Variant report

Variant	rs12068637
Chromosome Location	chr1:174871620-174871621
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	chr1:174870016..174872677-chr1:174967826..174970227,2	K562	blood:

Variant related genes	Relation type
ENSG00000116161	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1002125	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10158096	0.81[EUR][1000 genomes]
rs10489333	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10494493	0.81[EUR][1000 genomes]
rs10912849	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10912850	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12063802	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12065854	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12066247	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12074821	0.83[EUR][1000 genomes]
rs12087196	0.80[EUR][1000 genomes]
rs12087589	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12566477	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847402	0.81[EUR][1000 genomes]
rs16847450	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16847563	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16847633	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2285209	0.80[EUR][1000 genomes]
rs28660133	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34952844	0.81[EUR][1000 genomes]
rs41524947	0.81[EUR][1000 genomes]
rs57366106	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61826953	0.81[EUR][1000 genomes]
rs61828065	0.81[EUR][1000 genomes]
rs61828068	0.83[EUR][1000 genomes]
rs61828081	0.83[EUR][1000 genomes]
rs61828087	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61828088	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61828117	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61828121	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61828143	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61828144	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61828148	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61828149	0.81[EUR][1000 genomes]
rs61828151	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61828152	0.80[EUR][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
rs12068637	SERPINC1	cis	Muscle Skeletal	GTEx

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174844800-174874400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:174844800-174877400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:174846800-174874000	Weak transcription	Ovary	ovary
4	chr1:174847600-174874400	Weak transcription	Esophagus	oesophagus
5	chr1:174850200-174874800	Weak transcription	Fetal Stomach	stomach
6	chr1:174852000-174873400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:174852800-174874800	Weak transcription	Spleen	Spleen
8	chr1:174856800-174876400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:174859000-174874000	Weak transcription	Brain Angular Gyrus	brain
10	chr1:174859600-174873400	Weak transcription	K562	blood
11	chr1:174861400-174876200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:174861400-174902400	Weak transcription	Left Ventricle	heart
13	chr1:174862800-174882400	Weak transcription	Fetal Lung	lung
14	chr1:174863200-174883200	Weak transcription	Small Intestine	intestine
15	chr1:174863400-174881400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr1:174863600-174873800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:174863600-174874200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:174863800-174876000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:174863800-174883000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:174864200-174882000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr1:174864600-174874000	Weak transcription	Aorta	Aorta
22	chr1:174867400-174871800	Genic enhancers	HUES48 Cell Line	embryonic stem cell
23	chr1:174868400-174873400	Weak transcription	Fetal Intestine Large	intestine
24	chr1:174868600-174872800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr1:174868800-174874800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr1:174869000-174875200	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:174869200-174872000	Strong transcription	Primary B cells from cord blood	blood
28	chr1:174869600-174874400	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:174869600-174877600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:174869800-174874000	Weak transcription	HSMMtube	muscle
31	chr1:174869800-174874600	Weak transcription	Primary T cells from cord blood	blood
32	chr1:174870000-174871800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:174870000-174874800	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:174870000-174877600	Weak transcription	Brain Anterior Caudate	brain
35	chr1:174870200-174872000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
36	chr1:174870200-174874000	Weak transcription	Right Atrium	heart
37	chr1:174870400-174872000	ZNF genes & repeats	Fetal Intestine Small	intestine
38	chr1:174870600-174872000	Strong transcription	Duodenum Mucosa	Duodenum
39	chr1:174870800-174872000	Genic enhancers	H9 Cell Line	embryonic stem cell
40	chr1:174870800-174872400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:174871000-174872000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:174871000-174872000	Enhancers	Pancreas	Pancrea
43	chr1:174871000-174873800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr1:174871000-174874200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:174871200-174872000	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:174871200-174872000	ZNF genes & repeats	GM12878-XiMat	blood
47	chr1:174871200-174872200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:174871200-174872200	Enhancers	Liver	Liver
49	chr1:174871200-174872200	Enhancers	HMEC	breast
50	chr1:174871200-174872600	Strong transcription	Primary T cells fromperipheralblood	blood

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