Variant report

Variant	rs9521912
Chromosome Location	chr13:111377354-111377355
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:111376558..111379495-chr13:111384909..111386975,2	K562	blood:
2	chr13:111370419..111377483-chr13:111379803..111385146,6	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1061386	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11618891	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2165418	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4773244	0.87[EUR][1000 genomes]
rs6492308	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7318291	0.82[EUR][1000 genomes]
rs7337126	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7338458	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7984468	0.80[ASN][1000 genomes]
rs7991766	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9515273	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9521905	0.82[EUR][1000 genomes]
rs9521913	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9521914	0.86[EUR][1000 genomes]
rs9521915	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9559863	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9559865	0.87[AMR][1000 genomes]
rs9588247	0.83[EUR][1000 genomes];0.82[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9521912	CARS2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111369200-111381400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr13:111370200-111379000	Weak transcription	HUVEC	blood vessel
3	chr13:111370200-111383400	Weak transcription	Right Atrium	heart
4	chr13:111370400-111379400	Weak transcription	Fetal Kidney	kidney
5	chr13:111370800-111377800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr13:111370800-111378000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr13:111370800-111379200	Weak transcription	Psoas Muscle	Psoas
8	chr13:111370800-111380200	Weak transcription	HSMM	muscle
9	chr13:111370800-111380800	Weak transcription	Hela-S3	cervix
10	chr13:111371000-111377800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr13:111371000-111377800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr13:111371600-111377800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr13:111372200-111377400	Weak transcription	Left Ventricle	heart
14	chr13:111372200-111377800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr13:111372200-111378200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr13:111372200-111379000	Weak transcription	Small Intestine	intestine
17	chr13:111372200-111379600	Weak transcription	NHLF	lung
18	chr13:111372200-111380000	Weak transcription	Gastric	stomach
19	chr13:111372200-111381600	Weak transcription	A549	lung
20	chr13:111372200-111383400	Weak transcription	Esophagus	oesophagus
21	chr13:111372200-111383600	Weak transcription	Aorta	Aorta
22	chr13:111372200-111384200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr13:111372400-111379200	Weak transcription	Lung	lung
24	chr13:111372400-111379200	Weak transcription	Pancreas	Pancrea
25	chr13:111372400-111379200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr13:111372400-111379600	Weak transcription	Brain Substantia Nigra	brain
27	chr13:111372400-111380000	Weak transcription	Colonic Mucosa	Colon
28	chr13:111372400-111381400	Weak transcription	Right Ventricle	heart
29	chr13:111372400-111381600	Weak transcription	Fetal Intestine Small	intestine
30	chr13:111372400-111382000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr13:111372400-111382400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr13:111372400-111383200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr13:111372400-111383400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr13:111372400-111384200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:111372600-111378800	Weak transcription	Primary T cells from cord blood	blood
36	chr13:111372600-111379800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr13:111372600-111380000	Weak transcription	Fetal Muscle Leg	muscle
38	chr13:111372600-111381200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr13:111373000-111379800	Weak transcription	Liver	Liver
40	chr13:111373400-111378200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr13:111373400-111379800	Weak transcription	Brain Germinal Matrix	brain
42	chr13:111373600-111377400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr13:111373600-111378400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr13:111373600-111378600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr13:111373600-111378800	Weak transcription	GM12878-XiMat	blood
46	chr13:111373600-111379000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr13:111373600-111379200	Weak transcription	Fetal Thymus	thymus
48	chr13:111373600-111379800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr13:111373600-111380000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr13:111373600-111380400	Weak transcription	Primary B cells from cord blood	blood

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