Variant report

Variant	rs61828121
Chromosome Location	chr1:174851198-174851199
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:174850728..174852861-chr1:174992244..174993998,2	K562	blood:
2	chr1:174849949..174852627-chr1:174855691..174858131,3	K562	blood:
3	chr1:174841809..174843919-chr1:174850326..174853218,2	MCF-7	breast:
4	chr1:174844952..174848677-chr1:174850094..174853118,4	K562	blood:
5	chr1:174851054..174854468-chr1:174967106..174970094,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120333	Chromatin interaction
ENSG00000152061	Chromatin interaction
ENSG00000116161	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1002125	0.87[AMR][1000 genomes]
rs10158096	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10489333	0.87[AMR][1000 genomes]
rs10494493	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10912849	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10912850	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12063802	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12065854	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12066247	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12068637	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12074821	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12087196	0.87[AMR][1000 genomes]
rs12087589	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12562194	0.81[AMR][1000 genomes]
rs12563930	0.81[EUR][1000 genomes]
rs12565810	1.00[AFR][1000 genomes]
rs12565944	0.81[AMR][1000 genomes]
rs12566477	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16847257	1.00[AFR][1000 genomes]
rs16847271	1.00[AFR][1000 genomes]
rs16847402	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16847450	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16847563	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16847633	0.87[AMR][1000 genomes]
rs16847706	0.81[AMR][1000 genomes]
rs2285209	0.87[AMR][1000 genomes]
rs28660133	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34952844	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs41266068	0.81[AMR][1000 genomes]
rs41266072	0.81[AMR][1000 genomes]
rs41524947	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs57353443	0.81[EUR][1000 genomes]
rs57366106	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61826924	1.00[AFR][1000 genomes]
rs61826925	1.00[AFR][1000 genomes]
rs61826942	1.00[AFR][1000 genomes]
rs61826949	1.00[AFR][1000 genomes]
rs61826950	1.00[AFR][1000 genomes]
rs61826952	0.81[EUR][1000 genomes]
rs61826953	0.82[EUR][1000 genomes]
rs61826956	0.81[EUR][1000 genomes]
rs61826957	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61826959	0.81[EUR][1000 genomes]
rs61828062	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs61828064	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs61828065	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61828068	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61828081	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61828087	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61828088	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61828117	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61828143	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61828144	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61828148	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61828149	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs61828151	0.87[AMR][1000 genomes]
rs61828152	0.84[AMR][1000 genomes]
rs61828156	1.00[AFR][1000 genomes]
rs61828157	0.81[AMR][1000 genomes]
rs7523516	0.81[EUR][1000 genomes];0.83[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
rs61828121	SERPINC1	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174844000-174852000	Weak transcription	Left Ventricle	heart
2	chr1:174844000-174855200	Weak transcription	Right Atrium	heart
3	chr1:174844200-174852400	Weak transcription	Adipose Nuclei	Adipose
4	chr1:174844600-174853000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:174844800-174852600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr1:174844800-174871600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:174844800-174874400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:174844800-174877400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:174845000-174856200	Weak transcription	Primary B cells from cord blood	blood
10	chr1:174845000-174862800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:174845000-174863000	Weak transcription	Primary T cells from cord blood	blood
12	chr1:174845200-174852600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr1:174845200-174862600	Weak transcription	Liver	Liver
14	chr1:174846200-174861200	Weak transcription	GM12878-XiMat	blood
15	chr1:174846600-174862800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr1:174846800-174852200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:174846800-174852400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:174846800-174852600	Weak transcription	Small Intestine	intestine
19	chr1:174846800-174855200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:174846800-174855200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:174846800-174861000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:174846800-174874000	Weak transcription	Ovary	ovary
23	chr1:174847000-174852400	Weak transcription	HSMMtube	muscle
24	chr1:174847000-174855400	Weak transcription	Colonic Mucosa	Colon
25	chr1:174847000-174869200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:174847200-174852600	Weak transcription	Fetal Lung	lung
27	chr1:174847200-174853000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:174847400-174852000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr1:174847400-174862800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:174847400-174863000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr1:174847400-174864400	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:174847400-174864600	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr1:174847400-174864600	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:174847600-174852600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:174847600-174852600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:174847600-174874400	Weak transcription	Esophagus	oesophagus
37	chr1:174848000-174851200	Strong transcription	Fetal Intestine Small	intestine
38	chr1:174849200-174858400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:174849200-174864400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:174849600-174864400	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr1:174850000-174852400	Weak transcription	Stomach Mucosa	stomach
42	chr1:174850000-174853000	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr1:174850200-174852200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr1:174850200-174855400	Weak transcription	Fetal Intestine Large	intestine
45	chr1:174850200-174861200	Weak transcription	Pancreas	Pancrea
46	chr1:174850200-174874800	Weak transcription	Fetal Stomach	stomach
47	chr1:174850400-174852200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr1:174850400-174852200	Weak transcription	K562	blood
49	chr1:174850400-174856000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr1:174850400-174869600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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