Variant report

Variant	rs59695601
Chromosome Location	chr7:112577513-112577514
allele	C/G
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	chr7:112442436..112445188-chr7:112575668..112578638,2	K562	blood:
3	chr7:112574893..112577839-chr7:112578042..112580398,5	K562	blood:

Variant related genes	Relation type
ENSG00000164603	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10229725	0.87[EUR][1000 genomes]
rs12112310	0.87[EUR][1000 genomes]
rs28718671	0.95[EUR][1000 genomes]
rs66988577	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73195084	0.81[EUR][1000 genomes]
rs73195091	0.90[EUR][1000 genomes]
rs73195102	1.00[EUR][1000 genomes]
rs73196904	1.00[EUR][1000 genomes]
rs73196909	1.00[EUR][1000 genomes]
rs73196912	1.00[EUR][1000 genomes]
rs73196915	1.00[EUR][1000 genomes]
rs73196918	0.87[EUR][1000 genomes]
rs7777041	0.87[EUR][1000 genomes]
rs7781785	1.00[EUR][1000 genomes]
rs7794808	0.91[EUR][1000 genomes]
rs7798366	0.87[EUR][1000 genomes]
rs7800661	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	esv3692941	chr7:112571420-112614215	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112541400-112578800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:112551600-112578600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr7:112551600-112579400	Weak transcription	Spleen	Spleen
4	chr7:112553800-112578800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:112555400-112578000	Weak transcription	Adipose Nuclei	Adipose
6	chr7:112556800-112577600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:112557000-112578600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr7:112563200-112578200	Weak transcription	HUVEC	blood vessel
9	chr7:112565200-112578600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:112568400-112578200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr7:112570400-112578400	Weak transcription	NH-A	brain
12	chr7:112571200-112577600	Weak transcription	NHLF	lung
13	chr7:112571200-112577800	Weak transcription	Thymus	Thymus
14	chr7:112571200-112577800	Weak transcription	K562	blood
15	chr7:112571200-112578200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:112571200-112578200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr7:112571400-112578800	Weak transcription	Psoas Muscle	Psoas
18	chr7:112571600-112578200	Weak transcription	Fetal Muscle Leg	muscle
19	chr7:112571600-112578200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr7:112571600-112578800	Weak transcription	Small Intestine	intestine
21	chr7:112571800-112577600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:112571800-112577600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr7:112571800-112578200	Weak transcription	Brain Substantia Nigra	brain
24	chr7:112572000-112577600	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr7:112572200-112578400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:112573200-112577600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:112573200-112578200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr7:112573200-112578200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr7:112573200-112578800	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr7:112573200-112578800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr7:112573400-112578200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:112573800-112577600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr7:112573800-112577600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr7:112573800-112578400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr7:112574000-112578200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr7:112574000-112578200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr7:112574600-112577800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr7:112575200-112578200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr7:112575400-112577600	Weak transcription	HSMM	muscle
40	chr7:112575600-112578600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr7:112575600-112579200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr7:112575800-112578000	Active TSS	GM12878-XiMat	blood
43	chr7:112575800-112578800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr7:112576000-112578600	Weak transcription	Placenta	Placenta
45	chr7:112576200-112577600	Enhancers	Aorta	Aorta
46	chr7:112576200-112577600	Flanking Active TSS	Fetal Brain Female	brain
47	chr7:112576200-112577600	Genic enhancers	Osteobl	bone
48	chr7:112576200-112577800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr7:112576200-112578200	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr7:112576200-112578600	Enhancers	Primary T helper cells PMA-I stimulated	--

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