Variant report

Variant	rs6673017
Chromosome Location	chr1:184840083-184840084
allele	C/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	POLR2A	chr1:184839141-184840144	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184838337..184841117-chr1:184940485..184942546,2	K562	blood:

Variant related genes	Relation type
FAM129A	TF binding region

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16823606	1.00[EUR][1000 genomes]
rs16823626	1.00[EUR][1000 genomes]
rs16823651	1.00[EUR][1000 genomes]
rs2840217	1.00[EUR][1000 genomes]
rs57144153	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57440078	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60903884	1.00[EUR][1000 genomes]
rs6683230	1.00[EUR][1000 genomes]
rs6690708	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73050643	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7520163	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv832048	chr1:184660146-184858802	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv3843	chr1:184798670-184858114	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv872585	chr1:184813885-184986725	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv872586	chr1:184814555-184948689	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	nsv872587	chr1:184820832-184986725	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats 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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184816800-184874200	Weak transcription	Esophagus	oesophagus
2	chr1:184821600-184842400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:184831400-184874200	Weak transcription	Lung	lung
4	chr1:184831600-184851600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr1:184832400-184847200	Weak transcription	Pancreas	Pancrea
6	chr1:184833000-184849400	Weak transcription	Fetal Heart	heart
7	chr1:184836800-184847200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:184837000-184849800	Weak transcription	Right Ventricle	heart
9	chr1:184837200-184846800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:184837200-184849600	Weak transcription	Aorta	Aorta
11	chr1:184837200-184851000	Weak transcription	NHDF-Ad	bronchial
12	chr1:184837200-184851600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:184837200-184858400	Weak transcription	K562	blood
14	chr1:184837200-184859800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:184837200-184869000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:184837400-184847400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:184837400-184849200	Weak transcription	Fetal Muscle Leg	muscle
18	chr1:184837600-184846600	Weak transcription	Colon Smooth Muscle	Colon
19	chr1:184837800-184844800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr1:184838000-184840200	Enhancers	GM12878-XiMat	blood
21	chr1:184838000-184841800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:184838000-184842200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr1:184838000-184844200	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr1:184838000-184859200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr1:184838200-184840600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr1:184838200-184841800	Weak transcription	Psoas Muscle	Psoas
27	chr1:184838400-184842000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:184839000-184849000	Weak transcription	Left Ventricle	heart
29	chr1:184839400-184840600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:184839800-184842600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:184839800-184850000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr1:184839800-184852600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr1:184839800-184858600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:184840000-184849200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:184840000-184858200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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