Variant report

Variant	rs61827862
Chromosome Location	chr1:173739948-173739949
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173737933..173739972-chr1:173748335..173750553,2	MCF-7	breast:
2	chr1:173733973..173736471-chr1:173739138..173740675,2	K562	blood:
3	chr1:173713824..173715572-chr1:173738278..173740994,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs12060191	0.89[ASN][1000 genomes]
rs12063818	0.89[ASN][1000 genomes]
rs12561796	0.83[AFR][1000 genomes]
rs12563156	0.88[ASN][1000 genomes]
rs1322776	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1322778	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1322779	0.89[ASN][1000 genomes]
rs2227588	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2227590	0.85[ASN][1000 genomes]
rs2227593	0.85[ASN][1000 genomes]
rs2227594	0.85[ASN][1000 genomes]
rs2227595	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2227596	0.85[ASN][1000 genomes]
rs2227597	0.85[ASN][1000 genomes]
rs2227601	0.87[ASN][1000 genomes]
rs2227612	0.88[ASN][1000 genomes]
rs2295958	0.88[ASN][1000 genomes]
rs4652283	0.89[ASN][1000 genomes]
rs4652298	0.89[ASN][1000 genomes]
rs4652328	0.89[ASN][1000 genomes]
rs57995528	0.89[ASN][1000 genomes]
rs60265316	0.89[ASN][1000 genomes]
rs61826793	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61826814	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61826815	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61826817	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61826818	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61827928	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61827930	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61827932	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61827933	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61827934	0.88[ASN][1000 genomes]
rs61827935	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61827936	0.88[ASN][1000 genomes]
rs61827938	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs61827956	0.84[ASN][1000 genomes]
rs61827959	0.81[AMR][1000 genomes]
rs61828917	0.83[AFR][1000 genomes]
rs6695940	0.87[ASN][1000 genomes]
rs677	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73039035	0.88[ASN][1000 genomes]
rs9286896	0.84[ASN][1000 genomes]
rs9425431	0.89[ASN][1000 genomes]
rs9425433	0.89[ASN][1000 genomes]
rs9425434	0.89[ASN][1000 genomes]
rs9425436	0.86[ASN][1000 genomes]
rs9425762	0.89[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	nsv831926	chr1:173702403-173894667	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	291 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61827862	SERPINC1	cis	Muscle Skeletal	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173726200-173760600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:173726600-173749000	Weak transcription	Fetal Heart	heart
3	chr1:173727200-173744000	Weak transcription	NH-A	brain
4	chr1:173727600-173744600	Weak transcription	HSMM	muscle
5	chr1:173727600-173750600	Weak transcription	HUVEC	blood vessel
6	chr1:173727600-173751400	Weak transcription	NHDF-Ad	bronchial
7	chr1:173727800-173743600	Weak transcription	HepG2	liver
8	chr1:173727800-173744000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:173728000-173744400	Weak transcription	NHLF	lung
10	chr1:173728400-173743400	Weak transcription	NHEK	skin
11	chr1:173728400-173744200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:173728400-173744200	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:173728600-173743200	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:173728600-173743200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:173728600-173743600	Weak transcription	Brain Substantia Nigra	brain
16	chr1:173728600-173744400	Weak transcription	Fetal Brain Male	brain
17	chr1:173728800-173740400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:173728800-173743400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr1:173728800-173743400	Weak transcription	Gastric	stomach
20	chr1:173728800-173743400	Weak transcription	Lung	lung
21	chr1:173728800-173743600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:173728800-173744000	Weak transcription	Aorta	Aorta
23	chr1:173728800-173744200	Weak transcription	Pancreas	Pancrea
24	chr1:173728800-173744200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:173728800-173744200	Weak transcription	HMEC	breast
26	chr1:173728800-173744600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:173728800-173744600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:173728800-173744600	Weak transcription	Osteobl	bone
29	chr1:173728800-173748600	Weak transcription	Hela-S3	cervix
30	chr1:173728800-173749000	Weak transcription	Colonic Mucosa	Colon
31	chr1:173728800-173750000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:173728800-173764800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr1:173729000-173743400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:173729000-173743400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:173729000-173743400	Weak transcription	Spleen	Spleen
36	chr1:173729000-173743400	Weak transcription	Dnd41	blood
37	chr1:173729000-173744000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:173729000-173744000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:173729000-173744000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:173729000-173744000	Weak transcription	Brain Angular Gyrus	brain
41	chr1:173729000-173744000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr1:173729000-173744000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr1:173729000-173744600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr1:173729000-173749000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:173729000-173752400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr1:173729000-173752600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:173729000-173752600	Weak transcription	Right Ventricle	heart
48	chr1:173729200-173744400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr1:173729600-173752200	Weak transcription	A549	lung
50	chr1:173729800-173744000	Weak transcription	Psoas Muscle	Psoas

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