Variant report

Variant	rs7295305
Chromosome Location	chr12:12632739-12632740
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	chr12:12621139..12623205-chr12:12630638..12633247,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10743988	0.91[ASN][1000 genomes]
rs10772570	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10845552	0.86[CHB][hapmap];0.87[MEX][hapmap]
rs10845559	0.90[CHB][hapmap];0.92[CHD][hapmap];0.87[MEX][hapmap];0.92[ASN][1000 genomes]
rs10845560	1.00[CHB][hapmap];0.94[CHD][hapmap];0.87[MEX][hapmap];0.91[ASN][1000 genomes]
rs10845567	0.94[CHB][hapmap];0.91[ASN][1000 genomes]
rs10845568	0.85[CEU][hapmap]
rs10845572	0.85[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.85[MKK][hapmap];0.82[TSI][hapmap];0.82[YRI][hapmap];0.93[ASN][1000 genomes]
rs11054937	0.91[ASN][1000 genomes]
rs11054940	0.94[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.85[MKK][hapmap];0.84[TSI][hapmap];0.89[YRI][hapmap];0.97[ASN][1000 genomes]
rs11054941	1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[MEX][hapmap];0.91[ASN][1000 genomes]
rs11054942	0.83[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11054947	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11613385	0.85[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.94[ASN][1000 genomes]
rs12422540	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs1558822	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2041927	0.88[CEU][hapmap]
rs2111271	0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs2417190	1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3815591	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4255620	0.91[ASN][1000 genomes]
rs4763832	0.87[ASN][1000 genomes]
rs4763833	0.84[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7137455	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.86[MKK][hapmap];0.85[TSI][hapmap];0.82[YRI][hapmap];0.96[ASN][1000 genomes]
rs7294378	0.84[ASN][1000 genomes]
rs7295427	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7308097	0.82[YRI][hapmap]
rs7310652	0.91[ASN][1000 genomes]
rs7972902	0.84[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];0.82[MEX][hapmap];0.85[TSI][hapmap];0.90[YRI][hapmap];0.97[ASN][1000 genomes]
rs933575	0.95[CHB][hapmap];0.92[CHD][hapmap];0.87[MEX][hapmap];0.92[ASN][1000 genomes]
rs962928	1.00[CHB][hapmap];0.94[CHD][hapmap];0.87[MEX][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758295	chr12:12620654-12783124	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2759880	chr12:12620654-12783124	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers 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	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7295305	ATF7IP	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12603800-12639200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:12610800-12658000	Weak transcription	NHDF-Ad	bronchial
3	chr12:12618400-12642200	Weak transcription	Stomach Mucosa	stomach
4	chr12:12619000-12634000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:12621400-12636000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr12:12621400-12645400	Weak transcription	Small Intestine	intestine
7	chr12:12621600-12635800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr12:12621600-12646000	Weak transcription	Psoas Muscle	Psoas
9	chr12:12621600-12646200	Weak transcription	Brain Germinal Matrix	brain
10	chr12:12621800-12634000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:12622600-12653800	Weak transcription	Fetal Heart	heart
12	chr12:12624000-12638000	Weak transcription	HMEC	breast
13	chr12:12624400-12632800	Weak transcription	Primary B cells from cord blood	blood
14	chr12:12625200-12634000	Strong transcription	Fetal Intestine Small	intestine
15	chr12:12626000-12635800	Strong transcription	Fetal Intestine Large	intestine
16	chr12:12626200-12634600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr12:12626400-12639000	Strong transcription	Placenta	Placenta
18	chr12:12626600-12634400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:12626600-12636600	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:12626600-12636800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:12626600-12639200	Strong transcription	Liver	Liver
22	chr12:12626800-12633000	Strong transcription	A549	lung
23	chr12:12626800-12633600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr12:12626800-12640400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr12:12626800-12653600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:12627000-12635800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:12627000-12636000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:12627200-12634400	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr12:12627200-12635000	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr12:12627200-12636800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:12627400-12633200	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:12627400-12633400	Strong transcription	Lung	lung
33	chr12:12627400-12633600	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr12:12627400-12634600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:12627400-12636600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:12627400-12639200	Strong transcription	HepG2	liver
37	chr12:12627400-12640000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:12627600-12635600	Strong transcription	Duodenum Mucosa	Duodenum
39	chr12:12627600-12636800	Strong transcription	Adipose Nuclei	Adipose
40	chr12:12627600-12637200	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr12:12627600-12640200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:12627600-12642400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr12:12627800-12636800	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr12:12627800-12646200	Weak transcription	Fetal Brain Male	brain
45	chr12:12628000-12633600	Strong transcription	Primary T cells from cord blood	blood
46	chr12:12628000-12633600	Strong transcription	Fetal Stomach	stomach
47	chr12:12628000-12634000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr12:12628200-12636200	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr12:12628400-12633600	Genic enhancers	Brain Hippocampus Middle	brain
50	chr12:12628400-12636800	Strong transcription	Stomach Smooth Muscle	stomach

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