Variant report

Variant	rs60598581
Chromosome Location	chr6:149662004-149662005
allele	A/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	SRF	chr6:149661807-149662248	ECC-1	luminal epithelium:	n/a	chr6:149662076-149662087 chr6:149662075-149662088 chr6:149662073-149662090 chr6:149662075-149662088 chr6:149662077-149662088 chr6:149662072-149662090 chr6:149662077-149662086 chr6:149662141-149662152 chr6:149662076-149662090 chr6:149662072-149662086

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:149659981..149662112-chr6:149664199..149665904,2	MCF-7	breast:

Variant related genes	Relation type
TAB2	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs17085985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17086054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34024129	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35391071	1.00[EUR][1000 genomes]
rs35507156	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55763048	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56126528	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56390023	1.00[EUR][1000 genomes]
rs56836556	1.00[EUR][1000 genomes]
rs57234155	1.00[EUR][1000 genomes]
rs57240808	1.00[EUR][1000 genomes]
rs58467138	1.00[EUR][1000 genomes]
rs59090184	0.87[AMR][1000 genomes]
rs59181586	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59582367	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60923183	1.00[EUR][1000 genomes]
rs6926168	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6926360	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6934491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73779304	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73779305	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73779307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73779311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73779312	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73779313	1.00[EUR][1000 genomes]
rs73779314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73779330	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73779333	1.00[EUR][1000 genomes]
rs73779345	1.00[EUR][1000 genomes]
rs73779346	1.00[EUR][1000 genomes]
rs73779354	1.00[EUR][1000 genomes]
rs73779366	1.00[EUR][1000 genomes]
rs73779373	1.00[EUR][1000 genomes]
rs73779376	1.00[EUR][1000 genomes]
rs7740647	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7760102	1.00[EUR][1000 genomes]
rs7761612	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs935386	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024106	chr6:149622349-149745053	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv522875	chr6:149643709-149762537	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv530444	chr6:149654540-149848997	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr6:149641200-149681400	Weak transcription	Fetal Stomach	stomach
2	chr6:149645000-149666400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:149649400-149689400	Weak transcription	Fetal Brain Female	brain
4	chr6:149654000-149674200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:149654600-149668600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:149656200-149670800	Weak transcription	Esophagus	oesophagus
7	chr6:149656800-149681400	Weak transcription	Psoas Muscle	Psoas
8	chr6:149656800-149682400	Weak transcription	Lung	lung
9	chr6:149656800-149694400	Weak transcription	Placenta	Placenta
10	chr6:149657400-149663600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:149657400-149665800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:149657600-149663200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr6:149657800-149673800	Weak transcription	Thymus	Thymus
14	chr6:149657800-149683800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:149657800-149691200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr6:149658000-149662800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr6:149658000-149663200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr6:149658000-149663200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr6:149658000-149663400	Weak transcription	Small Intestine	intestine
20	chr6:149658000-149663800	Weak transcription	Aorta	Aorta
21	chr6:149658000-149663800	Weak transcription	Right Ventricle	heart
22	chr6:149658000-149673800	Weak transcription	Fetal Intestine Large	intestine
23	chr6:149658000-149673800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr6:149658000-149674000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr6:149658000-149679000	Weak transcription	K562	blood
26	chr6:149658000-149680800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:149658000-149681400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:149658000-149695400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:149658200-149662400	Weak transcription	HSMMtube	muscle
30	chr6:149658200-149664800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:149658200-149691000	Weak transcription	NHDF-Ad	bronchial
32	chr6:149658600-149664400	Weak transcription	Right Atrium	heart
33	chr6:149658800-149663600	Weak transcription	NHEK	skin
34	chr6:149658800-149666400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:149658800-149674000	Weak transcription	HepG2	liver
36	chr6:149658800-149692400	Weak transcription	Fetal Kidney	kidney
37	chr6:149659000-149662600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr6:149659000-149664800	Weak transcription	HUVEC	blood vessel
39	chr6:149659200-149663400	Weak transcription	Dnd41	blood
40	chr6:149659200-149663600	Weak transcription	HMEC	breast
41	chr6:149659200-149685200	Weak transcription	Ovary	ovary
42	chr6:149659200-149691400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr6:149659400-149662400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr6:149659400-149662600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr6:149659400-149662600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr6:149659400-149662600	Weak transcription	Brain Anterior Caudate	brain
47	chr6:149659400-149662600	Weak transcription	Fetal Lung	lung
48	chr6:149659400-149662800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr6:149659400-149662800	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr6:149659400-149663800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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