Variant report

Variant	rs12091157
Chromosome Location	chr1:174208272-174208273
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:174148713..174151052-chr1:174207157..174208937,2	MCF-7	breast:
2	chr1:174207103..174211366-chr1:174211395..174216784,8	MCF-7	breast:

Extended variants
information (count: 118 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10798307	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10798309	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10798311	0.80[EUR][1000 genomes]
rs10912728	0.82[EUR][1000 genomes]
rs10912733	0.81[EUR][1000 genomes]
rs10912735	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10912737	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10912740	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10912741	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10912746	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10912747	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10912750	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10912751	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10912753	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10912754	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10912757	0.83[AFR][1000 genomes]
rs10912762	0.83[AFR][1000 genomes]
rs10912774	0.80[EUR][1000 genomes]
rs10912782	0.80[EUR][1000 genomes]
rs11802158	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11807537	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12059434	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12065785	0.84[EUR][1000 genomes]
rs12074276	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12076453	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12076771	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12079214	0.83[EUR][1000 genomes]
rs12079687	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12079689	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12080977	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12081445	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12082461	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12083540	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12085311	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12087808	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12091012	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12091155	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12093691	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12097252	0.83[AFR][1000 genomes]
rs12354141	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1407127	0.81[EUR][1000 genomes]
rs1417186	0.85[EUR][1000 genomes]
rs1591944	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16846717	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs16846718	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs16846816	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16846938	0.80[EUR][1000 genomes]
rs17300775	0.85[EUR][1000 genomes]
rs17350956	0.81[EUR][1000 genomes]
rs17353198	0.80[EUR][1000 genomes]
rs1934681	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2103640	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2860907	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3086	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4233169	0.82[EUR][1000 genomes]
rs4233171	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4607949	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4650950	0.82[EUR][1000 genomes]
rs4650951	0.82[EUR][1000 genomes]
rs4650958	0.86[EUR][1000 genomes]
rs4650959	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4650968	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4650969	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4650981	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4652179	0.81[EUR][1000 genomes]
rs4652191	0.82[EUR][1000 genomes]
rs4652193	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4652204	0.83[EUR][1000 genomes]
rs4652275	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55698100	0.97[EUR][1000 genomes]
rs56152378	0.81[EUR][1000 genomes]
rs56158362	0.85[EUR][1000 genomes]
rs56239105	0.85[EUR][1000 genomes]
rs56338048	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56375942	0.85[EUR][1000 genomes]
rs56404641	0.85[EUR][1000 genomes]
rs57407575	0.81[EUR][1000 genomes]
rs59044210	0.83[EUR][1000 genomes]
rs59649440	0.91[EUR][1000 genomes]
rs61528155	0.80[EUR][1000 genomes]
rs6425277	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6656491	0.81[EUR][1000 genomes]
rs6666588	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6668008	0.83[EUR][1000 genomes]
rs6670425	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs6676161	0.84[EUR][1000 genomes]
rs6678209	0.81[AFR][1000 genomes]
rs6678286	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6685499	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6692437	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6693198	0.84[AFR][1000 genomes]
rs6694208	0.82[EUR][1000 genomes]
rs724888	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs724889	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72711443	0.82[EUR][1000 genomes]
rs72711457	0.81[EUR][1000 genomes]
rs72711487	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72711492	0.84[EUR][1000 genomes]
rs72711501	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72713503	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72713504	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72713505	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs727912	0.82[EUR][1000 genomes]
rs7535987	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7536987	0.80[EUR][1000 genomes]
rs7551605	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv528675	chr1:174195629-174219398	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12091157	RABGAP1L	cis	Esophagus Muscularis	GTEx
rs12091157	RP11-160H22.5	cis	Thyroid	GTEx

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174176000-174222400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr1:174176800-174222400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:174177200-174212000	Weak transcription	Lung	lung
4	chr1:174178600-174212200	Weak transcription	Psoas Muscle	Psoas
5	chr1:174186600-174216600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:174186800-174212800	Weak transcription	Fetal Heart	heart
7	chr1:174186800-174213200	Weak transcription	Ovary	ovary
8	chr1:174186800-174217000	Weak transcription	Brain Angular Gyrus	brain
9	chr1:174186800-174232000	Weak transcription	HSMMtube	muscle
10	chr1:174187000-174217000	Weak transcription	Pancreas	Pancrea
11	chr1:174188600-174213400	Weak transcription	Spleen	Spleen
12	chr1:174189000-174232000	Weak transcription	HSMM	muscle
13	chr1:174189200-174216800	Weak transcription	Small Intestine	intestine
14	chr1:174189600-174215400	Weak transcription	NH-A	brain
15	chr1:174191000-174215600	Weak transcription	Fetal Brain Male	brain
16	chr1:174191400-174215400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:174191400-174232000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:174191600-174208600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:174191600-174213400	Weak transcription	Thymus	Thymus
20	chr1:174191600-174232200	Weak transcription	Brain Substantia Nigra	brain
21	chr1:174191800-174215600	Weak transcription	Brain Anterior Caudate	brain
22	chr1:174192000-174208400	Weak transcription	Fetal Kidney	kidney
23	chr1:174192000-174208600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:174192000-174215200	Weak transcription	HMEC	breast
25	chr1:174192000-174219400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:174192200-174213200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:174192400-174224600	Weak transcription	Fetal Thymus	thymus
28	chr1:174192600-174213600	Weak transcription	Fetal Intestine Small	intestine
29	chr1:174193200-174212800	Weak transcription	Hela-S3	cervix
30	chr1:174197000-174213400	Weak transcription	Colonic Mucosa	Colon
31	chr1:174198800-174213400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:174199400-174213400	Weak transcription	Gastric	stomach
33	chr1:174200600-174216000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr1:174200800-174213600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:174200800-174249200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:174201000-174209400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr1:174201000-174213200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr1:174201000-174213400	Weak transcription	Aorta	Aorta
39	chr1:174201000-174217600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:174201000-174221800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr1:174201000-174249800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr1:174201200-174212200	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr1:174201200-174213400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:174201200-174218200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:174201200-174221400	Weak transcription	NHDF-Ad	bronchial
46	chr1:174201400-174209200	Weak transcription	Primary B cells from cord blood	blood
47	chr1:174201400-174213400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr1:174201400-174213400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:174201600-174210800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr1:174201800-174213400	Weak transcription	Fetal Stomach	stomach

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