Variant report

Variant	rs73976177
Chromosome Location	chr2:172347380-172347381
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR3C1	chr2:172347186-172347419	A549	lung:	n/a	n/a
2	NR3C1	chr2:172347185-172347441	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172344598..172348821-chr2:172376554..172380965,4	K562	blood:
2	chr2:172288873..172291205-chr2:172345298..172347425,2	K562	blood:

Variant related genes	Relation type
DAP3P2	TF binding region
ENSG00000234061	TF binding region
ENSG00000115827	Chromatin interaction
ENSG00000123600	Chromatin interaction
ENSG00000071967	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10177689	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10186304	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10192493	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10195990	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10198915	0.91[AMR][1000 genomes]
rs10202883	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10210332	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13386613	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13388963	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13395084	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13396824	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13402901	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13414723	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13420838	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28608023	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28663293	0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4566333	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58367130	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58808521	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59235233	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59318451	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59449823	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59599047	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60523677	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62181354	0.80[ASN][1000 genomes]
rs6712098	0.96[ASN][1000 genomes]
rs73976149	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73976150	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73976153	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73976158	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7580497	0.80[ASN][1000 genomes]
rs9973419	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9973709	0.81[EUR][1000 genomes];0.80[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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172306000-172348000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:172309600-172348400	Weak transcription	Fetal Heart	heart
3	chr2:172327200-172348800	Weak transcription	Spleen	Spleen
4	chr2:172327400-172347600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:172333400-172347800	Weak transcription	Brain Angular Gyrus	brain
6	chr2:172334600-172349200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:172334800-172349200	Weak transcription	Esophagus	oesophagus
8	chr2:172335400-172349000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:172337800-172348000	Weak transcription	Brain Substantia Nigra	brain
10	chr2:172338000-172349400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:172338400-172349800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:172339600-172347800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:172339600-172348000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr2:172339800-172348000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:172339800-172350600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr2:172339800-172352200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:172340000-172347800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:172340000-172348000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:172340000-172348000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:172340000-172348000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:172340000-172348600	Weak transcription	Ovary	ovary
22	chr2:172340000-172351200	Weak transcription	Aorta	Aorta
23	chr2:172340000-172368400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:172340400-172348000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:172341000-172348000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:172342200-172348200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:172342200-172348600	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr2:172344800-172348600	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr2:172345400-172348200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:172345800-172348000	Weak transcription	Dnd41	blood
31	chr2:172346000-172353000	Weak transcription	Primary T cells from cord blood	blood
32	chr2:172346200-172348800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:172346800-172347400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:172346800-172347400	Enhancers	Hela-S3	cervix
35	chr2:172346800-172347600	Enhancers	NHEK	skin
36	chr2:172346800-172348400	Enhancers	Colonic Mucosa	Colon
37	chr2:172347200-172347400	Enhancers	Liver	Liver
38	chr2:172347200-172347400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr2:172347200-172348000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:172347200-172348200	Weak transcription	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links