Variant report

Variant	rs7794808
Chromosome Location	chr7:112568902-112568903
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:112567908..112571735-chr7:112573454..112577571,5	K562	blood:
2	chr7:112568338..112570689-chr7:112577834..112580004,2	MCF-7	breast:
3	chr7:112568119..112570873-chr7:112572834..112576216,3	K562	blood:

Variant related genes	Relation type
ENSG00000164603	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10229725	0.82[CEU][hapmap]
rs10500013	0.82[CEU][hapmap]
rs12112310	0.82[CEU][hapmap]
rs28718671	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59695601	0.91[EUR][1000 genomes]
rs73195091	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73195102	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73196904	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73196909	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73196912	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73196915	0.91[EUR][1000 genomes]
rs7777041	0.82[CEU][hapmap]
rs7781785	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7798366	0.82[CEU][hapmap]
rs7800661	0.82[CEU][hapmap]

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	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2754368	chr7:112483049-112588049	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2758131	chr7:112492127-112768628	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2759556	chr7:112492127-112768628	Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112522200-112571000	Weak transcription	Thymus	Thymus
2	chr7:112530400-112576600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr7:112541400-112578800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:112549200-112569000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:112549200-112571000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr7:112549400-112574200	Weak transcription	Fetal Brain Female	brain
7	chr7:112551600-112571000	Weak transcription	HSMM	muscle
8	chr7:112551600-112575600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr7:112551600-112575800	Weak transcription	GM12878-XiMat	blood
10	chr7:112551600-112576200	Weak transcription	Ovary	ovary
11	chr7:112551600-112577400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr7:112551600-112578600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr7:112551600-112579400	Weak transcription	Spleen	Spleen
14	chr7:112553800-112578800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:112554000-112570200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:112554000-112577200	Weak transcription	Primary B cells from cord blood	blood
17	chr7:112554200-112569600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:112555400-112570200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:112555400-112570600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:112555400-112578000	Weak transcription	Adipose Nuclei	Adipose
21	chr7:112555600-112569800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:112555600-112571000	Weak transcription	Dnd41	blood
23	chr7:112555600-112572600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr7:112556000-112573600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:112556200-112575800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr7:112556600-112571000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr7:112556800-112570400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:112556800-112570800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:112556800-112571000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr7:112556800-112573000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:112556800-112576200	Weak transcription	Left Ventricle	heart
32	chr7:112556800-112577600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:112557000-112578600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr7:112562200-112572600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr7:112562800-112576400	Weak transcription	Fetal Intestine Small	intestine
36	chr7:112563200-112571000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr7:112563200-112578200	Weak transcription	HUVEC	blood vessel
38	chr7:112563600-112571000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr7:112565200-112578600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr7:112566200-112569000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:112566800-112570600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:112566800-112572600	Weak transcription	Fetal Heart	heart
43	chr7:112567000-112570200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr7:112568400-112576200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr7:112568400-112578200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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