Variant report

Variant	rs7285619
Chromosome Location	chr22:31842554-31842555
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:31836635-31847259..22:31936958-31958600	GM12878	blood:
2	chr22:31831980..31833973-chr22:31840875..31843201,2	MCF-7	breast:
3	chr22:31793416..31795998-chr22:31841397..31844290,2	MCF-7	breast:
4	22:31836635-31847259..22:32529813-32538538	K562	blood:
5	chr22:31840511..31842559-chr22:31842977..31844692,2	MCF-7	breast:
6	chr22:31841016..31842621-chr22:31845708..31848427,2	MCF-7	breast:
7	22:31836635-31847259..22:32284948-32287956	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000232707	Chromatin interaction
ENSG00000239674	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000227813	Chromatin interaction
ENSG00000185721	Chromatin interaction
ENSG00000214093	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1001599	0.82[EUR][1000 genomes]
rs13057504	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1858821	0.95[CEU][hapmap];0.91[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap]
rs1968023	1.00[LWK][hapmap]
rs2040533	0.95[CEU][hapmap]
rs2073857	0.95[CEU][hapmap];0.91[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap]
rs2078803	0.95[CEU][hapmap]
rs2106294	0.95[CEU][hapmap];0.91[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap]
rs2228619	0.95[CEU][hapmap]
rs2273249	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2273251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2413045	1.00[MKK][hapmap]
rs2899164	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34538851	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs34545960	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4141404	0.95[CEU][hapmap];0.91[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap]
rs4603880	0.95[CEU][hapmap];0.88[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap]
rs4820043	0.95[CEU][hapmap];0.91[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap]
rs4820963	0.95[CEU][hapmap]
rs5749265	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5749267	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5749268	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5749270	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5749283	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs5749286	0.82[ASW][hapmap];0.80[CEU][hapmap];0.91[CHB][hapmap];0.82[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs5749291	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs5749298	1.00[ASW][hapmap];0.80[CEU][hapmap];0.82[CHB][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap]
rs5753543	0.95[CEU][hapmap]
rs5753597	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5753601	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5753609	0.95[CEU][hapmap];0.81[GIH][hapmap];0.82[JPT][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs5753610	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5753612	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5753613	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5753615	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753618	1.00[CHB][hapmap];0.98[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs5753621	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5753623	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs5753628	0.85[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753631	0.85[CHB][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753632	1.00[CEU][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs5753638	0.83[CHB][hapmap]
rs5753639	1.00[CEU][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs5753648	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5753659	0.91[CHB][hapmap];0.86[JPT][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs5753661	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs5753664	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs5753665	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs5753666	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs5753669	0.82[ASW][hapmap];0.80[CEU][hapmap];0.91[CHB][hapmap];0.82[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs5753671	0.82[ASW][hapmap];0.80[CEU][hapmap];0.91[CHB][hapmap];0.82[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs5753698	1.00[ASW][hapmap];0.80[CEU][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap]
rs5753723	1.00[LWK][hapmap];1.00[MKK][hapmap]
rs5994394	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5998058	1.00[ASW][hapmap];0.80[CEU][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap]
rs714909	0.95[CEU][hapmap];0.91[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap]
rs715510	0.95[CEU][hapmap]
rs7284622	0.80[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7293171	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs737684	0.95[CEU][hapmap]
rs737887	0.95[CEU][hapmap];0.91[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap]
rs738657	1.00[CEU][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8138525	1.00[ASW][hapmap];0.80[CEU][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap]
rs8138596	0.80[EUR][1000 genomes]
rs8139625	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8141150	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8142121	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9606830	0.95[CEU][hapmap]
rs9606839	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9606843	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9606846	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9606847	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9606848	0.82[ASW][hapmap];0.91[CHB][hapmap];0.82[CHD][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9606852	0.82[AMR][1000 genomes]
rs9609264	0.95[CEU][hapmap]
rs9609276	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9609277	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9609286	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9609295	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9609296	0.80[CEU][hapmap];0.91[CHB][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes]
rs9609297	0.80[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9609299	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9609301	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9609303	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9609304	0.82[ASW][hapmap];0.80[CEU][hapmap];0.91[CHB][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9609329	0.80[CEU][hapmap];0.82[JPT][hapmap]

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	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	nsv1063634	chr22:31797004-31921254	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	nsv459872	chr22:31833759-31977594	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv588894	chr22:31833759-31977594	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7285619	DRG1	Cis_1M	lymphoblastoid	RTeQTL
rs7285619	PISD	cis	cerebellum	SCAN
rs7285619	SFI1	cis	Thyroid	GTEx
rs7285619	MN1	cis	parietal	SCAN
rs7285619	SFI1	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31797000-31884400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:31797000-31884400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr22:31797200-31845400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr22:31797200-31846200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr22:31797200-31846400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr22:31797200-31860600	Strong transcription	Fetal Stomach	stomach
7	chr22:31797400-31846800	Strong transcription	Duodenum Mucosa	Duodenum
8	chr22:31797800-31844800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr22:31797800-31846800	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr22:31799000-31845400	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr22:31799200-31846600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr22:31803600-31844600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr22:31804600-31847000	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr22:31805000-31844800	Strong transcription	Primary B cells from peripheral blood	blood
15	chr22:31805600-31844800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr22:31813600-31845000	Strong transcription	Fetal Thymus	thymus
17	chr22:31814000-31846400	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr22:31814200-31846800	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr22:31814400-31845600	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr22:31814400-31845800	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr22:31814400-31846800	Strong transcription	Fetal Intestine Large	intestine
22	chr22:31814800-31844600	Strong transcription	Thymus	Thymus
23	chr22:31814800-31846600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr22:31815000-31844600	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr22:31815000-31846600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr22:31815000-31846800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr22:31815000-31868200	Strong transcription	Dnd41	blood
28	chr22:31815000-31883400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr22:31815400-31844400	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr22:31815400-31844400	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr22:31815400-31846200	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr22:31815400-31846600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr22:31815400-31846600	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr22:31815600-31844200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr22:31821000-31844600	Strong transcription	Primary B cells from cord blood	blood
36	chr22:31821000-31845000	Strong transcription	Primary T cells from cord blood	blood
37	chr22:31821200-31844600	Strong transcription	Fetal Brain Female	brain
38	chr22:31822200-31846600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr22:31822400-31859800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr22:31823600-31884600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr22:31826600-31846400	Strong transcription	Brain Germinal Matrix	brain
42	chr22:31827200-31846600	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr22:31827600-31846600	Strong transcription	Osteobl	bone
44	chr22:31828800-31843800	Strong transcription	Colon Smooth Muscle	Colon
45	chr22:31828800-31845000	Strong transcription	NHLF	lung
46	chr22:31828800-31845600	Strong transcription	GM12878-XiMat	blood
47	chr22:31829000-31844800	Strong transcription	Primary hematopoietic stem cells	blood
48	chr22:31829400-31843000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
49	chr22:31829400-31844400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr22:31829600-31846400	Strong transcription	Brain Substantia Nigra	brain

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