Variant report

Variant	rs61828143
Chromosome Location	chr1:174881895-174881896
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:174865266..174867807-chr1:174881613..174883645,2	K562	blood:

Variant related genes	Relation type
ENSG00000223525	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1002125	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10158096	0.80[ASN][1000 genomes]
rs10489333	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10494493	0.80[ASN][1000 genomes]
rs10912849	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912850	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12063802	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12065854	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12066247	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12068637	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12074821	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12084218	0.85[AFR][1000 genomes]
rs12087196	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12087589	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12090265	0.82[AFR][1000 genomes]
rs12562194	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12565944	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12566477	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16847402	0.82[ASN][1000 genomes]
rs16847450	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16847563	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16847633	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16847706	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2285209	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28660133	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs41266068	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs41266072	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs57366106	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61828064	0.80[ASN][1000 genomes]
rs61828065	0.80[ASN][1000 genomes]
rs61828068	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61828081	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61828087	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61828088	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61828117	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61828121	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61828144	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61828148	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61828149	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61828151	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61828152	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61828156	0.80[EUR][1000 genomes]
rs61828157	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7523516	0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61828143	SERPINC1	cis	Muscle Skeletal	GTEx

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174861400-174902400	Weak transcription	Left Ventricle	heart
2	chr1:174862800-174882400	Weak transcription	Fetal Lung	lung
3	chr1:174863200-174883200	Weak transcription	Small Intestine	intestine
4	chr1:174863800-174883000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:174864200-174882000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:174871800-174882000	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:174872000-174885800	Weak transcription	Pancreas	Pancrea
8	chr1:174872000-174886000	Weak transcription	Gastric	stomach
9	chr1:174872000-174889200	Weak transcription	Primary B cells from cord blood	blood
10	chr1:174872200-174882600	Weak transcription	Stomach Mucosa	stomach
11	chr1:174872400-174888800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:174872800-174900400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:174873400-174897200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:174873600-174882000	Weak transcription	K562	blood
15	chr1:174874000-174910000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:174874200-174885400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:174874200-174885800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:174874200-174938200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:174874800-174882600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:174875400-174885400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:174876400-174882000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:174876800-174882600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:174876800-174933600	Weak transcription	Aorta	Aorta
24	chr1:174877200-174885600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:174877400-174883800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr1:174879200-174882200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr1:174879800-174885400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:174879800-174885400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr1:174880200-174885600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr1:174880800-174882200	Enhancers	GM12878-XiMat	blood
31	chr1:174881000-174882600	Enhancers	Fetal Intestine Large	intestine
32	chr1:174881600-174884400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:174881600-174884400	Enhancers	Fetal Intestine Small	intestine
34	chr1:174881800-174883400	Weak transcription	Fetal Brain Male	brain
35	chr1:174881800-174885400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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