Variant report

Variant	rs61826815
Chromosome Location	chr1:173694408-173694409
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173687895..173689585-chr1:173692482..173695234,2	MCF-7	breast:
2	chr1:173693597..173695637-chr1:173710759..173712908,2	MCF-7	breast:
3	chr1:173684000..173686822-chr1:173693037..173695144,2	K562	blood:

Variant related genes	Relation type
ENSG00000225591	Chromatin interaction
ENSG00000076321	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs12060191	0.86[ASN][1000 genomes]
rs12063818	0.86[ASN][1000 genomes]
rs12561796	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12563156	0.85[ASN][1000 genomes]
rs1322776	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1322778	0.86[ASN][1000 genomes]
rs1322779	0.86[ASN][1000 genomes]
rs2227588	0.83[ASN][1000 genomes]
rs2227590	0.85[ASN][1000 genomes]
rs2227593	0.85[ASN][1000 genomes]
rs2227594	0.85[ASN][1000 genomes]
rs2227595	0.85[ASN][1000 genomes]
rs2227596	0.85[ASN][1000 genomes]
rs2227597	0.85[ASN][1000 genomes]
rs2227601	0.84[ASN][1000 genomes]
rs2227612	0.85[ASN][1000 genomes]
rs2295958	0.85[ASN][1000 genomes]
rs4652283	0.86[ASN][1000 genomes]
rs4652298	0.86[ASN][1000 genomes]
rs4652328	0.86[ASN][1000 genomes]
rs57995528	0.86[ASN][1000 genomes]
rs60265316	0.86[ASN][1000 genomes]
rs61826793	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61826814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61826817	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61826818	1.00[AFR][1000 genomes]
rs61827862	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61827928	0.86[ASN][1000 genomes]
rs61827930	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61827932	0.86[ASN][1000 genomes]
rs61827933	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61827934	0.86[ASN][1000 genomes]
rs61827935	0.86[ASN][1000 genomes]
rs61827936	0.85[ASN][1000 genomes]
rs61827938	0.85[ASN][1000 genomes]
rs61827956	0.84[ASN][1000 genomes]
rs61828917	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6695940	0.84[ASN][1000 genomes]
rs677	0.85[ASN][1000 genomes]
rs73039035	0.85[ASN][1000 genomes]
rs9286896	0.84[ASN][1000 genomes]
rs9425431	0.86[ASN][1000 genomes]
rs9425433	0.86[ASN][1000 genomes]
rs9425434	0.86[ASN][1000 genomes]
rs9425436	0.83[ASN][1000 genomes]
rs9425762	0.86[ASN][1000 genomes]
rs9425772	0.84[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	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv3598	chr1:173693027-173738687	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61826815	SERPINC1	cis	Muscle Skeletal	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173684800-173695000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:173684800-173702800	Weak transcription	Spleen	Spleen
3	chr1:173685000-173695200	Weak transcription	Esophagus	oesophagus
4	chr1:173685000-173695200	Weak transcription	Pancreas	Pancrea
5	chr1:173685000-173720800	Weak transcription	Small Intestine	intestine
6	chr1:173685200-173694600	Weak transcription	Colonic Mucosa	Colon
7	chr1:173685200-173724600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:173685400-173702800	Weak transcription	Psoas Muscle	Psoas
9	chr1:173685400-173725000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:173685600-173694600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:173685600-173702800	Weak transcription	Brain Substantia Nigra	brain
12	chr1:173685800-173702800	Weak transcription	NH-A	brain
13	chr1:173685800-173703000	Weak transcription	Osteobl	bone
14	chr1:173685800-173724800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:173686200-173702800	Weak transcription	NHEK	skin
16	chr1:173686600-173702800	Weak transcription	HSMMtube	muscle
17	chr1:173686800-173702800	Weak transcription	Gastric	stomach
18	chr1:173686800-173703000	Weak transcription	Brain Angular Gyrus	brain
19	chr1:173686800-173721600	Weak transcription	HUVEC	blood vessel
20	chr1:173686800-173721800	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:173686800-173725400	Weak transcription	Right Ventricle	heart
22	chr1:173687000-173702800	Weak transcription	HepG2	liver
23	chr1:173687600-173706600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr1:173687800-173694800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:173687800-173702200	Weak transcription	Lung	lung
26	chr1:173687800-173707200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:173689800-173695800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr1:173689800-173695800	ZNF genes & repeats	Brain Germinal Matrix	brain
29	chr1:173690600-173695600	ZNF genes & repeats	Fetal Brain Female	brain
30	chr1:173690600-173696200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:173690600-173696400	Strong transcription	Liver	Liver
32	chr1:173690800-173694800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:173691200-173710000	Weak transcription	Hela-S3	cervix
34	chr1:173692200-173695800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:173692200-173696000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:173692200-173697000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
37	chr1:173692400-173695000	Strong transcription	Fetal Thymus	thymus
38	chr1:173692600-173695800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chr1:173692600-173696000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:173692800-173695000	ZNF genes & repeats	K562	blood
41	chr1:173692800-173696600	ZNF genes & repeats	Fetal Muscle Leg	muscle
42	chr1:173693000-173702600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:173693200-173695000	Weak transcription	Placenta	Placenta
44	chr1:173693200-173695400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr1:173693200-173695800	ZNF genes & repeats	Fetal Intestine Small	intestine
46	chr1:173693400-173694600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:173693400-173695200	Strong transcription	Fetal Stomach	stomach
48	chr1:173693400-173696200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
49	chr1:173693600-173696000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:173693600-173696600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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