Variant report

Variant	rs2119479
Chromosome Location	chr13:111371181-111371182
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:111368423..111371345-chr13:111411343..111413791,2	K562	blood:
2	chr13:111368227..111372332-chr13:111523767..111528470,4	MCF-7	breast:
3	chr13:111370419..111377483-chr13:111379803..111385146,6	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1061386	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11618891	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12875067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1441042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1441043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2083568	0.86[AMR][1000 genomes]
rs2165418	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2289461	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3809344	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3818496	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4771707	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4773240	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4773241	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.92[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4773244	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61971615	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6492302	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6492303	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6492304	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6492305	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6492306	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6492308	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6492310	0.82[AMR][1000 genomes]
rs7318291	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7319459	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7330080	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7337126	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7338458	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs754599	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7984468	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7985098	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7986286	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7991766	0.87[EUR][1000 genomes]
rs9301476	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9515273	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9515274	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9521905	0.88[EUR][1000 genomes]
rs9521909	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9521910	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9521913	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9521914	0.85[EUR][1000 genomes]
rs9521915	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9521924	0.82[AMR][1000 genomes]
rs9555724	1.00[CEU][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9555726	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9559863	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9588247	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949634	chr13:111151460-111582996	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
2	nsv1044340	chr13:111234073-111692994	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
3	nsv1048700	chr13:111265350-111658617	Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
4	nsv901014	chr13:111302922-111380684	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	197 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2119479	CARS2	cis	Nerve Tibial	GTEx
rs2119479	CARKD	cis	parietal	SCAN
rs2119479	CARS2	Cis_1M	lymphoblastoid	RTeQTL
rs2119479	CARS2	cis	parietal	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111368800-111371200	Weak transcription	Gastric	stomach
2	chr13:111368800-111371200	Weak transcription	Spleen	Spleen
3	chr13:111368800-111371600	Weak transcription	Small Intestine	intestine
4	chr13:111369000-111371200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:111369000-111371400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr13:111369000-111371400	Weak transcription	Esophagus	oesophagus
7	chr13:111369000-111371600	Weak transcription	Aorta	Aorta
8	chr13:111369000-111371600	Enhancers	Fetal Brain Male	brain
9	chr13:111369200-111371200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr13:111369200-111371400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr13:111369200-111371400	Enhancers	Primary T cells fromperipheralblood	blood
12	chr13:111369200-111371600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr13:111369200-111371600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr13:111369200-111376000	Weak transcription	Colon Smooth Muscle	Colon
15	chr13:111369200-111376200	Weak transcription	HSMMtube	muscle
16	chr13:111369200-111381400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr13:111369400-111371600	Weak transcription	Right Ventricle	heart
18	chr13:111369600-111371600	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr13:111369800-111371400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr13:111369800-111373800	Weak transcription	Brain Angular Gyrus	brain
21	chr13:111370000-111371200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr13:111370000-111371200	Weak transcription	Fetal Stomach	stomach
23	chr13:111370000-111371200	Weak transcription	Fetal Thymus	thymus
24	chr13:111370000-111371200	Weak transcription	Thymus	Thymus
25	chr13:111370000-111371400	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr13:111370000-111371600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr13:111370000-111371600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr13:111370000-111371600	Weak transcription	Placenta	Placenta
29	chr13:111370000-111371600	Enhancers	Lung	lung
30	chr13:111370000-111371800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr13:111370000-111372000	Weak transcription	Primary T cells from cord blood	blood
32	chr13:111370000-111372000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr13:111370200-111371200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr13:111370200-111371200	Weak transcription	Fetal Intestine Small	intestine
35	chr13:111370200-111371400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr13:111370200-111371400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr13:111370200-111371400	Enhancers	Pancreas	Pancrea
38	chr13:111370200-111371600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr13:111370200-111371600	Weak transcription	Colonic Mucosa	Colon
40	chr13:111370200-111371600	Weak transcription	Left Ventricle	heart
41	chr13:111370200-111373600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr13:111370200-111379000	Weak transcription	HUVEC	blood vessel
43	chr13:111370200-111383400	Weak transcription	Right Atrium	heart
44	chr13:111370400-111371200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr13:111370400-111371600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr13:111370400-111371600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr13:111370400-111371600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr13:111370400-111371800	Weak transcription	Fetal Brain Female	brain
49	chr13:111370400-111371800	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr13:111370400-111374600	Weak transcription	HMEC	breast

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