Aorta	Aorta
26	chr2:174060600-174066600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr2:174060800-174065400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:174061000-174065800	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr2:174061000-174082000	Weak transcription	Fetal Brain Female	brain
30	chr2:174061200-174097600	Weak transcription	Lung	lung
31	chr2:174061400-174065400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:174061400-174092200	Weak transcription	Brain Substantia Nigra	brain
33	chr2:174061600-174070200	Weak transcription	Brain Germinal Matrix	brain
34	chr2:174061600-174074600	Weak transcription	Fetal Intestine Small	intestine
35	chr2:174061600-174077000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr2:174061600-174083200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:174061600-174083200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:174061800-174072600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:174061800-174075200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr2:174061800-174080200	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr2:174062000-174071600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:174062200-174065200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr2:174062600-174069400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:174062800-174065000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:174062800-174065000	Strong transcription	HMEC	breast
46	chr2:174063000-174065600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:174063200-174074400	Weak transcription	Psoas Muscle	Psoas
48	chr2:174063600-174065000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:174063600-174065800	Weak transcription	Primary B cells from peripheral blood	blood
50	chr2:174063600-174067400	Weak transcription	Ovary	ovary

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