Variant report

Variant	rs7519683
Chromosome Location	chr1:210581083-210581084
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	chr1:210544698..210555948-chr1:210566953..210584306,65	MCF-7	breast:
2	chr1:210545333..210549114-chr1:210576030..210582834,11	K562	blood:
3	chr1:210580289..210581488-chr1:211307440..211308125,4	K562	blood:
4	chr1:210580317..210581126-chr1:211307369..211308490,3	MCF-7	breast:
5	chr1:210573314..210577563-chr1:210578533..210582759,4	K562	blood:
6	chr1:210580467..210581234-chr1:211308480..211309338,4	K562	blood:
7	chr1:210572425..210575594-chr1:210579116..210581300,3	K562	blood:
8	chr1:210580352..210581221-chr1:211308252..211309278,4	MCF-7	breast:
9	chr1:210580604..210582108-chr1:210584910..210587345,2	MCF-7	breast:
10	chr1:210546219..210548484-chr1:210580147..210582038,2	K562	blood:
11	chr1:210544032..210549009-chr1:210579509..210584636,8	MCF-7	breast:
12	chr1:210580344..210581229-chr1:211307198..211308039,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143473	Chromatin interaction
ENSG00000200972	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12067861	0.84[ASN][1000 genomes]
rs17708168	0.84[ASN][1000 genomes]
rs17759116	0.84[ASN][1000 genomes]
rs1997783	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73071977	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73071983	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519881	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7528344	0.98[EUR][1000 genomes];0.89[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	esv2756883	chr1:210579523-210620779	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	esv2758995	chr1:210579523-210620779	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210529600-210586000	Weak transcription	Pancreas	Pancrea
2	chr1:210551400-210586000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:210559000-210584400	Weak transcription	Fetal Stomach	stomach
4	chr1:210566800-210586200	Weak transcription	Lung	lung
5	chr1:210567400-210617200	Weak transcription	Left Ventricle	heart
6	chr1:210570200-210594000	Weak transcription	Fetal Lung	lung
7	chr1:210571200-210586200	Weak transcription	Colonic Mucosa	Colon
8	chr1:210571200-210592400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:210571400-210591400	Weak transcription	Ovary	ovary
10	chr1:210571400-210641000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:210573600-210592400	Weak transcription	Fetal Intestine Small	intestine
12	chr1:210573800-210592200	Weak transcription	Primary T cells from cord blood	blood
13	chr1:210573800-210594400	Weak transcription	Spleen	Spleen
14	chr1:210574000-210586600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr1:210574400-210587400	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:210574400-210592200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:210574400-210594400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:210574400-210595200	Weak transcription	Right Ventricle	heart
19	chr1:210575800-210584600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:210577400-210591600	Weak transcription	Thymus	Thymus
21	chr1:210578800-210581400	Enhancers	HSMMtube	muscle
22	chr1:210578800-210584400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:210579400-210581200	Enhancers	HSMM	muscle
24	chr1:210580000-210581200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr1:210580000-210581200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr1:210580400-210581200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr1:210580400-210581200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr1:210580800-210581200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr1:210580800-210581200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr1:210580800-210581200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr1:210580800-210581200	Enhancers	Brain Angular Gyrus	brain
32	chr1:210580800-210581200	Enhancers	HepG2	liver
33	chr1:210581000-210581200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:210581000-210581200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:210581000-210581400	Enhancers	H9 Cell Line	embryonic stem cell
36	chr1:210581000-210581400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:210581000-210581400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:210581000-210584800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:210581000-210585000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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