Variant report

Variant	rs7522071
Chromosome Location	chr1:247468429-247468430
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	chr1:247467380..247471480-chr1:247472464..247476921,4	K562	blood:
2	chr1:247461556..247465350-chr1:247467126..247471967,7	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10754545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1192833	0.82[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12023326	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12023478	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12026978	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12027522	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12034916	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12034919	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.81[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12035371	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12035515	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12047860	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12048553	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12404914	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17664745	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1771925	0.80[CEU][hapmap]
rs3850825	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.88[TSI][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56013900	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56322048	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56335231	0.89[ASN][1000 genomes]
rs56366903	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56396334	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58522562	0.86[ASN][1000 genomes]
rs6426239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6690864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6697861	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv833126	chr1:247273084-247476150	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	n/a
3	esv3411043	chr1:247382851-247517729	Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
4	esv3378684	chr1:247382994-247518438	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
5	nsv833137	chr1:247437317-247607428	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247455000-247470400	Weak transcription	Fetal Brain Male	brain
2	chr1:247456000-247493400	Weak transcription	Right Atrium	heart
3	chr1:247456600-247471400	Weak transcription	Fetal Heart	heart
4	chr1:247459800-247485800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:247460400-247493400	Strong transcription	Fetal Muscle Leg	muscle
6	chr1:247460800-247471600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:247460800-247474200	Strong transcription	Brain Germinal Matrix	brain
8	chr1:247460800-247474800	Strong transcription	Brain Cingulate Gyrus	brain
9	chr1:247460800-247476200	Weak transcription	HMEC	breast
10	chr1:247460800-247479800	Strong transcription	Fetal Brain Female	brain
11	chr1:247460800-247481000	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:247460800-247491800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:247460800-247493400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr1:247461000-247468600	Strong transcription	Right Ventricle	heart
15	chr1:247461000-247469000	Strong transcription	Brain Anterior Caudate	brain
16	chr1:247461000-247475400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:247461000-247485400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:247461200-247473600	Weak transcription	HUVEC	blood vessel
19	chr1:247461200-247485400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:247461200-247488200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:247461400-247471600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr1:247461400-247485400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:247461400-247493800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr1:247461600-247475200	Strong transcription	Aorta	Aorta
25	chr1:247461600-247481000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:247461800-247474200	Strong transcription	Stomach Smooth Muscle	stomach
27	chr1:247462000-247468600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:247462000-247468800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:247462000-247473800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:247462000-247473800	Strong transcription	Primary T cells from cord blood	blood
31	chr1:247462000-247474000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:247462000-247474000	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr1:247462200-247473800	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:247462200-247473800	Strong transcription	K562	blood
35	chr1:247462200-247480000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:247462400-247468800	Strong transcription	Liver	Liver
37	chr1:247462400-247469000	Strong transcription	Brain Angular Gyrus	brain
38	chr1:247462400-247471000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr1:247462400-247473800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr1:247462400-247474000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:247462400-247474400	Strong transcription	Dnd41	blood
42	chr1:247462400-247475600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:247462600-247470800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr1:247462600-247474000	Strong transcription	Fetal Intestine Small	intestine
45	chr1:247462600-247479200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:247462800-247473400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:247462800-247488000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:247463000-247470400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr1:247463000-247473400	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr1:247463000-247474000	Strong transcription	Muscle Satellite Cultured Cells	--

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