Variant report

Variant	rs61828595
Chromosome Location	chr1:174239597-174239598
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	chr1:174238690..174241615-chr1:174967478..174969557,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116161	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10127823	0.89[EUR][1000 genomes]
rs10494491	0.82[EUR][1000 genomes]
rs12562344	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12564848	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12564858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12564876	1.00[AFR][1000 genomes]
rs12565675	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12566643	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12567854	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12567864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12568869	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12737218	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1407126	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs16828467	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs16846667	0.89[EUR][1000 genomes]
rs16846688	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1890881	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2015075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28595073	0.82[EUR][1000 genomes]
rs36013663	0.82[EUR][1000 genomes]
rs41265242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41266044	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4140468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57651489	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58866024	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60005461	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60039606	0.90[EUR][1000 genomes]
rs61826824	0.82[EUR][1000 genomes]
rs61826826	0.81[EUR][1000 genomes]
rs61826829	0.84[EUR][1000 genomes]
rs61826831	0.84[EUR][1000 genomes]
rs61826863	1.00[AFR][1000 genomes]
rs61826865	1.00[AFR][1000 genomes]
rs61826867	1.00[AFR][1000 genomes]
rs61826868	1.00[AFR][1000 genomes]
rs61826869	1.00[AFR][1000 genomes]
rs61826873	1.00[AFR][1000 genomes]
rs61826876	0.87[AFR][1000 genomes]
rs61826877	0.87[AFR][1000 genomes]
rs61827889	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs61827900	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs61827901	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs61827902	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs61827903	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs61827904	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs61827905	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61828571	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61828574	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61828575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61828576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61828577	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61828578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61828580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61828583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61828584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61828587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61828589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61828590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61828591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61828592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61828622	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61828624	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61828625	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61828627	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61828630	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs61828631	1.00[AFR][1000 genomes]
rs61828635	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs61828645	1.00[AFR][1000 genomes]
rs61828653	1.00[AFR][1000 genomes]
rs6684527	0.82[EUR][1000 genomes]
rs7525325	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs965498	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872552	chr1:174061844-174469748	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1008314	chr1:174080192-174311023	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv535207	chr1:174080192-174311023	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	esv1799250	chr1:174119038-174484277	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv1800060	chr1:174132703-174501836	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv465672	chr1:174133251-174469905	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv548194	chr1:174133251-174469905	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv470746	chr1:174150850-174469905	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1001803	chr1:174176164-174367747	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv1008993	chr1:174180019-174331358	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	nsv872553	chr1:174195629-174373379	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv872554	chr1:174209978-174291950	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	nsv1010069	chr1:174215293-174539512	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61828595	SERPINC1	cis	Muscle Skeletal	GTEx

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174200800-174249200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:174201000-174249800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:174202400-174256800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr1:174208600-174249200	Weak transcription	Placenta	Placenta
5	chr1:174211200-174258200	Weak transcription	Dnd41	blood
6	chr1:174213800-174249800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:174213800-174258600	Weak transcription	K562	blood
8	chr1:174214200-174249400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr1:174214200-174249800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:174214400-174249000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:174214400-174250000	Weak transcription	Adipose Nuclei	Adipose
12	chr1:174214400-174250600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:174214600-174249400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr1:174214600-174270000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:174215400-174249000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr1:174216400-174247400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:174217000-174249800	Weak transcription	Left Ventricle	heart
18	chr1:174221400-174247200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:174223200-174249200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr1:174223400-174257800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr1:174224800-174249200	Weak transcription	Primary T cells from cord blood	blood
22	chr1:174232400-174242400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr1:174232400-174248600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:174232400-174249600	Weak transcription	Psoas Muscle	Psoas
25	chr1:174232400-174250200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:174232400-174250200	Weak transcription	Fetal Stomach	stomach
27	chr1:174232400-174258200	Weak transcription	Gastric	stomach
28	chr1:174232400-174258800	Weak transcription	Aorta	Aorta
29	chr1:174232400-174258800	Weak transcription	Right Ventricle	heart
30	chr1:174232400-174259400	Weak transcription	HSMM	muscle
31	chr1:174232600-174250600	Weak transcription	Brain Substantia Nigra	brain
32	chr1:174232600-174252800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:174232600-174262000	Weak transcription	HMEC	breast
34	chr1:174234800-174249400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:174236000-174259800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:174236400-174241400	Enhancers	HepG2	liver
37	chr1:174236600-174249200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:174236600-174250400	Weak transcription	Fetal Lung	lung
39	chr1:174236800-174249400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:174237400-174242600	Weak transcription	Fetal Heart	heart
41	chr1:174238200-174241000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:174238200-174261200	Weak transcription	Hela-S3	cervix
43	chr1:174238600-174241400	Enhancers	Liver	Liver
44	chr1:174238600-174249200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:174238600-174249800	Weak transcription	Lung	lung
46	chr1:174238800-174242400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr1:174239000-174239600	Enhancers	Primary B cells from cord blood	blood
48	chr1:174239200-174239600	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr1:174239200-174240200	Weak transcription	Fetal Intestine Large	intestine
50	chr1:174239200-174240400	Weak transcription	Fetal Intestine Small	intestine

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