Variant report

Variant	rs2072247
Chromosome Location	chr7:38948595-38948596
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:12911816..12912738-chr7:38948262..38948979,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000167815	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1019065	0.88[ASN][1000 genomes]
rs10229531	0.96[CEU][hapmap];0.82[CHB][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10244302	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10244901	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10245301	0.81[AFR][1000 genomes]
rs10245322	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10245333	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10250120	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10251632	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10266910	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10269756	0.88[ASN][1000 genomes]
rs10272658	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10274968	0.81[ASN][1000 genomes]
rs10279181	0.96[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10279990	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10280140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10281823	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10951578	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11772408	0.95[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11980197	0.88[ASN][1000 genomes]
rs11980627	0.86[ASN][1000 genomes]
rs11983390	0.88[ASN][1000 genomes]
rs12535711	0.86[ASN][1000 genomes]
rs12672018	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13228087	0.86[ASN][1000 genomes]
rs17619021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17680879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2008199	0.83[ASN][1000 genomes]
rs2009277	0.88[ASN][1000 genomes]
rs2067683	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2074853	0.82[CEU][hapmap];0.85[CHB][hapmap];0.96[ASN][1000 genomes]
rs2159018	1.00[YRI][hapmap]
rs2392603	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2392604	0.88[ASN][1000 genomes]
rs2392605	0.84[ASN][1000 genomes]
rs2392606	0.84[ASN][1000 genomes]
rs2392607	0.86[ASN][1000 genomes]
rs28369620	0.88[ASN][1000 genomes]
rs28460817	0.86[ASN][1000 genomes]
rs28552512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3735346	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3779122	0.81[ASN][1000 genomes]
rs3779125	0.82[CHB][hapmap]
rs3801111	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3801113	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3801114	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3801115	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3801116	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3801119	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3801124	0.96[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3801126	0.86[ASN][1000 genomes]
rs3801127	0.86[ASN][1000 genomes]
rs3801128	0.81[ASN][1000 genomes]
rs4623319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56980069	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59626436	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59995998	0.90[ASN][1000 genomes]
rs62443565	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62443566	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62443573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62443575	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62444137	0.81[ASN][1000 genomes]
rs62444140	0.81[ASN][1000 genomes]
rs6943746	0.96[CEU][hapmap];0.82[CHB][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6945239	0.88[ASN][1000 genomes]
rs6948026	0.88[ASN][1000 genomes]
rs6955677	0.88[ASN][1000 genomes]
rs6959858	0.81[ASN][1000 genomes]
rs6960585	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6966738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6973415	0.81[CEU][hapmap];0.88[ASN][1000 genomes]
rs6974795	0.88[ASN][1000 genomes]
rs73123612	0.81[ASN][1000 genomes]
rs73127433	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73131153	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7776996	0.88[ASN][1000 genomes]
rs7782927	0.96[CEU][hapmap];0.82[CHB][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7788383	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7793692	0.81[CEU][hapmap];0.86[ASN][1000 genomes]
rs8180877	0.88[ASN][1000 genomes]
rs917320	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs917321	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs917322	0.86[ASN][1000 genomes]
rs9655397	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs982392	0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830967	chr7:38913837-39069253	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2072247	CCDC32	trans	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38947200-38949000	Active TSS	GM12878-XiMat	blood
2	chr7:38947600-38949000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:38947600-38949000	Active TSS	A549	lung
4	chr7:38947600-38949000	Active TSS	NHDF-Ad	bronchial
5	chr7:38947600-38949000	Active TSS	NHLF	lung
6	chr7:38947600-38949200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr7:38947600-38949200	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr7:38947600-38949200	Active TSS	Colon Smooth Muscle	Colon
9	chr7:38947800-38948600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:38947800-38948800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr7:38947800-38948800	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr7:38947800-38948800	Active TSS	Duodenum Mucosa	Duodenum
13	chr7:38947800-38949000	Active TSS	H1 Cell Line	embryonic stem cell
14	chr7:38947800-38949000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:38947800-38949000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:38947800-38949000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:38947800-38949000	Active TSS	Colonic Mucosa	Colon
18	chr7:38947800-38949000	Active TSS	Fetal Intestine Small	intestine
19	chr7:38947800-38949000	Active TSS	HMEC	breast
20	chr7:38947800-38949000	Active TSS	NH-A	brain
21	chr7:38947800-38949200	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr7:38947800-38949200	Active TSS	Stomach Smooth Muscle	stomach
23	chr7:38948000-38948600	Flanking Active TSS	Primary B cells from peripheral blood	blood
24	chr7:38948000-38948600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr7:38948000-38948600	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr7:38948000-38948600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr7:38948000-38948600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:38948000-38948600	Flanking Active TSS	HUVEC	blood vessel
29	chr7:38948000-38948800	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr7:38948000-38948800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr7:38948000-38948800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:38948000-38948800	Active TSS	Fetal Intestine Large	intestine
33	chr7:38948000-38948800	Active TSS	Lung	lung
34	chr7:38948000-38948800	Active TSS	Placenta Amnion	Placenta Amnion
35	chr7:38948000-38948800	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr7:38948000-38948800	Active TSS	NHEK	skin
37	chr7:38948000-38949000	Active TSS	H9 Cell Line	embryonic stem cell
38	chr7:38948000-38949000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:38948000-38949000	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr7:38948000-38949000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr7:38948000-38949000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr7:38948000-38949000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:38948000-38949000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr7:38948000-38949000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:38948000-38949000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:38948000-38949000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:38948000-38949000	Active TSS	Fetal Kidney	kidney
48	chr7:38948000-38949000	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr7:38948000-38949000	Active TSS	Placenta	Placenta
50	chr7:38948000-38949000	Active TSS	Fetal Thymus	thymus

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