Variant report

Variant	rs7592101
Chromosome Location	chr2:97579507-97579508
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97523464..97526230-chr2:97576942..97579887,2	K562	blood:
2	chr2:97578731..97580640-chr2:97587968..97590333,2	MCF-7	breast:
3	chr2:97568349..97571105-chr2:97578253..97580296,2	K562	blood:
4	chr2:97480397..97482744-chr2:97578955..97580735,2	K562	blood:

Variant related genes	Relation type
ENSG00000168763	Chromatin interaction
ENSG00000163126	Chromatin interaction
ENSG00000213337	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10191663	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11888101	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1320147	0.86[CEU][hapmap];0.92[GIH][hapmap]
rs13403225	0.86[CEU][hapmap];0.92[GIH][hapmap]
rs13407036	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17119655	0.93[CEU][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.93[EUR][1000 genomes]
rs17119656	0.93[CEU][hapmap];0.94[EUR][1000 genomes]
rs2314651	0.86[EUR][1000 genomes]
rs28612110	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4260285	0.92[EUR][1000 genomes]
rs58984980	0.91[EUR][1000 genomes]
rs59131346	0.92[EUR][1000 genomes]
rs59660613	0.93[EUR][1000 genomes]
rs62152901	0.92[EUR][1000 genomes]
rs62152903	0.91[EUR][1000 genomes]
rs62152904	0.93[EUR][1000 genomes]
rs62152905	0.92[EUR][1000 genomes]
rs62152906	0.92[EUR][1000 genomes]
rs62152907	0.93[EUR][1000 genomes]
rs62152908	0.93[EUR][1000 genomes]
rs62152910	0.93[EUR][1000 genomes]
rs6576990	0.93[CEU][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.94[EUR][1000 genomes]
rs6717064	0.93[CEU][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes]
rs6718420	0.93[EUR][1000 genomes]
rs6721921	0.93[CEU][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.92[EUR][1000 genomes]
rs6734673	0.93[CEU][hapmap];0.93[EUR][1000 genomes]
rs6751815	0.89[EUR][1000 genomes]
rs72811651	0.92[EUR][1000 genomes]
rs7572852	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7574488	0.85[CEU][hapmap]
rs7589232	0.93[CEU][hapmap];0.82[MEX][hapmap];0.84[TSI][hapmap];0.92[EUR][1000 genomes]
rs7591775	0.93[CEU][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7594227	0.84[GIH][hapmap];0.82[MEX][hapmap]
rs7603256	0.83[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];0.88[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv582497	chr2:97569305-97715154	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
11	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7592101	FAM178B	cis	Artery Tibial	GTEx
rs7592101	FAM178B	cis	Esophagus Muscularis	GTEx

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97574000-97582000	Weak transcription	Colonic Mucosa	Colon
2	chr2:97575600-97581600	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:97575800-97581800	Weak transcription	Right Atrium	heart
4	chr2:97576000-97581600	Weak transcription	Brain Substantia Nigra	brain
5	chr2:97576800-97580600	Enhancers	Left Ventricle	heart
6	chr2:97577000-97580600	Enhancers	Right Ventricle	heart
7	chr2:97577200-97580200	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr2:97577200-97589600	Weak transcription	Fetal Heart	heart
9	chr2:97577400-97580600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:97577600-97579600	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr2:97577600-97580200	Enhancers	Spleen	Spleen
12	chr2:97577600-97580600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr2:97577800-97580600	Enhancers	Adipose Nuclei	Adipose
14	chr2:97578000-97579600	Active TSS	Brain Anterior Caudate	brain
15	chr2:97578000-97579800	Active TSS	Brain Angular Gyrus	brain
16	chr2:97578000-97580400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr2:97578000-97580400	Enhancers	Lung	lung
18	chr2:97578200-97579800	Enhancers	Esophagus	oesophagus
19	chr2:97578200-97580200	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr2:97578200-97580200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:97578200-97580400	Enhancers	Primary hematopoietic stem cells	blood
22	chr2:97578200-97582000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:97578400-97580000	Bivalent Enhancer	HepG2	liver
24	chr2:97578400-97580200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:97578400-97580200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr2:97578400-97580400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:97578600-97579600	Enhancers	Stomach Smooth Muscle	stomach
28	chr2:97578600-97579800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:97578600-97580000	Enhancers	Placenta	Placenta
30	chr2:97578600-97580200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr2:97578600-97580200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:97578600-97580200	Enhancers	Brain Hippocampus Middle	brain
33	chr2:97578600-97580400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:97578600-97580400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr2:97578600-97580600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr2:97578600-97580600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:97578600-97580800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr2:97578600-97580800	Enhancers	Thymus	Thymus
39	chr2:97578600-97581800	Weak transcription	Fetal Brain Female	brain
40	chr2:97578600-97582000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr2:97578600-97582000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:97578800-97579600	Enhancers	Primary B cells from peripheral blood	blood
43	chr2:97578800-97579600	Bivalent Enhancer	Fetal Stomach	stomach
44	chr2:97578800-97580000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr2:97578800-97580400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr2:97578800-97580600	Enhancers	Duodenum Mucosa	Duodenum
47	chr2:97579000-97579600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
48	chr2:97579000-97579800	Enhancers	Placenta Amnion	Placenta Amnion
49	chr2:97579000-97580000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:97579000-97580000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links