Variant report

Variant	rs10863958
Chromosome Location	chr1:212420286-212420287
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212414204..212417772-chr1:212418799..212421886,6	K562	blood:
2	chr1:212411924..212414180-chr1:212417930..212420577,2	K562	blood:
3	chr1:212407788..212409741-chr1:212419930..212421774,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226251	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1011232	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10735509	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10779577	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10863955	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs10863956	0.99[ASN][1000 genomes]
rs10863957	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11119886	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs11119888	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119890	0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11119891	0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11119893	0.93[ASN][1000 genomes]
rs12090051	0.83[AFR][1000 genomes]
rs12119183	0.88[ASN][1000 genomes]
rs12127954	0.83[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12133134	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs12145377	0.83[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs12145451	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12146141	0.95[ASN][1000 genomes]
rs17018777	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs17018847	0.83[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs17018853	0.83[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs57056017	0.92[AFR][1000 genomes]
rs61260530	0.95[ASN][1000 genomes]
rs884923	0.80[ASN][1000 genomes]
rs903119	0.82[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10863958	C1orf75	Cis_1M	lymphoblastoid	RTeQTL
rs10863958	PPP2R5A	cis	Whole Blood	GTEx

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212412400-212420600	Weak transcription	Fetal Lung	lung
2	chr1:212415200-212420400	Weak transcription	Fetal Heart	heart
3	chr1:212415200-212420800	Weak transcription	Fetal Intestine Small	intestine
4	chr1:212416000-212420600	Weak transcription	Osteobl	bone
5	chr1:212416200-212420600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:212416400-212420600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:212416400-212420600	Weak transcription	Lung	lung
8	chr1:212416400-212420600	Enhancers	HepG2	liver
9	chr1:212416400-212421400	Weak transcription	Psoas Muscle	Psoas
10	chr1:212416600-212420600	Weak transcription	Fetal Stomach	stomach
11	chr1:212416600-212420600	Weak transcription	Left Ventricle	heart
12	chr1:212416600-212420600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:212416600-212420600	Weak transcription	Right Ventricle	heart
14	chr1:212416600-212420600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr1:212416600-212420800	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:212416600-212430000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:212416800-212420800	Weak transcription	Liver	Liver
18	chr1:212418000-212420600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:212418000-212420600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:212418000-212420600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:212418000-212423800	Weak transcription	Stomach Mucosa	stomach
22	chr1:212418200-212428400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:212418400-212420800	Weak transcription	Fetal Intestine Large	intestine
24	chr1:212418800-212421000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr1:212419000-212420800	Enhancers	Primary hematopoietic stem cells	blood
26	chr1:212419000-212421000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr1:212419000-212421000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:212419600-212422400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr1:212419800-212420400	Weak transcription	NHLF	lung
30	chr1:212419800-212421200	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr1:212419800-212421600	Enhancers	Spleen	Spleen
32	chr1:212419800-212425200	Weak transcription	Primary B cells from cord blood	blood
33	chr1:212420000-212420600	Enhancers	Right Atrium	heart
34	chr1:212420000-212421000	Enhancers	Fetal Muscle Leg	muscle
35	chr1:212420200-212420600	Enhancers	Adipose Nuclei	Adipose
36	chr1:212420200-212420600	Enhancers	HUVEC	blood vessel
37	chr1:212420200-212420600	Enhancers	K562	blood
38	chr1:212420200-212421000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:212420200-212421000	Enhancers	Skeletal Muscle Male	skeletal muscle

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