Variant report

Variant	rs4245615
Chromosome Location	chr10:45484308-45484309
allele	C/T
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	CEBPB	chr10:45484282-45484459	HepG2	liver:	n/a	n/a
2	POLR2A	chr10:45483869-45484311	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:45452890..45456408-chr10:45484181..45487033,3	MCF-7	breast:
2	chr10:45479279..45482173-chr10:45482944..45485602,3	K562	blood:
3	chr10:45426643..45429443-chr10:45484154..45486322,2	MCF-7	breast:

Variant related genes	Relation type
RASSF4	TF binding region
ENSG00000273363	Chromatin interaction
ENSG00000187783	Chromatin interaction
ENSG00000107551	Chromatin interaction
ENSG00000224812	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs3740098	0.84[GIH][hapmap]
rs3758402	0.86[CEU][hapmap];0.85[GIH][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes]
rs72780684	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7896801	0.82[CEU][hapmap]
rs869156	0.95[CEU][hapmap];0.90[CHD][hapmap];0.89[GIH][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs883733	0.84[ASN][1000 genomes]
rs883734	0.80[CEU][hapmap]
rs883735	0.84[GIH][hapmap]
rs914700	0.84[GIH][hapmap]

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	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv526734	chr10:45458485-45492054	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4245615	GDF2	cis	cerebellum	SCAN

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45474400-45490800	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr10:45474400-45490800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr10:45474800-45490200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr10:45475000-45485000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr10:45476200-45484600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr10:45476800-45484600	Weak transcription	Fetal Thymus	thymus
7	chr10:45476800-45487400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr10:45476800-45491400	Weak transcription	Fetal Kidney	kidney
9	chr10:45477400-45487400	Weak transcription	Fetal Intestine Large	intestine
10	chr10:45477800-45488200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr10:45477800-45489400	Strong transcription	Duodenum Mucosa	Duodenum
12	chr10:45478000-45486400	Weak transcription	Colonic Mucosa	Colon
13	chr10:45478200-45487600	Weak transcription	Psoas Muscle	Psoas
14	chr10:45478400-45486600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr10:45478400-45489000	Weak transcription	NHDF-Ad	bronchial
16	chr10:45478800-45489200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr10:45478800-45495800	Weak transcription	HMEC	breast
18	chr10:45479800-45485800	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr10:45480600-45485200	Strong transcription	HSMM	muscle
20	chr10:45480800-45484800	Weak transcription	Liver	Liver
21	chr10:45480800-45487400	Weak transcription	Gastric	stomach
22	chr10:45480800-45489400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr10:45481200-45484600	Weak transcription	Esophagus	oesophagus
24	chr10:45481200-45484800	Strong transcription	Fetal Muscle Trunk	muscle
25	chr10:45481200-45485200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr10:45481200-45485200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr10:45481200-45485600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr10:45481200-45486000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr10:45481200-45489200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr10:45481400-45484400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr10:45481400-45484800	Weak transcription	Placenta	Placenta
32	chr10:45481400-45484800	Weak transcription	Lung	lung
33	chr10:45481400-45485400	Weak transcription	Stomach Mucosa	stomach
34	chr10:45481600-45485200	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr10:45481600-45486600	Weak transcription	Brain Germinal Matrix	brain
36	chr10:45482000-45484400	Strong transcription	Fetal Muscle Leg	muscle
37	chr10:45482000-45484600	Strong transcription	Brain Angular Gyrus	brain
38	chr10:45482000-45484800	Weak transcription	Colon Smooth Muscle	Colon
39	chr10:45482000-45485600	Weak transcription	Fetal Stomach	stomach
40	chr10:45482000-45486400	Strong transcription	Brain Hippocampus Middle	brain
41	chr10:45482000-45488400	Strong transcription	HSMMtube	muscle
42	chr10:45482000-45489200	Weak transcription	HUVEC	blood vessel
43	chr10:45482200-45485600	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr10:45482200-45485800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr10:45482200-45490800	Weak transcription	GM12878-XiMat	blood
46	chr10:45482200-45491200	Weak transcription	Fetal Lung	lung
47	chr10:45482400-45484600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr10:45482400-45485000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr10:45482400-45485200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr10:45482400-45485200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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