Variant report

Variant	rs7299276
Chromosome Location	chr12:49074303-49074304
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr12:49073770-49074335	K562	blood:	n/a	n/a
2	POLR2A	chr12:49073617-49074832	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:49073695-49074390	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr12:49074047-49074349	MCF-7	breast:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49073658..49078597-chr12:49201352..49212442,12	MCF-7	breast:
2	chr12:49074245..49078609-chr12:49180778..49182867,4	MCF-7	breast:
3	chr12:49072667..49077768-chr12:49107571..49112359,8	MCF-7	breast:
4	chr12:49072707..49077771-chr12:49103757..49111723,15	MCF-7	breast:
5	chr12:49059501..49061624-chr12:49071853..49074328,2	K562	blood:
6	chr12:49052583..49059422-chr12:49071692..49076510,9	K562	blood:
7	chr12:49073851..49077506-chr12:49084529..49091835,9	MCF-7	breast:
8	chr12:49052650..49057544-chr12:49071692..49076123,6	K562	blood:
9	chr12:49072639..49079132-chr12:49108469..49112073,12	K562	blood:
10	chr12:49073439..49079132-chr12:49108039..49112179,15	K562	blood:
11	chr12:49049997..49051694-chr12:49071950..49074374,2	K562	blood:

No data

Variant related genes	Relation type
KANSL2	TF binding region
ENSG00000207313	Chromatin interaction
ENSG00000207467	Chromatin interaction
ENSG00000174233	Chromatin interaction
ENSG00000129315	Chromatin interaction
ENSG00000167535	Chromatin interaction
ENSG00000139620	Chromatin interaction
ENSG00000206612	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10747554	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10783273	0.91[ASN][1000 genomes]
rs10783274	0.87[ASN][1000 genomes]
rs10783275	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10783277	0.81[EUR][1000 genomes]
rs10783278	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10783281	0.86[EUR][1000 genomes]
rs10875850	0.92[ASN][1000 genomes]
rs10875852	0.97[ASN][1000 genomes]
rs10875853	0.97[ASN][1000 genomes]
rs10875861	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10875862	0.93[ASN][1000 genomes]
rs1110432	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11168657	0.90[ASN][1000 genomes]
rs11168665	0.97[ASN][1000 genomes]
rs11168674	0.95[ASN][1000 genomes]
rs11168697	0.85[ASN][1000 genomes]
rs11168698	0.91[ASN][1000 genomes]
rs12299955	0.89[ASN][1000 genomes]
rs12426435	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1316514	0.91[ASN][1000 genomes]
rs1863541	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1895995	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2114320	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2162317	0.94[ASN][1000 genomes]
rs2277365	0.99[ASN][1000 genomes]
rs2277366	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2291728	0.91[ASN][1000 genomes]
rs2409085	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2898087	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3209584	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35717253	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3741628	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3741629	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3741630	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3741632	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3803025	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3943899	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4113946	0.92[ASN][1000 genomes]
rs4500528	0.97[ASN][1000 genomes]
rs4760735	0.92[ASN][1000 genomes]
rs4760737	0.93[ASN][1000 genomes]
rs4760739	0.91[ASN][1000 genomes]
rs4760740	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580689	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6580690	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6580692	0.81[EUR][1000 genomes]
rs6580693	0.89[EUR][1000 genomes]
rs7136021	0.81[ASN][1000 genomes]
rs7138190	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7139236	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304711	0.92[ASN][1000 genomes]
rs7305907	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7306604	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7308699	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7314665	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7954446	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7964546	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7966065	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7973824	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7974151	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7974625	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7975030	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9332441	0.96[ASN][1000 genomes]
rs9634241	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9634242	0.97[ASN][1000 genomes]
rs9634262	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[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	esv3332169	chr12:49005807-49150691	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
2	nsv519053	chr12:49065727-49079470	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7299276	WNT10B	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49065800-49074600	Weak transcription	Aorta	Aorta
2	chr12:49066400-49075000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:49070400-49075000	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr12:49070600-49074600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
5	chr12:49070800-49074400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
6	chr12:49070800-49075000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr12:49071000-49074600	Genic enhancers	Colon Smooth Muscle	Colon
8	chr12:49071200-49074400	Transcr. at gene 5' and 3'	Hela-S3	cervix
9	chr12:49071200-49074800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:49071600-49074400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:49071600-49074400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:49071600-49074800	Genic enhancers	Osteobl	bone
13	chr12:49071800-49074400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:49071800-49074400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:49071800-49074400	Genic enhancers	Fetal Lung	lung
16	chr12:49071800-49074600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
17	chr12:49071800-49074800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:49072000-49074400	Transcr. at gene 5' and 3'	A549	lung
19	chr12:49072000-49074600	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
20	chr12:49072000-49075000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr12:49072200-49074800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:49072400-49074400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
23	chr12:49072400-49074400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:49072400-49074400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
25	chr12:49072400-49074400	Genic enhancers	Placenta	Placenta
26	chr12:49072400-49074400	Transcr. at gene 5' and 3'	NHEK	skin
27	chr12:49072400-49074600	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
28	chr12:49072400-49074600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
29	chr12:49072400-49074600	Transcr. at gene 5' and 3'	HUVEC	blood vessel
30	chr12:49072400-49074800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:49072400-49074800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr12:49072400-49075600	Transcr. at gene 5' and 3'	Dnd41	blood
33	chr12:49072600-49074400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
34	chr12:49072600-49074400	Genic enhancers	Colonic Mucosa	Colon
35	chr12:49072600-49074600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:49072600-49074800	Genic enhancers	Primary B cells from peripheral blood	blood
37	chr12:49072600-49074800	Genic enhancers	Thymus	Thymus
38	chr12:49072800-49074400	Genic enhancers	Esophagus	oesophagus
39	chr12:49072800-49074400	Genic enhancers	Pancreas	Pancrea
40	chr12:49072800-49074600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:49072800-49074600	Genic enhancers	Fetal Muscle Leg	muscle
42	chr12:49072800-49074600	Genic enhancers	Fetal Thymus	thymus
43	chr12:49072800-49074800	Genic enhancers	Fetal Stomach	stomach
44	chr12:49072800-49075400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
45	chr12:49073000-49074800	Weak transcription	Fetal Kidney	kidney
46	chr12:49073000-49075000	Enhancers	Primary hematopoietic stem cells	blood
47	chr12:49073200-49074400	Transcr. at gene 5' and 3'	HSMM	muscle
48	chr12:49073200-49074800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr12:49073400-49074400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr12:49073400-49074600	Genic enhancers	Fetal Intestine Small	intestine

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