Variant report

Variant	rs7706235
Chromosome Location	chr5:107702661-107702662
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:107700578..107705838-chr5:107715421..107718628,5	K562	blood:

Variant related genes	Relation type
ENSG00000145743	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs11240963	1.00[EUR][1000 genomes]
rs2416527	1.00[AMR][1000 genomes]
rs28513512	1.00[AMR][1000 genomes]
rs55825519	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56024626	1.00[AMR][1000 genomes]
rs56355836	1.00[EUR][1000 genomes]
rs56902538	0.83[AMR][1000 genomes]
rs56929525	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57269490	1.00[AMR][1000 genomes]
rs57354704	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57911118	1.00[AMR][1000 genomes]
rs58040806	0.83[AMR][1000 genomes]
rs58537065	1.00[AMR][1000 genomes]
rs58899755	1.00[AMR][1000 genomes]
rs59260333	1.00[AMR][1000 genomes]
rs59704928	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60042566	1.00[EUR][1000 genomes]
rs60212774	1.00[AMR][1000 genomes]
rs60381359	0.83[AMR][1000 genomes]
rs61096927	1.00[AMR][1000 genomes]
rs61201760	1.00[AMR][1000 genomes]
rs61614616	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6594302	1.00[EUR][1000 genomes]
rs6861104	1.00[AMR][1000 genomes]
rs6862778	1.00[EUR][1000 genomes]
rs6867893	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6879038	1.00[AMR][1000 genomes]
rs6879616	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6883115	0.83[AMR][1000 genomes]
rs73778679	0.83[AMR][1000 genomes]
rs73778680	0.83[AMR][1000 genomes]
rs73778683	1.00[AMR][1000 genomes]
rs73778685	1.00[AMR][1000 genomes]
rs73778688	1.00[AMR][1000 genomes]
rs73778696	1.00[AMR][1000 genomes]
rs73778698	0.83[AMR][1000 genomes]
rs73781305	0.83[AMR][1000 genomes]
rs73781306	1.00[AMR][1000 genomes]
rs73781307	0.83[AMR][1000 genomes]
rs73781308	1.00[AMR][1000 genomes]
rs73781309	1.00[AMR][1000 genomes]
rs73781312	0.83[AMR][1000 genomes]
rs73781321	1.00[AMR][1000 genomes]
rs73781322	1.00[AMR][1000 genomes]
rs73781323	1.00[AMR][1000 genomes]
rs73781324	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73781326	0.83[AMR][1000 genomes]
rs73781327	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73781330	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73781331	1.00[AMR][1000 genomes]
rs73781332	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73781333	1.00[EUR][1000 genomes]
rs73781335	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73781336	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73781339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73781340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73781341	1.00[EUR][1000 genomes]
rs73781344	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73781353	1.00[EUR][1000 genomes]
rs73781354	1.00[EUR][1000 genomes]
rs73781358	1.00[EUR][1000 genomes]
rs73781359	1.00[EUR][1000 genomes]
rs7709699	1.00[AMR][1000 genomes]
rs7713871	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7721632	0.83[AMR][1000 genomes]
rs7722719	1.00[AMR][1000 genomes]
rs7722938	1.00[AMR][1000 genomes]
rs7725340	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7726195	0.83[AMR][1000 genomes]
rs7728430	0.83[AMR][1000 genomes]
rs7737226	1.00[EUR][1000 genomes]
rs7737425	1.00[AMR][1000 genomes]
rs962681	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882683	chr5:107476501-107769095	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv882686	chr5:107564746-107769095	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv882688	chr5:107595383-107715746	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	esv2755544	chr5:107614101-107748101	Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107615000-107705600	Weak transcription	Left Ventricle	heart
2	chr5:107648000-107704800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:107654600-107709400	Weak transcription	Pancreas	Pancrea
4	chr5:107658600-107709200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr5:107663800-107709400	Weak transcription	Primary T cells from cord blood	blood
6	chr5:107667600-107709200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr5:107668600-107706800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:107669200-107708400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr5:107675000-107709200	Weak transcription	Fetal Thymus	thymus
10	chr5:107677800-107709200	Weak transcription	Ovary	ovary
11	chr5:107679200-107706800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr5:107679800-107705600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr5:107680000-107706800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr5:107680400-107707600	Weak transcription	Fetal Intestine Large	intestine
15	chr5:107682000-107703600	Weak transcription	Dnd41	blood
16	chr5:107683000-107703600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:107688000-107707600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr5:107693000-107704600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:107693000-107706800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr5:107693600-107706400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr5:107694400-107703400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:107694400-107706800	Weak transcription	GM12878-XiMat	blood
23	chr5:107695000-107702800	Weak transcription	Brain Hippocampus Middle	brain
24	chr5:107696600-107709200	Weak transcription	Fetal Lung	lung
25	chr5:107697000-107705000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr5:107697200-107715200	Weak transcription	HSMM	muscle
27	chr5:107697400-107703200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr5:107697600-107705200	Weak transcription	Brain Substantia Nigra	brain
29	chr5:107697600-107706000	Weak transcription	Stomach Mucosa	stomach
30	chr5:107697600-107708000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr5:107697800-107703200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr5:107697800-107707600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:107697800-107709200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr5:107698000-107707800	Weak transcription	Brain Anterior Caudate	brain
35	chr5:107698200-107715600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr5:107698800-107703600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr5:107699000-107712800	Weak transcription	Right Ventricle	heart
38	chr5:107699600-107703000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:107699600-107709200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr5:107699800-107703000	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr5:107699800-107704200	Strong transcription	Primary B cells from cord blood	blood
42	chr5:107700400-107702800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:107700400-107707600	Weak transcription	Esophagus	oesophagus
44	chr5:107700600-107702800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr5:107700600-107707600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:107700600-107707600	Weak transcription	NHDF-Ad	bronchial
47	chr5:107700600-107709000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:107700600-107709400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr5:107700800-107707600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:107701000-107709400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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