Variant report

Variant	rs10922162
Chromosome Location	chr1:197070776-197070777
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197068919..197071341-chr1:197120763..197122532,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10737686	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10801582	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs10801583	0.80[EUR][1000 genomes]
rs10801586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10922151	0.80[EUR][1000 genomes]
rs10922167	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10922168	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10922177	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes]
rs10922179	0.87[EUR][1000 genomes]
rs12028827	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12034362	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12042442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12075161	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12085377	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12116643	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.80[TSI][hapmap];0.84[EUR][1000 genomes]
rs12128631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12134960	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12137359	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1332660	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1332664	0.82[EUR][1000 genomes]
rs1412636	0.80[EUR][1000 genomes]
rs2298883	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4639796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4915344	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5993	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61819092	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72738632	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv2757767	chr1:196977799-197169772	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv873065	chr1:197027749-197076194	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv873068	chr1:197046782-197076194	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
7	nsv873069	chr1:197055925-197109042	Weak transcription Enhancers Strong transcription 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	4 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
End-stage coagulation	23381943	GWAS catalog

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10922162	CFH	cis	parietal	SCAN
rs10922162	CFHR2	cis	cerebellum	SCAN
rs10922162	F13B	cis	cerebellum	SCAN

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197052200-197074400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:197052200-197076200	Weak transcription	NHLF	lung
3	chr1:197052200-197083600	Weak transcription	Fetal Stomach	stomach
4	chr1:197052200-197106600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:197052200-197114200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:197054000-197071200	Weak transcription	Brain Germinal Matrix	brain
7	chr1:197054200-197071200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:197054200-197113600	Weak transcription	Fetal Kidney	kidney
9	chr1:197054600-197072400	Weak transcription	Thymus	Thymus
10	chr1:197055000-197114200	Weak transcription	Primary B cells from cord blood	blood
11	chr1:197055600-197074000	Weak transcription	Placenta	Placenta
12	chr1:197057200-197071800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:197057200-197073200	Weak transcription	NHEK	skin
14	chr1:197058800-197070800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:197060000-197073800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:197060400-197071200	Weak transcription	Fetal Lung	lung
17	chr1:197060400-197072400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:197061200-197073200	Weak transcription	HepG2	liver
19	chr1:197061800-197072000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:197063000-197071600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:197063000-197071600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:197063000-197072400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:197063000-197072400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr1:197063000-197072400	Weak transcription	GM12878-XiMat	blood
25	chr1:197063000-197072600	Weak transcription	A549	lung
26	chr1:197063000-197072600	Weak transcription	HUVEC	blood vessel
27	chr1:197063000-197072800	Weak transcription	NH-A	brain
28	chr1:197063000-197073200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:197063200-197072400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr1:197063600-197072400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:197064000-197073000	Weak transcription	HMEC	breast
32	chr1:197064200-197072800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:197064600-197073000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr1:197064800-197072200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:197065400-197071000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:197065600-197071800	Weak transcription	Fetal Brain Female	brain
37	chr1:197065600-197072000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:197065600-197072000	Weak transcription	NHDF-Ad	bronchial
39	chr1:197065800-197073000	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr1:197066600-197072400	Weak transcription	Ovary	ovary
41	chr1:197066600-197083600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr1:197067000-197071800	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr1:197067000-197092200	Weak transcription	Fetal Intestine Large	intestine
44	chr1:197068200-197071800	Weak transcription	HSMM	muscle
45	chr1:197068200-197072800	Weak transcription	Hela-S3	cervix
46	chr1:197068800-197070800	Weak transcription	K562	blood
47	chr1:197069000-197071200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr1:197069200-197070800	Weak transcription	Fetal Thymus	thymus
49	chr1:197069200-197071400	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr1:197069200-197071400	Enhancers	Primary T helper cells PMA-I stimulated	--

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