Variant report

Variant	rs12063313
Chromosome Location	chr1:173984763-173984764
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:173975275..173977152-chr1:173983041..173985333,2	K562	blood:
2	chr1:173982774..173988202-chr1:173988612..173994506,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224977	Chromatin interaction
ENSG00000135870	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10798302	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10912719	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10912722	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12066153	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12076799	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12092774	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12096785	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12097809	0.84[ASN][1000 genomes]
rs13375086	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1884994	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56247945	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs61826843	0.82[EUR][1000 genomes]
rs6665484	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6673632	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6677660	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6686083	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6689285	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6696163	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs714624	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7413166	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7538312	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7547280	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7554915	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916960	chr1:173907804-174080248	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv872551	chr1:173913804-174025660	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv831937	chr1:173949373-174131463	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12063313	SERPINC1	cis	Esophagus Mucosa	GTEx
rs12063313	SERPINC1	cis	lung	GTEx

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173942200-173986200	Weak transcription	Fetal Brain Male	brain
2	chr1:173958600-173987200	Weak transcription	Gastric	stomach
3	chr1:173962000-173988400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:173962200-173989000	Weak transcription	Fetal Kidney	kidney
5	chr1:173962200-173989600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:173962200-173989600	Weak transcription	Aorta	Aorta
7	chr1:173962200-173989800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:173962200-173990400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:173962400-173987800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:173962600-173986000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:173962600-173988400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:173962600-173988600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:173962600-173989400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:173962800-173989800	Weak transcription	Placenta	Placenta
15	chr1:173965000-173989600	Weak transcription	Fetal Thymus	thymus
16	chr1:173965200-173986600	Weak transcription	HUVEC	blood vessel
17	chr1:173966200-173986200	Weak transcription	Fetal Brain Female	brain
18	chr1:173966200-173989800	Weak transcription	Fetal Muscle Leg	muscle
19	chr1:173966400-173986600	Weak transcription	Thymus	Thymus
20	chr1:173966400-173987800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr1:173966400-173989600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:173966400-173989800	Weak transcription	Esophagus	oesophagus
23	chr1:173967800-173987600	Weak transcription	Brain Germinal Matrix	brain
24	chr1:173968400-173987200	Weak transcription	Fetal Intestine Large	intestine
25	chr1:173971200-173988400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:173974600-173986400	Weak transcription	HSMM	muscle
27	chr1:173975000-173986400	Weak transcription	HMEC	breast
28	chr1:173975200-173986000	Weak transcription	Dnd41	blood
29	chr1:173975200-173987200	Weak transcription	NHLF	lung
30	chr1:173975400-173987200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:173975600-173986000	Weak transcription	Adipose Nuclei	Adipose
32	chr1:173975600-173986200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:173975800-173986400	Weak transcription	NHDF-Ad	bronchial
34	chr1:173976600-173990000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr1:173976800-173986400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:173977000-173984800	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr1:173977000-173986400	Weak transcription	Fetal Stomach	stomach
38	chr1:173977200-173986400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:173977200-173989200	Weak transcription	NH-A	brain
40	chr1:173977800-173987200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:173977800-173988400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:173978600-173985600	Weak transcription	Colonic Mucosa	Colon
43	chr1:173978600-173986000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:173978600-173986000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr1:173978600-173986000	Weak transcription	GM12878-XiMat	blood
46	chr1:173978600-173986600	Weak transcription	Hela-S3	cervix
47	chr1:173978600-173989200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr1:173978800-173986000	Weak transcription	Brain Angular Gyrus	brain
49	chr1:173978800-173986000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr1:173978800-173986600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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