Variant report

Variant	rs60923183
Chromosome Location	chr6:149642607-149642608
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:149564226..149566619-chr6:149641623..149643146,2	K562	blood:

Variant related genes	Relation type
ENSG00000225924	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs17085985	1.00[EUR][1000 genomes]
rs17086054	1.00[EUR][1000 genomes]
rs34024129	1.00[EUR][1000 genomes]
rs35391071	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35507156	1.00[EUR][1000 genomes]
rs55763048	1.00[EUR][1000 genomes]
rs56126528	1.00[EUR][1000 genomes]
rs56390023	1.00[EUR][1000 genomes]
rs56836556	1.00[EUR][1000 genomes]
rs57234155	1.00[EUR][1000 genomes]
rs57240808	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58467138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59181586	1.00[EUR][1000 genomes]
rs59582367	1.00[EUR][1000 genomes]
rs60598581	1.00[EUR][1000 genomes]
rs6926168	1.00[EUR][1000 genomes]
rs6926360	1.00[EUR][1000 genomes]
rs6934491	1.00[EUR][1000 genomes]
rs73779304	1.00[EUR][1000 genomes]
rs73779305	1.00[EUR][1000 genomes]
rs73779307	1.00[EUR][1000 genomes]
rs73779311	1.00[EUR][1000 genomes]
rs73779312	1.00[EUR][1000 genomes]
rs73779313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73779314	1.00[EUR][1000 genomes]
rs73779330	1.00[EUR][1000 genomes]
rs73779333	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73779345	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];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	1.00[EUR][1000 genomes]
rs7760102	1.00[EUR][1000 genomes]
rs7761612	1.00[EUR][1000 genomes]
rs935386	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	nsv1024776	chr6:149398652-149654593	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1015360	chr6:149609804-149649982	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149639800-149643400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:149640000-149649400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:149640200-149645600	Weak transcription	Left Ventricle	heart
4	chr6:149640200-149655400	Weak transcription	Esophagus	oesophagus
5	chr6:149640200-149655600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:149640400-149642800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr6:149640400-149645600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:149640400-149648600	Weak transcription	Right Ventricle	heart
9	chr6:149640600-149645800	Weak transcription	Fetal Muscle Leg	muscle
10	chr6:149640600-149648600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr6:149640800-149643400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:149640800-149645400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:149640800-149645600	Weak transcription	Fetal Intestine Small	intestine
14	chr6:149640800-149649000	Weak transcription	Thymus	Thymus
15	chr6:149640800-149652800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr6:149640800-149653200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:149641000-149642800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr6:149641000-149642800	Enhancers	Fetal Lung	lung
19	chr6:149641000-149643000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:149641000-149643000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr6:149641000-149643000	Enhancers	Colon Smooth Muscle	Colon
22	chr6:149641000-149643000	Enhancers	HepG2	liver
23	chr6:149641000-149643200	Enhancers	Fetal Heart	heart
24	chr6:149641000-149648400	Weak transcription	Fetal Intestine Large	intestine
25	chr6:149641200-149642800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:149641200-149642800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr6:149641200-149643000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr6:149641200-149643200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr6:149641200-149643400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr6:149641200-149644000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr6:149641200-149644200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr6:149641200-149647400	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr6:149641200-149648400	Weak transcription	Fetal Kidney	kidney
34	chr6:149641200-149649200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:149641200-149657400	Weak transcription	Aorta	Aorta
36	chr6:149641200-149681400	Weak transcription	Fetal Stomach	stomach
37	chr6:149641400-149642800	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr6:149641400-149643200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr6:149641400-149645600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr6:149641400-149655600	Weak transcription	Placenta	Placenta
41	chr6:149641600-149642800	Enhancers	Osteobl	bone
42	chr6:149641600-149643000	Enhancers	Liver	Liver
43	chr6:149641600-149643800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr6:149641600-149644000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:149641600-149644600	Enhancers	Brain Hippocampus Middle	brain
46	chr6:149641600-149644800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr6:149641600-149645200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr6:149641600-149645600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr6:149641600-149645600	Weak transcription	Stomach Mucosa	stomach
50	chr6:149641600-149646800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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