Variant report

Variant	rs6518737
Chromosome Location	chr22:31582662-31582663
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	chr22:31582003..31584515-chr22:31685360..31688125,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100100	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11703927	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11913992	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12166373	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs131209	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs131213	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs140074	0.82[CHB][hapmap]
rs28715	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs34873968	0.82[ASN][1000 genomes]
rs4820948	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820961	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs4820969	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5749222	0.91[EUR][1000 genomes]
rs5753486	0.83[EUR][1000 genomes]
rs5994376	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.92[MKK][hapmap];0.80[YRI][hapmap];0.86[ASN][1000 genomes]
rs5997887	0.81[ASN][1000 genomes]
rs5997893	0.88[CEU][hapmap];0.83[GIH][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes]
rs5997896	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997897	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997900	0.82[ASN][1000 genomes]
rs5997919	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs5997929	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs713947	0.85[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs7285171	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7286648	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs7287402	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs7288735	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs739427	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs8135417	0.88[CEU][hapmap];0.83[GIH][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes]
rs9621216	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9621221	1.00[CHB][hapmap];1.00[JPT][hapmap]

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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6518737	DRG1	Cis_1M	lymphoblastoid	RTeQTL
rs6518737	SFI1	cis	cerebellum	SCAN
rs6518737	PISD	cis	cerebellum	SCAN
rs6518737	MN1	cis	parietal	SCAN
rs6518737	CRYBB1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31557200-31591200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr22:31557400-31595200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr22:31557400-31597800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr22:31557600-31591800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr22:31557800-31587000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr22:31557800-31588400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr22:31558600-31583000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr22:31558600-31591400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr22:31558800-31591200	Weak transcription	Fetal Brain Male	brain
10	chr22:31558800-31606000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr22:31562400-31583200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr22:31566200-31583000	Weak transcription	Brain Angular Gyrus	brain
13	chr22:31566400-31583000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr22:31569600-31583200	Weak transcription	Brain Anterior Caudate	brain
15	chr22:31569800-31583000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr22:31569800-31591600	Weak transcription	Small Intestine	intestine
17	chr22:31570000-31606400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr22:31570200-31583000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr22:31570400-31583000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr22:31570400-31586800	Strong transcription	Fetal Stomach	stomach
21	chr22:31570400-31597800	Weak transcription	HUVEC	blood vessel
22	chr22:31571800-31582800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr22:31572200-31600000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr22:31573600-31583000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr22:31573600-31583000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr22:31574000-31583200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr22:31574200-31590800	Weak transcription	Brain Substantia Nigra	brain
28	chr22:31574400-31601600	Weak transcription	Fetal Heart	heart
29	chr22:31574600-31583200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr22:31574800-31583000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr22:31574800-31587200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr22:31575400-31582800	Weak transcription	Thymus	Thymus
33	chr22:31575800-31583000	Weak transcription	Adipose Nuclei	Adipose
34	chr22:31575800-31583000	Weak transcription	Aorta	Aorta
35	chr22:31575800-31583000	Weak transcription	HepG2	liver
36	chr22:31575800-31588600	Weak transcription	Colon Smooth Muscle	Colon
37	chr22:31575800-31588600	Weak transcription	NHLF	lung
38	chr22:31575800-31591600	Weak transcription	NH-A	brain
39	chr22:31575800-31602600	Weak transcription	Stomach Mucosa	stomach
40	chr22:31575800-31607600	Weak transcription	Hela-S3	cervix
41	chr22:31576000-31582800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr22:31576000-31582800	Weak transcription	Left Ventricle	heart
43	chr22:31576000-31582800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr22:31576000-31583000	Weak transcription	Colonic Mucosa	Colon
45	chr22:31576000-31583000	Weak transcription	Esophagus	oesophagus
46	chr22:31576000-31583000	Weak transcription	Gastric	stomach
47	chr22:31576000-31583000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr22:31576000-31583000	Weak transcription	Psoas Muscle	Psoas
49	chr22:31576000-31583000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr22:31576000-31583000	Weak transcription	GM12878-XiMat	blood

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