Variant report

Variant	rs12522805
Chromosome Location	chr5:68396580-68396581
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:68396103-68396687	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:68394864..68397048-chr5:68401666..68403726,2	MCF-7	breast:
2	chr5:68389176..68392363-chr5:68393706..68396826,5	MCF-7	breast:
3	chr5:68393903..68396634-chr5:68411283..68414214,2	K562	blood:

Variant related genes	Relation type
SLC30A5	TF binding region
ENSG00000145740	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10454824	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10940199	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11743118	0.86[ASN][1000 genomes]
rs12519270	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13185437	0.94[ASN][1000 genomes]
rs16898486	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16898499	1.00[CEU][hapmap];0.84[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.94[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4976217	0.92[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs58151499	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58575768	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59734653	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67722222	0.96[ASN][1000 genomes]
rs7718228	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7719198	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7719482	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7733034	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv3391099	chr5:68377245-68400350	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	nsv881765	chr5:68379836-68448694	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12522805	ENSG00000145740	cis	multi-tissue	Pritchard

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68390600-68405600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:68390800-68405200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:68391000-68398800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:68391000-68399000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr5:68391000-68399000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr5:68391000-68399000	Weak transcription	NHDF-Ad	bronchial
7	chr5:68391000-68399200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:68391000-68399200	Weak transcription	Fetal Kidney	kidney
9	chr5:68391000-68400600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:68391000-68401000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:68391000-68401000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr5:68391000-68402800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr5:68391000-68403000	Weak transcription	HSMMtube	muscle
14	chr5:68391000-68415200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr5:68391200-68398800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:68391200-68399000	Weak transcription	Brain Angular Gyrus	brain
17	chr5:68391200-68399200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr5:68391200-68401200	Weak transcription	Right Ventricle	heart
19	chr5:68391200-68402600	Weak transcription	Brain Hippocampus Middle	brain
20	chr5:68391200-68405600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:68391200-68405600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr5:68391200-68405600	Weak transcription	Psoas Muscle	Psoas
23	chr5:68391400-68398000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:68391400-68398600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:68391400-68398800	Strong transcription	Fetal Stomach	stomach
26	chr5:68391400-68398800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr5:68391400-68399000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr5:68391400-68399000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr5:68391400-68399000	Weak transcription	HSMM	muscle
30	chr5:68391400-68399000	Weak transcription	NHEK	skin
31	chr5:68391400-68399200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr5:68391400-68399200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:68391400-68399200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr5:68391400-68401000	Weak transcription	Fetal Brain Female	brain
35	chr5:68391400-68401200	Weak transcription	Gastric	stomach
36	chr5:68391400-68401400	Weak transcription	Spleen	Spleen
37	chr5:68391400-68401600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr5:68391400-68402000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:68391400-68402600	Weak transcription	Brain Substantia Nigra	brain
40	chr5:68391400-68415800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:68391400-68428800	Weak transcription	Stomach Mucosa	stomach
42	chr5:68391400-68431200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr5:68391600-68398000	Weak transcription	Colonic Mucosa	Colon
44	chr5:68391600-68399000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:68391600-68399000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr5:68391600-68399200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:68391600-68399200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr5:68391600-68400800	Weak transcription	Primary B cells from cord blood	blood
49	chr5:68391600-68400800	Weak transcription	Fetal Lung	lung
50	chr5:68392000-68396600	Strong transcription	Fetal Intestine Large	intestine

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