Variant report

Variant	rs12026391
Chromosome Location	chr1:185279353-185279354
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	chr1:185124975..185127830-chr1:185279297..185282140,2	K562	blood:
2	chr1:185273218..185275398-chr1:185278359..185280064,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116668	Chromatin interaction
ENSG00000121486	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10157232	0.89[EUR][1000 genomes]
rs10174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10752947	0.95[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.90[MEX][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10798002	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10798003	0.92[CEU][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes]
rs10798004	0.82[CEU][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs10798006	0.88[EUR][1000 genomes]
rs10911693	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs10911700	0.92[CEU][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs10911702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10911704	0.96[CEU][hapmap];0.84[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10911707	0.82[TSI][hapmap];0.87[EUR][1000 genomes]
rs10911708	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12041704	0.87[ASW][hapmap];0.92[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.91[TSI][hapmap];0.89[YRI][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12044943	0.89[EUR][1000 genomes]
rs12135769	0.89[CEU][hapmap];0.84[TSI][hapmap]
rs12136040	0.88[EUR][1000 genomes]
rs1336752	0.84[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap]
rs1336753	0.83[EUR][1000 genomes]
rs17641003	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1889976	0.92[CEU][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes]
rs2095610	0.82[EUR][1000 genomes]
rs2152707	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2224027	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs2281416	0.83[CHB][hapmap];0.87[EUR][1000 genomes]
rs2378909	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2378910	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34611062	0.86[EUR][1000 genomes]
rs57977436	0.87[EUR][1000 genomes]
rs6656019	0.90[EUR][1000 genomes]
rs66845254	0.90[EUR][1000 genomes]
rs6685627	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6687774	0.83[CHB][hapmap];0.84[TSI][hapmap];0.87[EUR][1000 genomes]
rs7123	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs726567	0.96[CEU][hapmap];0.89[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7512337	0.89[EUR][1000 genomes]
rs7531487	0.84[EUR][1000 genomes]
rs7537341	0.82[CEU][hapmap];0.83[TSI][hapmap]
rs7539575	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs7542721	0.88[EUR][1000 genomes]
rs7545878	0.89[CEU][hapmap];0.89[GIH][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs7550586	0.84[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap]
rs883753	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs951428	0.84[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap]
rs997283	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS 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	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12026391	IVNS1ABP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185262000-185279400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:185262000-185279800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:185262000-185280400	Strong transcription	Placenta	Placenta
4	chr1:185262000-185280800	Strong transcription	HMEC	breast
5	chr1:185262000-185281000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:185262000-185281600	Strong transcription	Fetal Thymus	thymus
7	chr1:185262000-185281800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:185262000-185281800	Strong transcription	HSMM	muscle
9	chr1:185262200-185280400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:185262200-185280600	Strong transcription	NH-A	brain
11	chr1:185262200-185281000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:185262400-185280400	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr1:185262600-185280400	Strong transcription	Primary hematopoietic stem cells	blood
14	chr1:185262600-185280400	Strong transcription	Osteobl	bone
15	chr1:185262800-185280600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:185263000-185280000	Strong transcription	Brain Germinal Matrix	brain
17	chr1:185263000-185280400	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr1:185263000-185281400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:185263200-185279800	Strong transcription	Primary B cells from cord blood	blood
20	chr1:185263200-185280200	Strong transcription	Dnd41	blood
21	chr1:185263200-185280400	Strong transcription	Duodenum Mucosa	Duodenum
22	chr1:185263200-185280400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:185263200-185280800	Strong transcription	NHEK	skin
24	chr1:185263600-185280200	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:185263600-185280400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:185263600-185280800	Strong transcription	A549	lung
27	chr1:185263600-185281000	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:185263600-185281000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:185263600-185281600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr1:185263800-185280400	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr1:185263800-185280800	Strong transcription	Hela-S3	cervix
32	chr1:185263800-185281000	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:185263800-185281000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr1:185264000-185280200	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr1:185264000-185281000	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr1:185264200-185279400	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr1:185264400-185280200	Strong transcription	K562	blood
38	chr1:185264400-185280400	Strong transcription	Fetal Muscle Trunk	muscle
39	chr1:185264600-185281000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:185265200-185279800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:185265200-185280600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:185265400-185280400	Strong transcription	Fetal Muscle Leg	muscle
43	chr1:185265600-185280600	Strong transcription	Primary B cells from peripheral blood	blood
44	chr1:185265600-185281000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:185266200-185281600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:185266600-185280200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr1:185266800-185280200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
48	chr1:185268800-185284600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:185270400-185284800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:185270800-185284800	Weak transcription	Gastric	stomach

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