Variant report

Variant	rs1076271
Chromosome Location	chr22:30791827-30791828
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:30791787-30791985	HepG2	liver:	n/a	n/a
2	POLR2A	chr22:30791787-30796585	GM12878	blood:	n/a	n/a
3	POLR2A	chr22:30791794-30792272	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30787731..30797808-chr22:30813672..30825727,31	MCF-7	breast:
2	chr22:30779604..30781335-chr22:30790630..30793179,2	MCF-7	breast:
3	chr22:30790188..30791872-chr22:30797485..30799463,2	K562	blood:
4	chr22:30781850..30784098-chr22:30791520..30793035,3	MCF-7	breast:
5	chr22:30791754..30798377-chr22:30814746..30822334,13	K562	blood:

No data

Variant related genes	Relation type
SEC14L2	TF binding region
ENSG00000273350	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000242114	Chromatin interaction
ENSG00000268538	Chromatin interaction
ENSG00000272689	Chromatin interaction
ENSG00000222915	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs1002189	0.89[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1076295	0.89[CEU][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1076296	0.88[JPT][hapmap];1.00[YRI][hapmap]
rs1076297	0.89[CEU][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1076298	0.89[CEU][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1076299	0.89[CEU][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1079227	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11705092	0.89[CEU][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11912350	0.89[CEU][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11913885	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13053375	0.89[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13053595	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13054303	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13055431	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13056326	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13057340	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13057861	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17656850	0.89[CEU][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17657174	0.89[CEU][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17657653	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17657701	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17658238	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17730485	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17730538	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17736937	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1990268	0.89[CEU][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2229807	0.89[CEU][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2240420	0.89[CEU][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2299825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28360656	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28360657	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34367123	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34995457	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35293738	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35537171	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35711436	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35782599	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4390846	0.89[CEU][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4820005	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4820006	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4820007	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4820835	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4820836	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4820838	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4820839	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4823089	0.94[CEU][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55979575	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56300819	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5749062	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5749063	0.89[CEU][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5749067	0.89[CEU][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5749075	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5749076	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5749077	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5749080	0.84[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5749081	0.85[CEU][hapmap];0.89[CHB][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5749086	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5749087	0.89[CEU][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5749088	0.85[CEU][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5753058	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5753060	0.89[CEU][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5753061	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5753069	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5753070	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5753073	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5753078	0.89[CEU][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5753082	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5753095	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5753096	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5753097	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5753101	0.89[CEU][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5753105	0.89[CEU][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5753106	0.89[CEU][hapmap];0.88[JPT][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5753110	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5753113	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753118	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs5753127	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5763928	0.89[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5763932	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61322750	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62228968	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7284531	0.88[JPT][hapmap]
rs7287175	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7287908	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7288947	0.89[CEU][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs737750	0.88[CEU][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs737751	0.89[CEU][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs737813	0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs737948	0.89[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs740084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs740220	0.89[CEU][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs740222	0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs740223	0.89[CEU][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs757868	0.89[CEU][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8136826	0.88[AMR][1000 genomes];0.89[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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1076271	RNF215	cis	Heart Left Ventricle	GTEx
rs1076271	RP1-130H16.16	cis	Thyroid	GTEx
rs1076271	RP1-130H16.16	cis	lung	GTEx

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30783800-30792000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr22:30783800-30792200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr22:30783800-30792400	Weak transcription	Fetal Brain Male	brain
4	chr22:30783800-30792400	Weak transcription	Fetal Lung	lung
5	chr22:30783800-30792600	Weak transcription	Esophagus	oesophagus
6	chr22:30783800-30792600	Weak transcription	Fetal Brain Female	brain
7	chr22:30783800-30792600	Weak transcription	Fetal Kidney	kidney
8	chr22:30783800-30792600	Weak transcription	Pancreas	Pancrea
9	chr22:30783800-30792600	Weak transcription	Right Atrium	heart
10	chr22:30783800-30793000	Weak transcription	Gastric	stomach
11	chr22:30787400-30792600	Enhancers	Liver	Liver
12	chr22:30787600-30792000	Weak transcription	HMEC	breast
13	chr22:30787600-30792200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr22:30787600-30792400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr22:30787600-30792600	Enhancers	Fetal Thymus	thymus
16	chr22:30787800-30792200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr22:30787800-30792400	Weak transcription	Brain Anterior Caudate	brain
18	chr22:30787800-30792400	Weak transcription	HSMM	muscle
19	chr22:30787800-30792400	Weak transcription	NHEK	skin
20	chr22:30787800-30792600	Weak transcription	Brain Angular Gyrus	brain
21	chr22:30787800-30792600	Weak transcription	Brain Substantia Nigra	brain
22	chr22:30787800-30792600	Weak transcription	HSMMtube	muscle
23	chr22:30787800-30792600	Weak transcription	HUVEC	blood vessel
24	chr22:30787800-30792600	Weak transcription	NHLF	lung
25	chr22:30787800-30792600	Weak transcription	Osteobl	bone
26	chr22:30788000-30792000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr22:30788000-30792400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr22:30788000-30792400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr22:30788000-30792400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr22:30788000-30792600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr22:30788000-30792600	Weak transcription	NH-A	brain
32	chr22:30789000-30792000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr22:30789000-30792000	Weak transcription	Brain Hippocampus Middle	brain
34	chr22:30789200-30792000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr22:30789200-30792400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr22:30789200-30792400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr22:30789200-30792600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr22:30789200-30793600	Weak transcription	K562	blood
39	chr22:30789400-30792800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr22:30789600-30792000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr22:30789600-30792200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr22:30789600-30792400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr22:30789600-30792400	Weak transcription	Thymus	Thymus
44	chr22:30789600-30792600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr22:30789800-30792000	Weak transcription	Primary T cells from cord blood	blood
46	chr22:30789800-30792000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr22:30789800-30792000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr22:30789800-30792600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr22:30790000-30792000	Weak transcription	Lung	lung
50	chr22:30790000-30792400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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