Variant report

Variant	rs72648954
Chromosome Location	chr2:179593449-179593450
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:179591856..179594132-chr2:179597317..179599649,2	K562	blood:
2	chr2:179581134..179585940-chr2:179590445..179595244,6	K562	blood:
3	chr2:179591482..179593749-chr2:179602547..179604430,2	K562	blood:

Variant related genes	Relation type
ENSG00000237298	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2562835	0.80[AFR][1000 genomes]
rs2562837	0.80[AFR][1000 genomes]
rs2562841	0.80[AFR][1000 genomes]
rs2742332	0.80[AFR][1000 genomes]
rs2742334	0.80[AFR][1000 genomes]
rs2742335	0.80[AFR][1000 genomes]
rs2742340	0.80[AFR][1000 genomes]
rs72648962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72648986	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv834470	chr2:179555152-179728726	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv934108	chr2:179556852-179729925	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179483200-179655400	Weak transcription	Adipose Nuclei	Adipose
2	chr2:179493000-179620800	Weak transcription	HSMM	muscle
3	chr2:179528200-179601200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:179529600-179600600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:179533600-179669200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr2:179543400-179596800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:179565400-179600800	Weak transcription	Thymus	Thymus
8	chr2:179568400-179594000	Strong transcription	Left Ventricle	heart
9	chr2:179568400-179603400	Strong transcription	HSMMtube	muscle
10	chr2:179568800-179596200	Strong transcription	Fetal Muscle Leg	muscle
11	chr2:179575200-179601000	Strong transcription	Primary T cells from cord blood	blood
12	chr2:179577800-179640800	Weak transcription	Fetal Intestine Large	intestine
13	chr2:179580200-179598000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr2:179580400-179600200	Weak transcription	Pancreas	Pancrea
15	chr2:179581200-179600800	Genic enhancers	Fetal Heart	heart
16	chr2:179584200-179616200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr2:179585200-179615800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr2:179587000-179599200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:179588200-179622800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr2:179590800-179594000	Weak transcription	Right Ventricle	heart
21	chr2:179590800-179594200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:179590800-179640400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr2:179591000-179597200	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:179591600-179596000	Strong transcription	Psoas Muscle	Psoas
25	chr2:179591800-179608400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
26	chr2:179592200-179600600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
27	chr2:179592400-179597600	Weak transcription	Right Atrium	heart
28	chr2:179592600-179594000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr2:179593400-179593800	Strong transcription	Primary B cells from cord blood	blood

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