Variant report

Variant	rs6749895
Chromosome Location	chr2:172875442-172875443
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172875314..172877741-chr2:172963379..172965447,2	MCF-7	breast:
2	chr2:172874695..172877681-chr2:172884146..172886439,2	K562	blood:
3	chr2:172862481..172869340-chr2:172872333..172878575,9	MCF-7	breast:
4	chr2:172872334..172876033-chr2:172959738..172961363,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115840	Chromatin interaction
ENSG00000172878	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1008152	0.86[AMR][1000 genomes]
rs17428174	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17500114	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55863868	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56218609	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62183804	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62183808	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62183809	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62183852	0.86[AMR][1000 genomes]
rs6704590	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737876	0.86[AMR][1000 genomes]
rs6761111	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72892835	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72892859	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1012188	chr2:172855923-172928891	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv3031	chr2:172867462-172884232	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172865200-172886600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:172865400-172877200	Weak transcription	Pancreas	Pancrea
3	chr2:172865400-172878000	Weak transcription	Gastric	stomach
4	chr2:172865600-172876600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr2:172865600-172877200	Weak transcription	Psoas Muscle	Psoas
6	chr2:172865600-172878000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:172865600-172897400	Weak transcription	Primary T cells from cord blood	blood
8	chr2:172865800-172876600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr2:172865800-172877200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:172865800-172877600	Weak transcription	Fetal Kidney	kidney
11	chr2:172865800-172878000	Weak transcription	Primary B cells from cord blood	blood
12	chr2:172865800-172886400	Weak transcription	Fetal Intestine Small	intestine
13	chr2:172865800-172886600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:172866000-172876400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:172866000-172877200	Weak transcription	Ovary	ovary
16	chr2:172866000-172877600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:172866000-172877800	Weak transcription	HSMM	muscle
18	chr2:172866000-172878000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:172866000-172886800	Weak transcription	HSMMtube	muscle
20	chr2:172866200-172876400	Weak transcription	Dnd41	blood
21	chr2:172866200-172877000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:172866400-172875800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:172866800-172882600	Weak transcription	K562	blood
24	chr2:172869600-172877200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:172873800-172877200	Weak transcription	HepG2	liver
26	chr2:172874000-172877800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:172874200-172878000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:172874200-172886400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:172875000-172878000	Weak transcription	HMEC	breast
30	chr2:172875200-172878800	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr2:172875400-172876400	Enhancers	Monocytes-CD14+_RO01746	blood

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