Variant report

Variant	rs1229676
Chromosome Location	chr7:26457271-26457272
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26239246..26240956-chr7:26456820..26458643,2	MCF-7	breast:
2	chr7:26443364..26446352-chr7:26455253..26457361,2	K562	blood:
3	chr7:26455420..26458332-chr7:26528292..26530965,2	MCF-7	breast:
4	chr7:26436548..26440946-chr7:26456240..26460952,5	K562	blood:
5	chr7:26456740..26460595-chr7:26476772..26480334,4	K562	blood:
6	chr7:26448654..26450705-chr7:26456619..26460704,3	K562	blood:
7	chr7:26457125..26458873-chr7:26492801..26494434,2	K562	blood:
8	chr7:26436792..26442283-chr7:26453142..26459992,7	K562	blood:
9	chr7:26455567..26459057-chr7:26461303..26464191,3	MCF-7	breast:
10	chr7:26456630..26459638-chr7:26463476..26466366,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000122565	Chromatin interaction
ENSG00000122566	Chromatin interaction
ENSG00000214870	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1013687	0.81[AFR][1000 genomes]
rs1229653	0.81[AFR][1000 genomes]
rs1229655	0.81[AFR][1000 genomes]
rs1229661	0.81[AFR][1000 genomes]
rs1229672	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1229674	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1229675	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1229680	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1229682	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1229683	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1229685	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1229686	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1229687	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1229688	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1229690	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1236949	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1318640	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2698728	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][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	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26440800-26460200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:26446000-26471200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:26446800-26459800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:26452600-26458000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr7:26453400-26457800	Weak transcription	Fetal Lung	lung
6	chr7:26453400-26468400	Weak transcription	Pancreas	Pancrea
7	chr7:26453600-26462600	Weak transcription	Lung	lung
8	chr7:26455800-26457800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:26455800-26459800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:26456000-26457400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:26456000-26459800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:26456000-26460200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:26456000-26460200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:26456000-26460400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:26456000-26460400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr7:26456000-26460400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr7:26457000-26458200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:26457000-26458200	Enhancers	Hela-S3	cervix
19	chr7:26457000-26458400	Flanking Active TSS	K562	blood
20	chr7:26457200-26458200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr7:26457200-26458200	Flanking Active TSS	HUVEC	blood vessel

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