Variant report

Variant	rs7606485
Chromosome Location	chr2:179513923-179513924
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179314046..179316331-chr2:179513607..179515396,2	K562	blood:

Variant related genes	Relation type
ENSG00000180228	Chromatin interaction
ENSG00000204311	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10176708	0.84[EUR][1000 genomes]
rs10179811	0.84[EUR][1000 genomes]
rs10183237	0.84[EUR][1000 genomes]
rs10183361	0.84[EUR][1000 genomes]
rs10203085	0.84[EUR][1000 genomes]
rs10204913	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10221760	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11888217	0.84[EUR][1000 genomes]
rs13398235	0.84[EUR][1000 genomes]
rs13398590	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13417645	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16866416	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16866425	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16866473	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1864243	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2366752	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2366753	0.85[EUR][1000 genomes]
rs28378468	0.89[EUR][1000 genomes]
rs28715837	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4893852	0.84[EUR][1000 genomes]
rs4894034	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7590037	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv834468	chr2:179351116-179533625	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2757841	chr2:179409072-179608242	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2759103	chr2:179409072-179608242	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179438400-179518200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:179479600-179519400	Weak transcription	Fetal Thymus	thymus
3	chr2:179481400-179520000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr2:179483200-179655400	Weak transcription	Adipose Nuclei	Adipose
5	chr2:179493000-179620800	Weak transcription	HSMM	muscle
6	chr2:179496000-179521600	Weak transcription	Fetal Intestine Large	intestine
7	chr2:179497800-179516400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:179497800-179518400	Weak transcription	Pancreas	Pancrea
9	chr2:179497800-179530400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:179498000-179521000	Weak transcription	Right Ventricle	heart
11	chr2:179500800-179514400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr2:179501000-179541800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr2:179501400-179516000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:179501600-179516000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr2:179504600-179516000	Weak transcription	Psoas Muscle	Psoas
16	chr2:179505000-179514200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:179508200-179519000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr2:179509000-179518200	Strong transcription	HSMMtube	muscle
19	chr2:179509200-179518000	Strong transcription	Primary T cells from cord blood	blood
20	chr2:179510600-179514400	Strong transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:179511800-179518400	Strong transcription	Left Ventricle	heart
22	chr2:179512000-179514400	Strong transcription	Fetal Muscle Leg	muscle
23	chr2:179513200-179514400	Enhancers	Fetal Heart	heart
24	chr2:179513600-179516200	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:179513600-179516800	Strong transcription	Primary B cells from cord blood	blood
26	chr2:179513600-179518000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr2:179513800-179515200	Strong transcription	Primary T helper cells PMA-I stimulated	--

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