Variant report

Variant	rs6680134
Chromosome Location	chr1:224832394-224832395
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:224832200..224833011-chr1:224921824..224922821,2	MCF-7	breast:
2	chr1:224831973..224833573-chr1:225038934..225041311,18	MCF-7	breast:
3	chr1:224832157..224833040-chr1:224961843..224962368,3	MCF-7	breast:
4	chr1:224702056..224704191-chr1:224831412..224833882,2	MCF-7	breast:
5	chr1:224831768..224834375-chr1:225108469..225110982,2	K562	blood:
6	chr1:224831986..224832789-chr1:225109802..225110521,2	MCF-7	breast:
7	chr1:224701081..224702054-chr1:224831942..224832464,4	K562	blood:
8	chr1:224826905..224830184-chr1:224832363..224835221,3	K562	blood:
9	chr1:224701040..224701627-chr1:224831526..224832528,3	MCF-7	breast:
10	chr1:224832017..224832901-chr1:225040400..225040962,2	MCF-7	breast:
11	chr1:224831953..224832918-chr1:225040401..225041278,3	K562	blood:
12	chr1:224832360..224832914-chr1:225110011..225110793,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143786	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs56331910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56803202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56879180	1.00[AMR][1000 genomes]
rs57257659	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59093574	1.00[AMR][1000 genomes]
rs60017318	1.00[AMR][1000 genomes]
rs60031851	1.00[AMR][1000 genomes]
rs60681998	0.86[AFR][1000 genomes]
rs61674651	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74146204	0.84[AFR][1000 genomes]
rs74146215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74146216	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74146218	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74146220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74146221	0.89[AFR][1000 genomes]
rs74146224	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74146397	0.82[AFR][1000 genomes]
rs74149624	0.91[AFR][1000 genomes]
rs74149626	0.86[AFR][1000 genomes]
rs873832	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224820400-224840000	Weak transcription	Right Atrium	heart
2	chr1:224826000-224839200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:224826400-224837800	Weak transcription	NHLF	lung
4	chr1:224827000-224839800	Weak transcription	HSMM	muscle
5	chr1:224828600-224834000	Weak transcription	Pancreas	Pancrea
6	chr1:224828600-224837800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:224828800-224832400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:224828800-224853400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:224829000-224832800	Weak transcription	Fetal Brain Male	brain
10	chr1:224829400-224832400	Weak transcription	NHDF-Ad	bronchial
11	chr1:224829400-224832600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:224829800-224833200	Weak transcription	HSMMtube	muscle
13	chr1:224829800-224835200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:224830800-224835200	Weak transcription	NH-A	brain
15	chr1:224831400-224832600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:224831600-224833800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:224831600-224835600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:224831800-224832600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:224832200-224832600	Enhancers	Dnd41	blood
20	chr1:224832200-224832800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:224832200-224832800	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr1:224832200-224833200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:224832200-224839800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:224832200-224884400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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