Variant report

Variant	rs2413031
Chromosome Location	chr22:31561022-31561023
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1034588	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1034589	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1858821	0.80[EUR][1000 genomes]
rs2079431	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2283879	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2283881	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2413032	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2413033	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2413034	0.83[EUR][1000 genomes]
rs2413035	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4141404	0.80[EUR][1000 genomes]
rs4299418	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4820042	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4820951	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5749224	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5749229	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5753500	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5753505	0.83[AMR][1000 genomes]
rs5753507	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs5753521	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs5997902	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5997912	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5997913	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5997939	0.80[EUR][1000 genomes]
rs737888	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8135347	0.90[AMR][1000 genomes];0.84[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	nsv459871	chr22:31551160-31680624	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv588893	chr22:31551160-31680624	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1067003	chr22:31558663-31697093	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2413031	DRG1	Cis_1M	lymphoblastoid	RTeQTL
rs2413031	SFI1	cis	Thyroid	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31557000-31569400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr22:31557000-31573000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:31557000-31575200	Weak transcription	Esophagus	oesophagus
4	chr22:31557200-31561400	Weak transcription	Fetal Thymus	thymus
5	chr22:31557200-31568800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr22:31557200-31569400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr22:31557200-31591200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr22:31557400-31561400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr22:31557400-31561600	Weak transcription	Lung	lung
10	chr22:31557400-31562200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr22:31557400-31565800	Weak transcription	Spleen	Spleen
12	chr22:31557400-31569200	Weak transcription	A549	lung
13	chr22:31557400-31575000	Weak transcription	Gastric	stomach
14	chr22:31557400-31579800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr22:31557400-31595200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr22:31557400-31597800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr22:31557600-31561200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr22:31557600-31561400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr22:31557600-31564600	Weak transcription	Right Ventricle	heart
20	chr22:31557600-31575000	Weak transcription	Colonic Mucosa	Colon
21	chr22:31557600-31578600	Weak transcription	K562	blood
22	chr22:31557600-31591800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr22:31557800-31561400	Weak transcription	Fetal Brain Female	brain
24	chr22:31557800-31561400	Weak transcription	GM12878-XiMat	blood
25	chr22:31557800-31564000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr22:31557800-31564200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr22:31557800-31568800	Weak transcription	Hela-S3	cervix
28	chr22:31557800-31569400	Weak transcription	Ovary	ovary
29	chr22:31557800-31587000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr22:31557800-31588400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr22:31558000-31578000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr22:31558200-31561200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr22:31558200-31563600	Weak transcription	Right Atrium	heart
34	chr22:31558200-31564200	Weak transcription	Brain Anterior Caudate	brain
35	chr22:31558200-31565000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr22:31558200-31573000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr22:31558200-31575000	Weak transcription	Stomach Mucosa	stomach
38	chr22:31558400-31561200	Weak transcription	Primary B cells from cord blood	blood
39	chr22:31558400-31564000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr22:31558400-31568800	Weak transcription	HMEC	breast
41	chr22:31558400-31569200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr22:31558400-31573000	Weak transcription	Fetal Heart	heart
43	chr22:31558600-31561200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr22:31558600-31561200	Weak transcription	Brain Angular Gyrus	brain
45	chr22:31558600-31561200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr22:31558600-31561200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr22:31558600-31563800	Weak transcription	Brain Substantia Nigra	brain
48	chr22:31558600-31565800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr22:31558600-31583000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr22:31558600-31591400	Weak transcription	Primary hematopoietic stem cells	blood

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