Variant report

Variant	rs10240601
Chromosome Location	chr7:101556109-101556110
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	chr7:101457026..101461124-chr7:101554455..101559051,6	MCF-7	breast:
2	chr7:101556089..101558949-chr7:101559230..101562198,4	K562	blood:

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10081174	0.99[EUR][1000 genomes]
rs10226289	0.92[EUR][1000 genomes]
rs10227516	0.99[EUR][1000 genomes]
rs10241905	0.99[EUR][1000 genomes]
rs10242019	0.93[EUR][1000 genomes]
rs10255356	0.92[EUR][1000 genomes]
rs10256232	0.99[EUR][1000 genomes]
rs10259103	0.99[EUR][1000 genomes]
rs10259964	0.92[EUR][1000 genomes]
rs10261524	0.92[EUR][1000 genomes]
rs10264844	0.92[EUR][1000 genomes]
rs10264855	0.92[EUR][1000 genomes]
rs10264866	0.92[EUR][1000 genomes]
rs10271171	0.92[EUR][1000 genomes]
rs10271610	0.99[EUR][1000 genomes]
rs10271838	0.99[EUR][1000 genomes]
rs10279763	0.99[EUR][1000 genomes]
rs12532535	0.99[EUR][1000 genomes]
rs12534641	0.90[EUR][1000 genomes]
rs13227531	0.92[EUR][1000 genomes]
rs13229243	0.99[EUR][1000 genomes]
rs13236072	0.99[EUR][1000 genomes]
rs13241252	0.97[EUR][1000 genomes]
rs34750675	0.92[EUR][1000 genomes]
rs35065711	0.99[EUR][1000 genomes]
rs4729759	0.92[EUR][1000 genomes]
rs4729760	0.96[EUR][1000 genomes]
rs55824493	0.96[EUR][1000 genomes]
rs60656667	0.99[EUR][1000 genomes]
rs72603510	0.92[EUR][1000 genomes]
rs72603511	0.99[EUR][1000 genomes]
rs72603512	0.99[EUR][1000 genomes]
rs9656073	0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv482846	chr7:101539981-101707666	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101530600-101559800	Weak transcription	GM12878-XiMat	blood
2	chr7:101533800-101559000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:101537600-101559000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr7:101540200-101559200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:101540400-101559200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:101542600-101558000	Weak transcription	Dnd41	blood
7	chr7:101544000-101558200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:101544000-101569800	Weak transcription	HMEC	breast
9	chr7:101544200-101559200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:101544200-101559400	Weak transcription	NHEK	skin
11	chr7:101544200-101579800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:101544400-101556600	Weak transcription	Brain Hippocampus Middle	brain
13	chr7:101544600-101556600	Weak transcription	Brain Germinal Matrix	brain
14	chr7:101545800-101557000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:101546600-101556600	Weak transcription	Aorta	Aorta
16	chr7:101548800-101558800	Weak transcription	Primary B cells from cord blood	blood
17	chr7:101548800-101559400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr7:101551400-101559200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr7:101552000-101558400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr7:101552800-101557600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:101553000-101556600	Enhancers	Ovary	ovary
22	chr7:101553000-101557200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr7:101553400-101557200	Enhancers	Placenta	Placenta
24	chr7:101553800-101557400	Enhancers	Fetal Muscle Trunk	muscle
25	chr7:101554200-101556400	Enhancers	Stomach Smooth Muscle	stomach
26	chr7:101554200-101556600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:101554200-101556800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:101554200-101557000	Enhancers	Fetal Lung	lung
29	chr7:101554200-101557200	Enhancers	Fetal Heart	heart
30	chr7:101554200-101557200	Enhancers	Right Atrium	heart
31	chr7:101554400-101556400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:101554400-101556800	Enhancers	Pancreas	Pancrea
33	chr7:101554400-101557000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr7:101554400-101557000	Enhancers	Left Ventricle	heart
35	chr7:101554400-101558600	Enhancers	Psoas Muscle	Psoas
36	chr7:101554600-101557400	Enhancers	Fetal Intestine Large	intestine
37	chr7:101554600-101557400	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr7:101554600-101557800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr7:101554800-101556200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr7:101554800-101556800	Weak transcription	Colonic Mucosa	Colon
41	chr7:101554800-101558600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr7:101554800-101561400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:101555000-101556200	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr7:101555000-101556200	Enhancers	Muscle Satellite Cultured Cells	--
45	chr7:101555000-101556400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:101555000-101557400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr7:101555000-101557400	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr7:101555000-101557600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr7:101555000-101557600	Enhancers	Fetal Thymus	thymus
50	chr7:101555000-101559000	Weak transcription	Esophagus	oesophagus

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