Variant report

Variant	rs73002191
Chromosome Location	chr2:153375636-153375637
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10180234	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10207275	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1545134	0.86[ASN][1000 genomes]
rs16831261	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831265	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2346181	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2459776	0.86[ASN][1000 genomes]
rs2577176	0.87[ASN][1000 genomes]
rs2577180	0.95[ASN][1000 genomes]
rs2577181	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2678294	0.82[AMR][1000 genomes]
rs2678303	0.86[ASN][1000 genomes]
rs2678304	0.86[ASN][1000 genomes]
rs2678305	0.85[ASN][1000 genomes]
rs4664594	0.82[AMR][1000 genomes]
rs56281840	0.82[AMR][1000 genomes]
rs6717982	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6720532	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6721601	0.91[ASN][1000 genomes]
rs6760139	0.86[ASN][1000 genomes]
rs7421149	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7591606	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7595822	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9967814	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153361000-153398600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:153362400-153379400	Weak transcription	Fetal Brain Male	brain
3	chr2:153365000-153377600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:153365400-153377200	Weak transcription	Small Intestine	intestine
5	chr2:153365600-153386000	Weak transcription	Fetal Stomach	stomach
6	chr2:153370800-153375800	Weak transcription	Osteobl	bone
7	chr2:153371000-153375800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:153371000-153379200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:153373000-153380200	Weak transcription	Brain Germinal Matrix	brain
10	chr2:153373800-153375800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:153373800-153376200	Enhancers	NHEK	skin
12	chr2:153373800-153376400	Enhancers	Brain Angular Gyrus	brain
13	chr2:153373800-153377600	Enhancers	Fetal Intestine Small	intestine
14	chr2:153374200-153376000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:153374200-153376000	Enhancers	Duodenum Mucosa	Duodenum
16	chr2:153374200-153376000	Enhancers	Fetal Intestine Large	intestine
17	chr2:153374200-153376200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:153374400-153376000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:153374400-153376600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr2:153374400-153381200	Weak transcription	Gastric	stomach
21	chr2:153374600-153376000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:153374600-153378400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:153374600-153385000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:153374800-153376000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:153374800-153376000	Enhancers	Stomach Mucosa	stomach
26	chr2:153375000-153375800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:153375000-153376000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:153375000-153376200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr2:153375000-153376200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr2:153375000-153376200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr2:153375000-153381600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr2:153375200-153376000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:153375200-153376000	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr2:153375200-153376000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:153375200-153376000	Enhancers	Fetal Lung	lung
36	chr2:153375200-153376000	Enhancers	Fetal Muscle Leg	muscle
37	chr2:153375200-153376000	Enhancers	Fetal Thymus	thymus
38	chr2:153375200-153376000	Enhancers	Lung	lung
39	chr2:153375200-153376000	Enhancers	Pancreas	Pancrea
40	chr2:153375200-153376000	Enhancers	Psoas Muscle	Psoas
41	chr2:153375200-153376000	Enhancers	Right Atrium	heart
42	chr2:153375200-153376200	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr2:153375200-153376200	Enhancers	Rectal Smooth Muscle	rectum
44	chr2:153375200-153376400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:153375200-153377400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:153375400-153376200	Active TSS	Stomach Smooth Muscle	stomach
47	chr2:153375400-153376200	Enhancers	NH-A	brain
48	chr2:153375400-153376400	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr2:153375400-153377200	Weak transcription	A549	lung
50	chr2:153375400-153377200	Weak transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links