Variant report

Variant	rs10278363
Chromosome Location	chr7:50836032-50836033
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50834041..50837996-chr7:50859148..50861834,4	K562	blood:
2	chr7:50835924..50838616-chr7:50888475..50890860,2	K562	blood:

Variant related genes	Relation type
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10239980	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1024529	0.81[ASN][1000 genomes]
rs10272063	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10273302	0.93[CEU][hapmap];0.93[CHB][hapmap];0.85[JPT][hapmap]
rs10486761	0.83[CEU][hapmap]
rs11238326	0.83[CEU][hapmap]
rs11238337	0.83[CEU][hapmap]
rs11238339	0.94[CEU][hapmap];0.93[CHB][hapmap];0.84[JPT][hapmap]
rs11983539	0.83[CEU][hapmap]
rs12536500	0.83[CEU][hapmap];0.88[JPT][hapmap]
rs12665949	0.93[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12718928	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17134002	0.83[CEU][hapmap];0.89[JPT][hapmap]
rs1962390	0.85[CEU][hapmap];0.88[JPT][hapmap]
rs1978208	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs2051893	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2051894	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2051897	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2074723	1.00[CHB][hapmap]
rs2301925	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2329424	0.88[CEU][hapmap];0.89[JPT][hapmap]
rs2329494	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs2715119	0.94[CEU][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes]
rs3779072	0.94[CEU][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes]
rs4947861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947873	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4947888	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6593182	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6943901	0.83[CEU][hapmap]
rs6963498	0.83[CEU][hapmap]
rs6968827	0.88[CEU][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes]
rs6971834	0.83[CEU][hapmap]
rs740155	0.86[AFR][1000 genomes]
rs7780348	0.88[JPT][hapmap]
rs7782797	0.88[CEU][hapmap];0.89[JPT][hapmap]
rs7783789	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7786917	0.83[CEU][hapmap]
rs7794164	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7794299	0.93[CEU][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7805310	1.00[CHB][hapmap]
rs7808929	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7809357	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7809362	0.87[EUR][1000 genomes];0.88[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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv824091	chr7:50828682-50885984	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50798800-50837200	Weak transcription	HSMMtube	muscle
2	chr7:50814400-50838800	Weak transcription	Adipose Nuclei	Adipose
3	chr7:50816200-50849600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr7:50820200-50843000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:50822000-50849800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:50822800-50850200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:50823600-50849200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:50823600-50849200	Weak transcription	Fetal Lung	lung
9	chr7:50824400-50843200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr7:50824800-50836400	Weak transcription	NH-A	brain
11	chr7:50826000-50839000	Weak transcription	Ovary	ovary
12	chr7:50826400-50836200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:50826600-50848400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr7:50828800-50837200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr7:50829800-50838200	Weak transcription	Aorta	Aorta
16	chr7:50829800-50838800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:50829800-50849400	Weak transcription	Osteobl	bone
18	chr7:50830200-50846400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:50830400-50848400	Weak transcription	Primary T cells from cord blood	blood
20	chr7:50831800-50837200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:50832400-50837200	Weak transcription	Fetal Stomach	stomach
22	chr7:50833200-50850200	Weak transcription	HSMM	muscle
23	chr7:50833400-50837200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:50833400-50848000	Weak transcription	Fetal Brain Female	brain
25	chr7:50833600-50838200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:50833800-50836200	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr7:50833800-50836800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:50834000-50836400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr7:50834000-50836800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr7:50834200-50837200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr7:50834400-50837600	Enhancers	K562	blood
32	chr7:50834400-50838200	Enhancers	Left Ventricle	heart
33	chr7:50834400-50838800	Weak transcription	HepG2	liver
34	chr7:50834400-50840200	Enhancers	H9 Cell Line	embryonic stem cell
35	chr7:50834600-50839000	Weak transcription	Fetal Heart	heart
36	chr7:50834600-50839000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr7:50834600-50839000	Weak transcription	Stomach Mucosa	stomach
38	chr7:50834800-50837800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:50834800-50837800	Enhancers	Spleen	Spleen
40	chr7:50834800-50838200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr7:50834800-50838400	Enhancers	H1 Cell Line	embryonic stem cell
42	chr7:50834800-50839600	Enhancers	Lung	lung
43	chr7:50834800-50839600	Enhancers	Right Atrium	heart
44	chr7:50834800-50839800	Weak transcription	Brain Germinal Matrix	brain
45	chr7:50834800-50840000	Enhancers	Pancreas	Pancrea
46	chr7:50834800-50840000	Enhancers	Right Ventricle	heart
47	chr7:50834800-50840200	Enhancers	Liver	Liver
48	chr7:50834800-50840200	Enhancers	Psoas Muscle	Psoas
49	chr7:50835000-50836200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:50835000-50836400	Weak transcription	Colon Smooth Muscle	Colon

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